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Sample records for discordant monozygotic twins

  1. Monozygotic twins with trisomy 18: a report of discordant phenotype.

    PubMed Central

    Schlessel, J S; Brown, W T; Lysikiewicz, A; Schiff, R; Zaslav, A L

    1990-01-01

    The predicted incidence of liveborn monozygotic trisomy 18 twins is one per million births. The first case of liveborn monozygotic trisomy 18 twins was reported in 1989 and we report a second case in which striking phenotypic discordance existed. The probability of monozygotic trisomy 18 twinning and the mechanisms for phenotypic discordance in trisomic twins is discussed. Images PMID:2246775

  2. Methylomic analysis of monozygotic twins discordant for childhood psychotic symptoms

    PubMed Central

    Fisher, Helen L; Murphy, Therese M; Arseneault, Louise; Caspi, Avshalom; Moffitt, Terrie E; Viana, Joana; Hannon, Eilis; Pidsley, Ruth; Burrage, Joe; Dempster, Emma L; Wong, Chloe C Y; Pariante, Carmine M; Mill, Jonathan

    2015-01-01

    Childhood psychotic symptoms are associated with increased rates of schizophrenia, other psychiatric disorders, and suicide attempts in adulthood; thus, elucidating early risk indicators is crucial to target prevention efforts. There is considerable discordance for psychotic symptoms between monozygotic twins, indicating that child-specific non-genetic factors must be involved. Epigenetic processes may constitute one of these factors and have not yet been investigated in relation to childhood psychotic symptoms. Therefore, this study explored whether differences in DNA methylation at age 10 were associated with monozygotic twin discordance for psychotic symptoms at age 12. The Environmental Risk (E-Risk) Longitudinal Twin Study cohort of 2,232 children (1,116 twin pairs) was assessed for age-12 psychotic symptoms and 24 monozygotic twin pairs discordant for symptoms were identified for methylomic comparison. Children provided buccal samples at ages 5 and 10. DNA was bisulfite modified and DNA methylation was quantified using the Infinium HumanMethylation450 array. Differentially methylated positions (DMPs) associated with psychotic symptoms were subsequently tested in post-mortem prefrontal cortex tissue from adult schizophrenia patients and age-matched controls. Site-specific DNA methylation differences were observed at age 10 between monozygotic twins discordant for age-12 psychotic symptoms. Similar DMPs were not found at age 5. The top-ranked psychosis-associated DMP (cg23933044), located in the promoter of the C5ORF42 gene, was also hypomethylated in post-mortem prefrontal cortex brain tissue from schizophrenia patients compared to unaffected controls. These data tentatively suggest that epigenetic variation in peripheral tissue is associated with childhood psychotic symptoms and may indicate susceptibility to schizophrenia and other mental health problems. PMID:26479702

  3. Monozygotic twin sisters discordant for familial hemiplegic migraine

    PubMed Central

    2013-01-01

    Background The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). Case presentations We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related genes. The monozygosity of the twins was verified. Eleven individuals had a history of migraine or paroxysmal neurological symptoms, including four patients with motor aura. No mutations were detected in the CACNA1A, ATP1A2, SCN1A, PRRT2 or NOTCH3 genes. The monozygotic twin sisters, aged 52, were discordant for age of onset, motor aura and neuropsychological aura (forced thinking). Overall, the family members presented a wide range of phenotypical features. Conclusions Familial hemiplegic migraine is a monogenic disorder that is distinct from migraine with typical aura. However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by an unlikely combination of polygenic traits and non-genetic factors. In these kindreds, we propose that hemiplegic aura is only a severe and complex form of typical aura. PMID:24041236

  4. Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.

    PubMed

    Zhang, Rong; Thiele, Holger; Bartmann, Peter; Hilger, Alina C; Berg, Christoph; Herberg, Ulrike; Klingmüller, Dietrich; Nürnberg, Peter; Ludwig, Michael; Reutter, Heiko

    2016-02-01

    By definition, monozygotic (MZ) twins carry an identical set of genetic information. The observation of early post-twinning mutational events was shown to cause phenotypic discordance among MZ twin pairs. These mutational events comprise genomic alterations at different scales, ranging from single nucleotide changes to larger copy-number variations (CNVs) of varying sizes, as well as epigenetic changes. Here, we performed whole-exome sequencing (WES) in nine discordant MZ twins to identify somatic mutational events in the affected twin that might exert a dominant negative effect. Five of these MZ twin pairs were discordant for congenital heart defects (CHD), two for endocrine disorders, one for omphalocele, and one for congenital diaphragmatic hernia (CDH). Analysis of WES data from all nine MZ twin pairs using the de novo probability tool DeNovoGear detected only one apparent de novo variation in TMPRSS13 in one of the CHD-affected twins. Analysis of WES data from all nine MZ twin pairs by using standard filter criteria without the de novo probability tool DeNovoGear revealed a total of 6,657 variations in which both the twin pairs differed. After filtering for variations only present in the affected twins and absent in in-house controls, 722 variations remained. Visual inspection for read quality decreased this number to 12, present only in the affected twin. However, Sanger sequencing of the overall 13 variations failed to confirm the variation in the affected twin. These results suggest that somatic mutational events in coding regions do not seem to play a major role in the phenotypic expression of MZ discordant twin pairs. PMID:26681452

  5. Genetic and epigenetic analysis of monozygotic twins discordant for testicular cancer.

    PubMed

    Kratz, Christian P; Edelman, Daniel C; Wang, Yonghong; Meltzer, Paul S; Greene, Mark H

    2014-01-01

    Despite the notion that monozygotic (identical) twins share 100% identical genetic information, genetic differences among monozygotic twin pairs do occur and can be explained by mechanisms occurring during post-zygotic events. Despite such twins being fundamentally "identical", these post-zygotic genetic changes may give rise to phenotypic differences and genetic diseases. Consequently, studies of monozygotic twin pairs discordant for specific genetic diseases represent an important tool for the identification of disease genes. We used array comparative genomic hybridization (aCGH) and methylation arrays to search for genetic and epigenetic differences in blood drawn from four monozygotic twin pairs discordant for testicular germ cell tumors. No consistent differences were identified. A larger twin study would be required to achieve confident discovery of very subtle differences between monozygotic twins discordant for testicular germ cell tumors. PMID:25379132

  6. Two monozygotic (identical) twin pairs discordant for gender identity.

    PubMed

    Green, R; Stoller, R J

    1971-12-01

    Two pairs of monozygotic twins discordant for gender identity are described. The first set are 8-year-old males, one of whom enjoys doll play, cross-dressing, and taking the role of a female in fantasy games. His brother shows no feminine behavior, enjoys sports, and is more masculine in gestures and speech. The second set are 24-year-old females, one of whom wants to undergo sex-change surgery to male status. Her cotwin is a feminine woman desirous of marrying and bearing children. Differential childhood experiences are described for the cotwins. These highlight environmental influences, which may contribute to variances in masculinity and femininity, when genetic influences are held relatively constant. PMID:24179079

  7. Epigenetic differences in monozygotic twins discordant for major depressive disorder.

    PubMed

    Malki, K; Koritskaya, E; Harris, F; Bryson, K; Herbster, M; Tosto, M G

    2016-01-01

    Although monozygotic (MZ) twins share the majority of their genetic makeup, they can be phenotypically discordant on several traits and diseases. DNA methylation is an epigenetic mechanism that can be influenced by genetic, environmental and stochastic events and may have an important impact on individual variability. In this study we explored epigenetic differences in peripheral blood samples in three MZ twin studies on major depressive disorder (MDD). Epigenetic data for twin pairs were collected as part of a previous study using 8.1-K-CpG microarrays tagging DNA modification in white blood cells from MZ twins discordant for MDD. Data originated from three geographical regions: UK, Australia and the Netherlands. Ninety-seven MZ pairs (194 individuals) discordant for MDD were included. Different methods to address non independently-and-identically distributed (non-i.i.d.) data were evaluated. Machine-learning methods with feature selection centered on support vector machine and random forest were used to build a classifier to predict cases and controls based on epivariations. The most informative variants were mapped to genes and carried forward for network analysis. A mixture approach using principal component analysis (PCA) and Bayes methods allowed to combine the three studies and to leverage the increased predictive power provided by the larger sample. A machine-learning algorithm with feature reduction classified affected from non-affected twins above chance levels in an independent training-testing design. Network analysis revealed gene networks centered on the PPAR-γ (NR1C3) and C-MYC gene hubs interacting through the AP-1 (c-Jun) transcription factor. PPAR-γ (NR1C3) is a drug target for pioglitazone, which has been shown to reduce depression symptoms in patients with MDD. Using a data-driven approach we were able to overcome challenges of non-i.i.d. data when combining epigenetic studies from MZ twins discordant for MDD. Individually, the studies yielded

  8. Epigenetic differences in monozygotic twins discordant for major depressive disorder

    PubMed Central

    Malki, K; Koritskaya, E; Harris, F; Bryson, K; Herbster, M; Tosto, M G

    2016-01-01

    Although monozygotic (MZ) twins share the majority of their genetic makeup, they can be phenotypically discordant on several traits and diseases. DNA methylation is an epigenetic mechanism that can be influenced by genetic, environmental and stochastic events and may have an important impact on individual variability. In this study we explored epigenetic differences in peripheral blood samples in three MZ twin studies on major depressive disorder (MDD). Epigenetic data for twin pairs were collected as part of a previous study using 8.1-K-CpG microarrays tagging DNA modification in white blood cells from MZ twins discordant for MDD. Data originated from three geographical regions: UK, Australia and the Netherlands. Ninety-seven MZ pairs (194 individuals) discordant for MDD were included. Different methods to address non independently-and-identically distributed (non-i.i.d.) data were evaluated. Machine-learning methods with feature selection centered on support vector machine and random forest were used to build a classifier to predict cases and controls based on epivariations. The most informative variants were mapped to genes and carried forward for network analysis. A mixture approach using principal component analysis (PCA) and Bayes methods allowed to combine the three studies and to leverage the increased predictive power provided by the larger sample. A machine-learning algorithm with feature reduction classified affected from non-affected twins above chance levels in an independent training-testing design. Network analysis revealed gene networks centered on the PPAR−γ (NR1C3) and C-MYC gene hubs interacting through the AP-1 (c-Jun) transcription factor. PPAR−γ (NR1C3) is a drug target for pioglitazone, which has been shown to reduce depression symptoms in patients with MDD. Using a data-driven approach we were able to overcome challenges of non-i.i.d. data when combining epigenetic studies from MZ twins discordant for MDD. Individually, the studies

  9. Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.

    PubMed

    Yu, Zihua; Yang, Yonghui; Feng, Dongning

    2012-06-01

    Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same phenotype with identical WT1 mutations. In this study, we report on female monozygotic twins showing discordant phenotypes with an identical de novo WT1 mutation, R394W, and presenting incomplete Denys-Drash syndrome and ISRNS. PMID:26069768

  10. [Discordance analysis of monozygotic twin pairs. Case study on psychogenesis].

    PubMed

    Schepank, H

    1975-01-01

    We performed a discordance-analysis on six pairs of identical twins. They were selected from a large series of neurotic patients who came to visit one of two psychoanalytic outpatient departments. The results of this elaborate case studies are discussed here. The classical twin methods usually will help to clear the question of naturenurture-relation. Contrary to this the aim of discordance-analysis is to proof specific environmental factors which influence development of neurotic illness. The application of this method is rarely possible, because several conditions have to be fullfilled: The patients have to be identical twins; they must be available and willing to undergo psychoanalytic interview; apart from this they must present discordant neurotic complaints.--By a very exact analysis of the early childhood influences we can draw conclusions about psychogenesis of neutotic illness in later life. This method owns extraordinary advantages because of the existence of a control person with identical genetic outfit. PMID:1231414

  11. Differential expression of proteins in monozygotic twins with discordance of infantile esotropic phenotypes

    PubMed Central

    Bai, Haiqing; Yan, Zhiyong; Ma, Yuna; Li, Hui

    2011-01-01

    Purpose To identify strabismus-related proteins, we performed proteome analysis in monozygotic twins with discordance of congenital esotropic phenotypes and in normal children. Methods Surface-enhanced laser desorption/ ionization time-of-flight mass spectrometry (SELDI-TOF-MS) technology was used to detect changes in protein expression in a pair of twins with discordant esotropic phenotypes (twin A is orthotropic and twin B is esotropic). In addition, two non-twin esotropic children and two orthotropic children of the same age were chosen. The differentially expressed proteome obtained was validated in twelve non-twin esotropic children and eighteen orthotropic children and compared to the protein database. Results We detected four differentially expressed proteins in monozygotic twins with discordance of congenital esotropic phenotypes. The corresponding molecular weights were 4,146 Da, 4,801 Da, 7,786 Da, and 5,859 Da, respectively. Among these 4 proteins, the first three proteins were down-regulated and the last was upregulated. The initial characterization of these detected proteins via protein library revealed that their characteristics were similar to those of the glucagon precursor, pituitary adenylate cyclase-activating polypeptide (PACAP), camp-dependent protein kinase inhibitor α, and anti-metastasis gene (antigen), respectively. Conclusions There were differentially expressed proteins between monozygotic twins with discordance of congenital esotropic phenotypes and normal children. These differentially expressed proteins were mainly down-regulated in the strabismus patients and may be involved in the occurrence and development of congenital esotropia. PMID:21738391

  12. Monozygotic twins concordant and discordant for DCD: two sides to the story.

    PubMed

    Pearsall-Jones, Jillian G; Piek, Jan P; Steed, Lyndall; McDougall, Megan R; Levy, Florence

    2011-02-01

    Being an identical twin does not necessarily mean having identical perceptions of family functioning, nor of the twin relationship. Using the co-twin control design, the aim of this study was to explore perceptions of family dynamics and the twin relationship in monozygotic (MZ) twins discordant and concordant for Developmental Coordination Disorder (DCD). It was hypothesized that, as has been found in twins discordant for cerebral palsy, twins without DCD would perceive family functioning as less healthy than would their co-twins with DCD. It was also hypothesized that the twin relationship would be regarded generally as mutually supportive. Questionnaire data on 866 sets of MZ twins aged 6 to 17 years were used to identify seven sets discordant, and two sets concordant for DCD. Quantitative (General Functioning Scale of the Family Assessment Device - FAD), and qualitative (semi-structured interview) measures were used to assess family dynamics and the twin relationship. In discordant sets, six of seven twins without DCD rated family functioning at a less healthy level than did their co-twins with DCD. All twins in the DCD concordant sets rated their family functioning at a healthy level. From the semi-structured interviews, emergent themes included friendship, support, minimal sibling rivalry, and minor difficulties. It was concluded that, overall, the twin relationship was regarded as close and mutually supportive, with an ambivalent polarity between the best and most difficult aspects of being an identical twin. Implications for research, policy and clinical practice are discussed. PMID:21314259

  13. Discordant sex in monozygotic XXY/XX twins: a case report.

    PubMed

    Tachon, G; Lefort, G; Puechberty, J; Schneider, A; Jeandel, C; Boulot, P; Prodhomme, O; Meyer, P; Taviaux, S; Touitou, I; Pellestor, F; Geneviève, D; Gatinois, V

    2014-12-01

    We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects. PMID:25336706

  14. Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome

    PubMed Central

    Kunio, Miyake; Yang, Chunshu; Minakuchi, Yohei; Ohori, Kenta; Soutome, Masaki; Hirasawa, Takae; Kazuki, Yasuhiro; Adachi, Noboru; Suzuki, Seiko; Itoh, Masayuki; Goto, Yu-ichi; Andoh, Tomoko; Kurosawa, Hiroshi; Akamatsu, Wado; Ohyama, Manabu; Okano, Hideyuki; Oshimura, Mitsuo; Sasaki, Masayuki; Toyoda, Atsushi; Kubota, Takeo

    2013-01-01

    Monozygotic (identical) twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288), which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue). No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs), insertion-deletion polymorphisms (indels), or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX), Brain-type Creatine Kinase (CKB), and FYN Tyrosine Kinase Protooncogene (FYN). The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins. PMID:23805272

  15. Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.

    PubMed

    Miyake, Kunio; Yang, Chunshu; Minakuchi, Yohei; Ohori, Kenta; Soutome, Masaki; Hirasawa, Takae; Kazuki, Yasuhiro; Adachi, Noboru; Suzuki, Seiko; Itoh, Masayuki; Goto, Yu-Ichi; Andoh, Tomoko; Kurosawa, Hiroshi; Oshimura, Mitsuo; Sasaki, Masayuki; Toyoda, Atsushi; Kubota, Takeo

    2013-01-01

    Monozygotic (identical) twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288), which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue). No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs), insertion-deletion polymorphisms (indels), or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX), Brain-type Creatine Kinase (CKB), and FYN Tyrosine Kinase Protooncogene (FYN). The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins. PMID:23805272

  16. Environmental Factors in Obsessive-Compulsive Behavior: Evidence from Discordant and Concordant Monozygotic Twins

    PubMed Central

    van Grootheest, Daniel S.; Willemsen, Gonneke; van Oppen, Patricia; Boomsma, Dorret I.

    2008-01-01

    To investigate environmental factors that protect against or exacerbate obsessive-compulsive (OC) symptoms, we selected 25 monozygotic (MZ) twin pairs discordant, 17 MZ twin pairs concordant high and 34 MZ pairs concordant low on OC symptoms from a large longitudinal Dutch sample of adult twin pairs and their family members, applying stringent criteria for OC symptomatology. Data were collected on psychopathology, family structure, health, lifestyle, birth complications and life events. Unique environmental factors were studied using within-discordant MZ pair comparisons, whereas between-concordant MZ pair comparisons were used to study environmental factors that are shared by the twins of an MZ pair. The high-scoring MZ twins of the discordant group reported more life events (especially sexual abuse) than their low-scoring twin-siblings. The between-pair comparisons showed lower birth weight in the discordant MZ pairs than in the concordant MZ pairs. Further, the concordant high MZ pairs as well as their spouses had a lower educational level than the two other groups. On scale scores of anxious-depression, neuroticism, and somatic complaints, concordant high MZ pairs showed highest scores, and the discordant MZ pairs scored intermediate, except for neuroticism, on which the high-scoring twins of discordant MZ pairs were equal to the concordant high pairs. Discordance on psychological scale scores between the concordant MZ pairs was evident from 1991 onward, and within the discordant MZ pairs from 1997 onward, confirming previous reports of an association of early-onset OC symptoms with higher genetic load. Parent scores of OC symptoms and anxious-depression suggested intermediate genetic load in the discordant MZ group. In conclusion, this study reports on both unique and shared environmental factors associated with OC symptomatology. Whether these factors operate in addition to or in interaction with genetic disposition is to be elucidated in future studies

  17. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits.

    PubMed

    Wong, C C Y; Meaburn, E L; Ronald, A; Price, T S; Jeffries, A R; Schalkwyk, L C; Plomin, R; Mill, J

    2014-04-01

    Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although the aetiology of ASD has a strong genetic component, there is considerable monozygotic (MZ) twin discordance indicating a role for non-genetic factors. Because MZ twins share an identical DNA sequence, disease-discordant MZ twin pairs provide an ideal model for examining the contribution of environmentally driven epigenetic factors in disease. We performed a genome-wide analysis of DNA methylation in a sample of 50 MZ twin pairs (100 individuals) sampled from a representative population cohort that included twins discordant and concordant for ASD, ASD-associated traits and no autistic phenotype. Within-twin and between-group analyses identified numerous differentially methylated regions associated with ASD. In addition, we report significant correlations between DNA methylation and quantitatively measured autistic trait scores across our sample cohort. This study represents the first systematic epigenomic analyses of MZ twins discordant for ASD and implicates a role for altered DNA methylation in autism. PMID:23608919

  18. Attention Problems and Attention-Deficit/Hyperactivity Disorder in Discordant and Concordant Monozygotic Twins: Evidence of Environmental Mediators

    ERIC Educational Resources Information Center

    Lehn, Hanne; Derks, Eske M.; Hudziak, James J.; Heutink, Peter; van Beijsterveldt, Toos; Boomsma, Dorret I.

    2007-01-01

    Objective: To study familial and nonfamilial environmental influences on attention problems and attention-deficit/hyperactivity disorder (ADHD) in monozygotic twins discordant and concordant-high and low for these traits. Method: Ninety-five twin pairs from The Netherlands Twin Register were selected. Longitudinal survey data were collected at 1,…

  19. fMRI and corpus callosum relationships in monozygotic twins discordant for handedness.

    PubMed

    Gurd, J M; Cowell, P E; Lux, S; Rezai, R; Cherkas, L; Ebers, G C

    2013-03-01

    To further investigate brain structure and function in 26 handedness discordant monozygotic twin pairs (MzHd), MRI and behavioural assessments were carried out. These showed significant correlation between language-specific functional laterality in inferior and middle frontal gyri, and anterior corpus callosum. Previous studies of handedness discordant monozygotic twins failed to resolve the issue concerning handedness and hemispheric laterality for language due to methodological disparities. The results would be relevant to genetic theories as well as to brain structure:function explanations. MzHd twins underwent MRI and fMRI scanning as well as behavioural assessment of motor performance and cognition. There were significant differences on MRI and fMRI laterality measures, as well as a significant correlation between anterior callosal widths and functional laterality. LH twins showed higher frequencies of atypical functional laterality. There was no significant within-twin pair correlation on fMRI verbal laterality, nor did results show within-twin pair differences on verbal fluency or IQ. Implications for the field of laterality research pertain to frontal hemispheric equipotentiality for verbal processes in healthy individuals. In particular, there can be an apparent lack of cognitive 'cost' to atypical laterality. An fMRI verbal laterality index correlated significantly with corpus callosum widths near Broca's area. PMID:22527119

  20. The road not taken: life experiences in monozygotic twin pairs discordant for major depression

    PubMed Central

    Kendler, KS; Halberstadt, LJ

    2012-01-01

    In an effort to understand how environmental experiences contribute to risk for major depression (MD), we conducted joint autobiographical interviews with 14 pairs of monozygotic twins (mean age 51.2) rigorously discordant for a lifetime history of MD. Twelve of the pairs could be sorted into four broad categories. In two pairs, discordance was associated with a single traumatic event occurring to the affected twin. In seven pairs, the well twin had one stable, long-term, successful romantic relationship, whereas the affected co-twin had romantic reversals one or more of which precipitated depressive episodes. These pairs varied in the degree to which the romantic problems seemed to arise from bad luck or poor choices. In one pair, occupational difficulties were strongly related to discordance in experiences with MD. In two pairs, several mechanisms seemed to be at work. Discordance in the quality of intimate love relationships was the most common etiological factor revealed by interview in these discordant pairs, with single dramatic events and occupational problems being considerably rarer. Even in this best of natural experiments, the causal interrelationship between personality, environment and depressive episodes was not always clear. Many pairs illustrated the protective effects of planfulness and the malignant effect of cumulative continuity where early difficulties in relationships shaped the subsequent life course. These results speak both to the importance of environmental influences on human well-being and psychopathology, and the complexity of the causal paths underlying their effects. PMID:22641178

  1. Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease

    PubMed Central

    Brickell, Kiri L; Leverenz, James B; Steinbart, Ellen J; Rumbaugh, Malia; Schellenberg, Gerard D; Nochlin, David; Lampe, Thomas H; Holm, Ida E; Van Deerlin, Vivianna; Yuan, Wuxing; Bird, Thomas D

    2007-01-01

    Aim Neuropathological examination of both individuals in a monozygotic (MZ) twin pair with Alzheimer's disease (AD) is rare, especially in the molecular genetic era. We had the opportunity to assess the concordance and discordance of clinical presentation and neuropathology in three MZ twin pairs with AD. Methods The MZ twins were identified and characterised by the University of Washington Alzheimer's Disease Research Center. We reviewed the available clinical and neuropathological records for all six cases looking specifically for concordance and discordance of clinical phenotype, neuritic amyloid plaques (NP), neurofibrillary tangles (NFT) and Lewy related pathology (LRP). Results Discordance in age of onset for developing AD in the MZ twins varied from 4 to 18 years. Clinical presentations also differed between twins. One twin presented with a dementia with Lewy Body clinical syndrome while the other presented with typical clinical AD. Neuropathology within the MZ twin pairs was concordant for NP and NFT, regardless of duration of disease, and was discordant for LRP. This difference was most marked in the late onset AD twin pair. One pair was found to have a mutation in presenilin‐1 (PS1) (A79V) with remarkably late onset in a family member. Conclusions MZ twins with AD can vary considerably in age of onset, presentation and disease duration. The concordance of NP and NFT pathological change and the discordance of LRP support the concept that, in AD, the former are primarily under genetic control whereas the latter (LRP) is more influenced by disease duration and environmental factors. The A79V mutation in PS1 can be associated with very late onset of dementia. PMID:17615170

  2. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

    PubMed

    Izumi, Kosuke; Hayashi, Daisuke; Grochowski, Christopher M; Kubota, Noriko; Nishi, Eriko; Arakawa, Michiko; Hiroma, Takehiko; Hatata, Tomoko; Ogiso, Yoshifumi; Nakamura, Tomohiko; Falsey, Alexandra M; Hidaka, Eiko; Spinner, Nancy B

    2016-02-01

    Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features. Alagille syndrome is typically the result of germline mutations in JAG1 or NOTCH2 and is one of several human diseases caused by Notch signaling abnormalities. A wide phenotypic spectrum has been well documented in Alagille syndrome. Therefore, monozygotic twins with Alagille syndrome provide a unique opportunity to evaluate potential phenotypic modifiers such as environmental factors or stochastic effects of gene expression. In this report, we describe an Alagille syndrome monozygotic twin pair with discordant placental and clinical findings. We propose that environmental factors such as prenatal hypoxia may have played a role in determining the phenotypic severity. PMID:26463753

  3. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration.

    PubMed

    Ketelaar, M E; Hofstra, E M W; Hayden, M R

    2012-04-01

    As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets. PMID:21981075

  4. Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences.

    PubMed

    Czyz, Witold; Morahan, Julia M; Ebers, George C; Ramagopalan, Sreeram V

    2012-01-01

    Genetic-epidemiological studies on monozygotic (MZ) twins have been used for decades to tease out the relative contributions of genes and the environment to a trait. Phenotypic discordance in MZ twins has traditionally been ascribed to non-shared environmental factors acting after birth, however recent data indicate that this explanation is far too simple. In this paper, we review other reasons for discordance, including differences in the in utero environment, genetic mosaicism, and stochastic factors, focusing particularly on epigenetic discordance. Epigenetic differences are gaining increasing recognition. Although it is clear that in specific cases epigenetic alterations provide a causal factor in disease etiology, the overall significance of epigenetics in twin discordance remains unclear. It is also challenging to determine the causality and relative contributions of environmental, genetic, and stochastic factors to epigenetic variability. Epigenomic profiling studies have recently shed more light on the dynamics of temporal methylation change and methylome heritability, yet have not given a definite answer regarding their relevance to disease, because of limitations in establishing causality. Here, we explore the subject of epigenetics as another component in human phenotypic variability and its links to disease focusing particularly on evidence from MZ twin studies. PMID:22898292

  5. Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences

    PubMed Central

    2012-01-01

    Genetic-epidemiological studies on monozygotic (MZ) twins have been used for decades to tease out the relative contributions of genes and the environment to a trait. Phenotypic discordance in MZ twins has traditionally been ascribed to non-shared environmental factors acting after birth, however recent data indicate that this explanation is far too simple. In this paper, we review other reasons for discordance, including differences in the in utero environment, genetic mosaicism, and stochastic factors, focusing particularly on epigenetic discordance. Epigenetic differences are gaining increasing recognition. Although it is clear that in specific cases epigenetic alterations provide a causal factor in disease etiology, the overall significance of epigenetics in twin discordance remains unclear. It is also challenging to determine the causality and relative contributions of environmental, genetic, and stochastic factors to epigenetic variability. Epigenomic profiling studies have recently shed more light on the dynamics of temporal methylation change and methylome heritability, yet have not given a definite answer regarding their relevance to disease, because of limitations in establishing causality. Here, we explore the subject of epigenetics as another component in human phenotypic variability and its links to disease focusing particularly on evidence from MZ twin studies. PMID:22898292

  6. A Discordant Monozygotic Twin Design Shows Blunted Cortisol Reactivity Among Bullied Children

    PubMed Central

    Ouellet-Morin, Isabelle; Danese, Andrea; Bowes, Lucy; Shakoor, Sania; Ambler, Antony; Pariante, Carmine M.; Papadopoulos, Andrew S.; Caspi, Avshalom; Moffitt, Terrie E.; Arseneault, Louise

    2013-01-01

    Objective Childhood adverse experiences are known to engender persistent changes in stress-related systems and brain structures involved in mood, cognition, and behavior in animal models. Uncertainty remains about the causal effect of early stressful experiences on physiological response to stress in human beings, as the impact of these experiences has rarely been investigated while controlling for both genetic and shared environmental influences. Method We tested whether bullying victimization, a repeated adverse experience in childhood, influences cortisol responses to a psychosocial stress test (PST) using a discordant monozygotic (MZ) twin design. Thirty pairs (43.3% males) of 12-year-old MZ twins discordant for bullying victimization were identified in the Environmental Risk (E-Risk) Longitudinal Twin Study, a nationally representative 1994–1995 cohort of families with twins. Results Bullied and nonbullied MZ twins showed distinct patterns of cortisol secretion after the PST. Specifically, bullied twins exhibited a blunted cortisol response compared with their nonbullied MZ co-twins, who showed the expected increase. This difference in cortisol response to stress could not be attributed to children's genetic makeup, their familial environments, pre-existing and concomitant individual factors, or the perception of stress and emotional response to the PST. Conclusion Results from this natural experiment provide support for a causal effect of adverse childhood experiences on the neuroendocrine response to stress. PMID:21621141

  7. Intra-Monozygotic Twin Pair Discordance and Longitudinal Variation of Whole-Genome Scale DNA Methylation in Adults

    PubMed Central

    Zhang, Su-Hua; Chen, Jinzhong; Lu, Daru; Shen, Min; Li, Chengtao

    2015-01-01

    Monozygotic twins share identical genomic DNA and are indistinguishable using conventional genetic markers. Increasing evidence indicates that monozygotic twins are epigenetically distinct, suggesting that a comparison between DNA methylation patterns might be useful to approach this forensic problem. However, the extent of epigenetic discordance between healthy adult monozygotic twins and the stability of CpG loci within the same individual over a short time span at the whole-genome scale are not well understood. Here, we used Infinium HumanMethylation450 Beadchips to compare DNA methylation profiles using blood collected from 10 pairs of monozygotic twins and 8 individuals sampled at 0, 3, 6, and 9 months. Using an effective and unbiased method for calling differentially methylated (DM) CpG sites, we showed that 0.087%–1.530% of the CpG sites exhibit differential methylation in monozygotic twin pairs. We further demonstrated that, on whole-genome level, there has been no significant epigenetic drift within the same individuals for up to 9 months, including one monozygotic twin pair. However, we did identify a subset of CpG sites that vary in DNA methylation over the 9-month period. The magnitude of the intra-pair or longitudinal methylation discordance of the CpG sites inside the CpG islands is greater than those outside the CpG islands. The CpG sites located on shores appear to be more suitable for distinguishing between MZ twins. PMID:26248206

  8. Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.

    PubMed

    Souren, Nicole Y P; Gerdes, Lisa A; Kümpfel, Tania; Lutsik, Pavlo; Klopstock, Thomas; Hohlfeld, Reinhard; Walter, Jörn

    2016-08-01

    We examined the debated link between mitochondrial DNA (mtDNA) variation and multiple sclerosis (MS) using 49 monozygotic (MZ) twin pairs clinically discordant for MS, which enables to associate de novo mtDNA variants, skewed heteroplasmy, and mtDNA copy number with MS manifestation. Ultra-deep sequencing of blood-derived mtDNA revealed 25 heteroplasmic variants with potentially pathogenic features in 18 pairs. All variants were pair-specific and had low and/or similar heteroplasmy levels in both cotwins. In one pair, a confirmed pathogenic variant (m.11778G>A, heteroplasmy ∼50%) associated with Leber hereditary optic neuropathy was detected. Detailed diagnostic investigation revealed subclinical MS signs in the prior nondiseased cotwin. Moreover, neither mtDNA deletions nor copy-number variations were involved. Furthermore, the majority of heteroplasmic variants were shared among MZ twins and exhibited more similar heteroplasmy levels in the same tissue of MZ twins as compared with different tissues of the same individual. Heteroplasmy levels were also more similar within MZ twins compared with nonidentical siblings. Our analysis excludes mtDNA variation as a major driver of the discordant clinical manifestation of MS in MZ twins, and provides valuable insights into the occurrence and distribution of heteroplasmic variants within MZ twins and nonidentical siblings, and across different tissues. PMID:27119776

  9. Bronchial reactivity and allergy-promoting factors in monozygotic twins discordant for allergic rhinitis.

    PubMed

    Ericsson, C H; Svartengren, M; Mossberg, B; Pedersen, N; Camner, P

    1991-07-01

    Bronchial reactivity was studied twice in eight monozygotic twin pairs discordant for allergic rhinitis with pollen hypersensitivity, during the winter season (all eight pairs) and during the pollen season (seven pairs). On both occasions, the allergic twins showed significantly higher reactivity than their nonallergic siblings. The results indicate that moderate allergic rhinitis is associated with increased bronchial reactivity. This increased reactivity is an acquired trait; however, bronchial reactivity is not constantly increased in pollen rhinitis and may be normal even during the pollen season. The symptoms of allergic rhinitis usually started in childhood before the separation of the siblings. We could not demonstrate any major differences in exposure to allergens or airway irritants between the siblings. The allergic twins tended to have lower birth weight and insufficient weight increase just after birth. PMID:1859042

  10. Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

    PubMed Central

    Chaiyasap, Pongsathorn; Kulawonganunchai, Supasak; Srichomthong, Chalurmpon; Tongsima, Sissades; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

    2014-01-01

    Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identified a pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy. Twin-zygosity was confirmed by microsatellite genotyping. We hypothesized that some genetic differences from post-twinning mutations caused the discordant phenotypes. Thus, next generation sequencing (NGS) technologies were applied to sequence both whole genome and exome of their leukocytes. The post-analyses of the sequencing data revealed 21 putative discordant exonic variants between the twins from either genome or exome data. However, of the 15 variants chosen for validation with conventional Sanger sequencing, these candidate variants showed no differences in both twins. The fact that no discordant DNA variants were found suggests that sequence differences of DNA from leukocytes of monozygotic twins might be extremely rare. It also emphasizes the limitation of the current NGS technology in identifying causative genes for discordant phenotypes in monozygotic twins. PMID:24950249

  11. Novel Epigenetic Changes Unveiled by Monozygotic Twins Discordant for Smoking Habits

    PubMed Central

    Allione, Alessandra; Marcon, Francesca; Fiorito, Giovanni; Guarrera, Simonetta; Siniscalchi, Ester; Zijno, Andrea; Crebelli, Riccardo; Matullo, Giuseppe

    2015-01-01

    Exposure to cigarette smoking affects the epigenome and could increase the risk of developing diseases such as cancer and cardiovascular disorders. Changes in DNA methylation associated with smoking may help to identify molecular pathways that contribute to disease etiology. Previous studies are not completely concordant in the identification of differentially methylated regions in the DNA of smokers. We performed an epigenome-wide DNA methylation study in a group of monozygotic (MZ) twins discordant for smoking habits to determine the effect of smoking on DNA methylation. As MZ twins are considered genetically identical, this model allowed us to identify smoking-related DNA methylation changes independent from genetic components. We investigated the whole blood genome-wide DNA methylation profiles in 20 MZ twin pairs discordant for smoking habits by using the Illumina HumanMethylation450 BeadChip. We identified 22 CpG sites that were differentially methylated between smoker and non-smoker MZ twins by intra-pair analysis. We confirmed eight loci already described by other groups, located in AHRR, F2RL3, MYOG1 genes, at 2q37.1 and 6p21.33 regions, and also identified several new loci. Moreover, pathway analysis showed an enrichment of genes involved in GTPase regulatory activity. Our study confirmed the evidence of smoking-related DNA methylation changes, emphasizing that well-designed MZ twin models can aid the discovery of novel DNA methylation signals, even in a limited sample population. PMID:26043106

  12. Novel epigenetic changes unveiled by monozygotic twins discordant for smoking habits.

    PubMed

    Allione, Alessandra; Marcon, Francesca; Fiorito, Giovanni; Guarrera, Simonetta; Siniscalchi, Ester; Zijno, Andrea; Crebelli, Riccardo; Matullo, Giuseppe

    2015-01-01

    Exposure to cigarette smoking affects the epigenome and could increase the risk of developing diseases such as cancer and cardiovascular disorders. Changes in DNA methylation associated with smoking may help to identify molecular pathways that contribute to disease etiology. Previous studies are not completely concordant in the identification of differentially methylated regions in the DNA of smokers. We performed an epigenome-wide DNA methylation study in a group of monozygotic (MZ) twins discordant for smoking habits to determine the effect of smoking on DNA methylation. As MZ twins are considered genetically identical, this model allowed us to identify smoking-related DNA methylation changes independent from genetic components. We investigated the whole blood genome-wide DNA methylation profiles in 20 MZ twin pairs discordant for smoking habits by using the Illumina HumanMethylation450 BeadChip. We identified 22 CpG sites that were differentially methylated between smoker and non-smoker MZ twins by intra-pair analysis. We confirmed eight loci already described by other groups, located in AHRR, F2RL3, MYOG1 genes, at 2q37.1 and 6p21.33 regions, and also identified several new loci. Moreover, pathway analysis showed an enrichment of genes involved in GTPase regulatory activity. Our study confirmed the evidence of smoking-related DNA methylation changes, emphasizing that well-designed MZ twin models can aid the discovery of novel DNA methylation signals, even in a limited sample population. PMID:26043106

  13. Discordant Growth of Monozygotic Twins Starts at the Blastocyst Stage: A Case Study

    PubMed Central

    Noli, Laila; Capalbo, Antonio; Ogilvie, Caroline; Khalaf, Yacoub; Ilic, Dusko

    2015-01-01

    Summary Discordant growth is a common complication of monochorionic/diamniotic pregnancies; in approximately 50% of cases, the cause is unknown. The case presented here suggests that discordant growth of monozygotic twins could start during preimplantation development. Two inner cell masses (ICMs) within the same blastocyst may originate in uneven splitting of a single “parental” ICM, or the two ICMs may be formed independently de novo. We studied the transcriptomes of two morphologically distinct ICMs within a single blastocyst using high-resolution RNA sequencing. The data indicated that the two ICM were at different stages of development; one was in the earliest stages of lineage commitment, while the other had already differentiated into epiblast and primitive endoderm. IGF1-mediated signaling is likely to play a key role in ICM growth and to be the major driver behind these differences. PMID:26584541

  14. Acquired differences in brain responses among monozygotic twins discordant for restrained eating.

    PubMed

    Schur, Ellen A; Kleinhans, Natalia M; Goldberg, Jack; Buchwald, Dedra S; Polivy, Janet; Del Parigi, Angelo; Maravilla, Kenneth R

    2012-01-18

    We studied whether self-reported intent to exert cognitive control over eating was associated with differences in brain response to food cues, independent of genetic background. Subjects were ten pairs of identical twins in which one twin was a restrained eater and the co-twin was unrestrained, as classified by the Herman and Polivy Restraint Scale. Before and after ingestion of a milkshake, we used functional magnetic resonance imaging to measure brain response to photographs of objects, "fattening" food, and "non-fattening" food. At baseline, restrained eaters had greater activation in the left amygdala and the right thalamus in response to fattening food cues than did their unrestrained co-twins. When restrained eaters drank a milkshake, activation in response to fattening food photographs decreased across multiple brain areas, whereas activation induced by non-fattening food photographs increased. As compared to their unrestrained co-twins, restrained eaters who drank a milkshake had greater decreases in activation by fattening food images in the left amygdala and occipital lobe, and greater increases in activation by non-fattening food images in the medial orbitofrontal cortex. Because of the discordant monozygotic twin study design, the findings provide a rigorous level of support for the hypothesis that adopting an intention to restrain eating alters brain response to food cues. PMID:21945867

  15. Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins.

    PubMed

    Elboudwarej, Emon; Cole, Michael; Briggs, Farren B S; Fouts, Alexandra; Fain, Pamela R; Quach, Hong; Quach, Diana; Sinclair, Elizabeth; Criswell, Lindsey A; Lane, Julie A; Steck, Andrea K; Barcellos, Lisa F; Noble, Janelle A

    2016-04-01

    Genetic susceptibility to type 1 diabetes (T1D) is well supported by epidemiologic evidence; however, disease risk cannot be entirely explained by established genetic variants identified so far. This study addresses the question of whether epigenetic modification of the inherited DNA sequence may contribute to T1D susceptibility. Using the Infinium HumanMethylation450 BeadChip array (450k), a total of seven long-term disease-discordant monozygotic (MZ) twin pairs and five pairs of HLA-identical, disease-discordant non-twin siblings (NTS) were examined for associations between DNA methylation (DNAm) and T1D. Strong evidence for global hypomethylation of CpG sites within promoter regions in MZ twins with TID compared to twins without T1D was observed. DNA methylation data were then grouped into three categories of CpG sites for further analysis, including those within: 1) the major histocompatibility complex (MHC) region, 2) non-MHC genes with reported T1D association through genome wide association studies (GWAS), and 3) the epigenome, or remainder of sites that did not include MHC and T1D associated genes. Initial results showed modest methylation differences between discordant MZ twins for the MHC region and T1D-associated CpG sites, BACH2, INS-IGF2, and CLEC16A (DNAm difference range: 2.2%-5.0%). In the epigenome CpG set, the greatest methylation differences were observed in MAGI2, FANCC, and PCDHB16, (DNAm difference range: 6.9%-16.1%). These findings were not observed in the HLA-identical NTS pairs. Targeted pyrosequencing of five candidate CpG loci identified using the 450k array in the original discordant MZ twins produced similar results using control DNA samples, indicating strong agreement between the two DNA methylation profiling platforms. However, findings for the top five candidate CpG loci were not replicated in six additional T1D-discordant MZ twin pairs. Our results indicate global DNA hypomethylation within gene promoter regions may contribute to T

  16. Progression in Substance Use Initiation: A Multilevel Discordant Monozygotic Twin Design

    PubMed Central

    Richmond-Rakerd, Leah S.; Slutske, Wendy S.; Deutsch, Arielle R.; Lynskey, Michael T.; Agrawal, Arpana; Madden, Pamela A.F.; Bucholz, Kathleen K.; Heath, Andrew C.; Martin, Nicholas G.

    2015-01-01

    Considerable attention has been paid to the “gateway” pattern of drug use initiation in which individuals progress from tobacco and alcohol use to cannabis and other illicit drugs. The extent to which this sequence reflects a causal impact of licit substance use on illicit substance involvement remains unclear. Clarifying the mechanisms underlying substance use initiation may help inform our understanding of risk for psychopathology, as increasing research is demonstrating associations between initiation patterns and heavier involvement. This study examined patterns of substance use initiation using a discordant twin design. Participants were 3,476 monozygotic twins (37% male) from the Australian Twin Registry who reported on their ages of tobacco, alcohol, and cannabis initiation. Multilevel proportional hazard regression models were employed to (a) estimate within-twin-pair and between-twin-pair contributions to associations between the ages of onset of different drugs; and (b) examine whether the magnitude of effects differed as a function of the order of substance use initiation. Finding significant effects within twin pairs would support the hypothesis that the age of initiation of one substance causally influences the age of initiation of a subsequent substance. Finding significant effects between twin pairs would support the operation of familial influences that explain variation in the ages of initiation of multiple drugs. Within-twin-pair effects for typical patterns were modest. When initiation was atypical, however, larger within-twin-pair effects were observed and causal influences were more strongly implicated. Results support the utility of examining the timing and ordering of substance use initiation within sophisticated, genetically informative designs. PMID:26098047

  17. Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.

    PubMed

    Elalaoui, S C; Garin, I; Sefiani, A; Perez de Nanclares, G

    2014-01-01

    Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a heterogeneous overgrowth syndrome characterized by visceromegaly, macroglossia, tumor predisposition, and other congenital abnormalities. BWS is usually associated with abnormalities of chromosome 11p15, including (epi)genetic changes, paternal disomy and point mutations. A number of identical twin pairs, mostly female, have been reported to be clinically discordant for BWS. Studies of monozygotic twins discordant for BWS provide more information about failure in the DNA methylation maintenance machinery during very early embryonic development. Here, we report a case of monozygotic male twins discordant for BWS phenotype. Methylation analysis of the 2 imprinted domains at 11p15.5 (H19DMR and KvDMR) was performed by methylation-specific MLPA and pyrosequencing of DNA extracted from peripheral blood and buccal swabs of both twins. Hypomethylation at KvDMR was identified in both cell types of the affected twin, whereas his healthy brother presented hypomethylation only in blood cells and a normal methylation profile in buccal swab. For diagnostic purposes, it is important to remember that twins can share fetal circulation and possibly share hematopoietic stem cells early in development; therefore, the affected and unaffected twins can share an epigenotype that will resemble partial hypomethylation. If a patient is a twin, it is valuable to obtain a sample from a tissue other than blood. PMID:24550765

  18. Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing

    PubMed Central

    Lyu, Nan; Guan, Li-Li; Ma, Hong; Wang, Xi-Jin; Wu, Bao-Ming; Shang, Fan-Hong; Wang, Dan; Wen, Hong; Yu, Xin

    2016-01-01

    Background: Schizophrenia (SCZ) is a severe, debilitating, and complex psychiatric disorder with multiple causative factors. An increasing number of studies have determined that rare variations play an important role in its etiology. A somatic mutation is a rare form of genetic variation that occurs at an early stage of embryonic development and is thought to contribute substantially to the development of SCZ. The aim of the study was to explore the novel pathogenic somatic single nucleotide variations (SNVs) and somatic insertions and deletions (indels) of SCZ. Methods: One Chinese family with a monozygotic (MZ) twin pair discordant for SCZ was included. Whole exome sequencing was performed in the co-twin and their parents. Rigorous filtering processes were conducted to prioritize pathogenic somatic variations, and all identified SNVs and indels were further confirmed by Sanger sequencing. Results: One somatic SNV and two somatic indels were identified after rigorous selection processes. However, none was validated by Sanger sequencing. Conclusions: This study is not alone in the failure to identify pathogenic somatic variations in MZ twins, suggesting that exonic somatic variations are extremely rare. Further efforts are warranted to explore the potential genetic mechanism of SCZ. PMID:26960372

  19. A discordant monozygotic twin approach to testing environmental influences on sexual dysfunction in women.

    PubMed

    Burri, Andrea; Spector, Timothy; Rahman, Qazi

    2013-08-01

    The present study explored the causal role played by putative environmental factors on variation in female sexual dysfunction (FSD) by investigating FSD discordant monozygotic (MZ) twins, which permits a control over genetic confounders. In a population-based sample of female twins aged 25-69 years (M = 55 years), MZ twins discordant for recent and lifelong FSD were selected. Sample sizes varied depending on the specific sexual problem (N = 33-90 pairs). The Female Sexual Function Index (FSFI) score was used to discriminate cases from controls. Once genetic factors were controlled for, relationship satisfaction emerged as the strongest independent predictor for recent and lifelong FSD, being associated with FSFI dimensions measuring desire, arousal, and lubrication problems. The association with orgasm problems was especially strong (OR 7.1, 95% CI: 1.9-25.3) as was the association with sexual dissatisfaction (OR 5.1, 95% CI: 2.1-12.1). Furthermore, obsessive-compulsive symptomatology was weakly associated with desire problems (OR 1.5, 95% CI: 1.4-1.8) and anxiety-sensitivity with orgasm problems (OR 1.1, 95% CI: 0.9-1.3). Negligible effects were found for personality factors and small effects for self-reported abusive experiences. These data indicate, for the first time, that in women at identical genetic risk, relationship factors play a key role in the development of sexual problems. These findings require replication in prospective designs which can provide additional powerful tests of the direction of causality between interpersonal factors and later sexual dysfunction. PMID:23605671

  20. Genome, Epigenome and RNA sequences of Monozygotic Twins Discordant for Multiple Sclerosis

    SciTech Connect

    Miller, Neil

    2010-06-02

    Neil Miller, Deputy Director of Software Engineering at the National Center for Genome Resources, discusses a monozygotic twin study on June 2, 2010 at the "Sequencing, Finishing, Analysis in the Future" meeting in Santa Fe, NM

  1. Genome-wide Methylomic Analysis of Monozygotic Twins Discordant for Adolescent Depression

    PubMed Central

    Dempster, Emma L.; Wong, Chloe C.Y.; Lester, Kathryn J.; Burrage, Joe; Gregory, Alice M.; Mill, Jonathan; Eley, Thalia C.

    2014-01-01

    Background Adolescent depression is a common neuropsychiatric disorder that often continues into adulthood and is associated with a wide range of poor outcomes including suicide. Although numerous studies have looked at genetic markers associated with depression, the role of epigenetic variation remains relatively unexplored. Methods Monozygotic (MZ) twins were selected from an adolescent twin study designed to investigate the interplay of genetic and environmental factors in the development of emotional and behavioral difficulties. There were 18 pairs of MZ twins identified in which one member scored consistently higher (group mean within the clinically significant range) on self-rated depression than the other. We assessed genome-wide patterns of DNA methylation in twin buccal cell DNA using the Infinium HumanMethylation450 BeadChip from Illumina. Quality control and data preprocessing was undertaken using the wateRmelon package. Differentially methylated probes (DMPs) were identified using an analysis strategy taking into account both the significance and the magnitude of DNA methylation differences. The top differentially methylated DMP was successfully validated by bisulfite-pyrosequencing, and identified DMPs were tested in postmortem brain samples obtained from patients with major depressive disorder (n = 14) and matched control subjects (n = 15). Results Two reproducible depression-associated DMPs were identified, including the top-ranked DMP that was located within STK32C, which encodes a serine/threonine kinase, of unknown function. Conclusions Our data indicate that DNA methylation differences are apparent in MZ twins discordant for adolescent depression and that some of the disease-associated variation observed in buccal cell DNA is mirrored in adult brain tissue obtained from individuals with clinical depression. PMID:24929637

  2. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

    PubMed

    Veenma, Danielle; Brosens, Erwin; de Jong, Elisabeth; van de Ven, Cees; Meeussen, Connie; Cohen-Overbeek, Titia; Boter, Marjan; Eussen, Hubertus; Douben, Hannie; Tibboel, Dick; de Klein, Annelies

    2012-03-01

    The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of post-zygotic mutations as disease-predisposing events. In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands. Blood-derived DNA from 11 pairs (7 EA and 4 CDH) was screened using high-resolution SNP arrays. Results showed an identical copy number profile in each twin pair. Mosaic chromosome gain or losses could not be detected either with a detection threshold of 20%. Some of the germ-line structural events demonstrated in five out of eleven twin pairs could function as a susceptible genetic background. For example, the 177-Kb loss of chromosome 10q26 in CDH pair-3 harbors the TCF7L2 gene (Tcf4 protein), which is implicated in the regulation of muscle fiber type development and maturation. In conclusion, discrepant CNVs are not a common cause of twin discordancy in these investigated congenital anomaly cohorts. PMID:22071887

  3. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

    PubMed Central

    Veenma, Danielle; Brosens, Erwin; de Jong, Elisabeth; van de Ven, Cees; Meeussen, Connie; Cohen-Overbeek, Titia; Boter, Marjan; Eussen, Hubertus; Douben, Hannie; Tibboel, Dick; de Klein, Annelies

    2012-01-01

    The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of post-zygotic mutations as disease-predisposing events. In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands. Blood-derived DNA from 11 pairs (7 EA and 4 CDH) was screened using high-resolution SNP arrays. Results showed an identical copy number profile in each twin pair. Mosaic chromosome gain or losses could not be detected either with a detection threshold of 20%. Some of the germ-line structural events demonstrated in five out of eleven twin pairs could function as a susceptible genetic background. For example, the 177-Kb loss of chromosome 10q26 in CDH pair-3 harbors the TCF7L2 gene (Tcf4 protein), which is implicated in the regulation of muscle fiber type development and maturation. In conclusion, discrepant CNVs are not a common cause of twin discordancy in these investigated congenital anomaly cohorts. PMID:22071887

  4. A pair of monozygotic twins discordant for homosexuality: sex-dimorphic behavior and penile volume responses.

    PubMed

    McConaghy, N; Blaszczynski, A

    1980-04-01

    In reports of identical twins discordant for homosexuality, the homosexual twins showed the effeminacy syndrome in childhood. This has been considered evidence that the homosexuality comes from the twin himself. The possibility that the heterosexual twin was denying homosexuality has never been excluded. A pair of identical male twins discordant for homosexuality are reported. They showed significant differences in their penile volume responses to moving pictures of male and female nudes indicative of sexual orientations consistent with their statements. The homosexual twin showed the effeminacy syndrome. Aspects of the syndrome can be induced in mammals by altering their hormonal environment during some critical period in their intrauterine development. Discordance for homosexuality in identical twins could be due to one's being exposed to a different hormonal level during such a critical period. PMID:7190381

  5. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

    SciTech Connect

    Oestavik, R.E.; Eiklid, K.; Oerstavik, K.H.

    1995-03-27

    Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process of X chromosome inactivation. We have therefore studied X chromosome inactivation in 13-year-old monozygotic twin girls who were discordant for WBS. In addition, both twins had Tourette syndrome. The twins were monochorionic and therefore the result of a late twinning process. This has also been the case in previously reported discordant twin pairs with information on placentation. X chromosome inactivation was determined in DNA from peripheral blood cells by PCR analysis at the androgen receptor locus. The affected twin had a completely skewed X inactivation, where the paternal allele was on the active X chromosome in all cells. The unaffected twin had a moderately skewed X inactivation in the same direction, whereas the mother had a random pattern. Further studies are necessary to establish a possible association between the expression of WBS and X chromosome inactivation. 18 refs., 2 figs., 1 tab.

  6. One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.

    PubMed

    Magnusson, Patrik K E; Lee, Donghwan; Chen, Xu; Szatkiewicz, Jin; Pramana, Setia; Teo, Shumei; Sullivan, Patrick F; Feuk, Lars; Pawitan, Yudi

    2016-04-01

    Monozygotic (MZ) twins stem from the same single fertilized egg and therefore share all their inherited genetic variation. This is one of the unequivocal facts on which genetic epidemiology and twin studies are based. To what extent this also implies that MZ twins share genotypes in adult tissues is not precisely established, but a common pragmatic assumption is that MZ twins are 100% genetically identical also in adult tissues. During the past decade, this view has been challenged by several reports, with observations of differences in post-zygotic copy number variations (CNVs) between members of the same MZ pair. In this study, we performed a systematic search for differences of CNVs within 38 adult MZ pairs who had been misclassified as dizygotic (DZ) twins by questionnaire-based assessment. Initial scoring by PennCNV suggested a total of 967 CNV discordances. The within-pair correlation in number of CNVs detected was strongly dependent on confidence score filtering and reached a plateau of r = 0.8 when restricting to CNVs detected with confidence score larger than 50. The top-ranked discordances were subsequently selected for validation by quantitative polymerase chain reaction (qPCR), from which one single ~120kb deletion in NRXN1 on chromosome 2 (bp 51017111-51136802) was validated. Despite involving an exon, no sign of cognitive/mental consequences was apparent in the affected twin pair, potentially reflecting limited or lack of expression of the transcripts containing this exon in nerve/brain. PMID:26899349

  7. Increased Frequency of Micronuclei in Adults with a History of Childhood Sexual Abuse: A Discordant Monozygotic Twin Study

    PubMed Central

    York, Timothy P.; Brumelle, Jenni; Juusola, Jane; Kendler, Kenneth S.; Eaves, Lindon J.; Amstadter, Ananda B.; Aggen, Steven H.; Jones, Kimberly H.; Ferreira-Gonzalez, Andrea; Jackson-Cook, Colleen

    2013-01-01

    Background Childhood sexual abuse (CSA) is a traumatic life event associated with an increased lifetime risk for psychopathology/morbidity. The long-term biological consequences of CSA-elicited stress on chromosomal stability in adults are unknown. The primary aim of this study was to determine if the rate of acquired chromosomal changes, measured using the cytokinesis-block micronucleus assay on stimulated peripheral blood lymphocytes, differs in adult female monozygotic twins discordant for CSA. Methods Monozygotic twin pairs discordant for CSA were identified from a larger population-based sample of female adult twins for whom the experience of CSA was assessed by self-report (51 individuals including a reference sample). Micronuclei (MN) contain chromatin from structurally normal or abnormal chromosomes that are excluded from the daughter nuclei during cell division and serve as a biomarker to assess acquired chromosomal instability. Results Female twins exposed to CSA exhibited a 1.63-fold average increase in their frequency of MN compared to their nonexposed genetically identical cotwins (Paired t-test, t16 = 2.65, P = 0.017). No additional effects of familial factors were detected after controlling for the effect of CSA exposure. A significant interaction between CSA history and age was observed, suggesting that the biological effects of CSA on MN formation may be cumulative. Conclusions These data support a direct link between CSA exposure and MN formation measured in adults that is not attributable to genetic or environmental factors shared by siblings. Further research is warranted to understand the biological basis for the observed increase in acquired chromosomal findings in people exposed to CSA and to determine if acquired somatic chromosomal abnormalities/somatic clonal mosaicism might mediate the adult pathology associated with CSA. PMID:23383158

  8. Cavum Septum Pellucidum in Monozygotic Twins Discordant for Combat Exposure: Relationship to Posttraumatic Stress Disorder

    PubMed Central

    May, Flavia S.; Chen, Q. Cece; Gilbertson, Mark W.; Shenton, Martha E.; Pitman, Roger K.

    2009-01-01

    Background Abnormally large cavum septum pellucidum has been reported in posttraumatic stress disorder; however, the origin of this association is uncertain. Methods We utilized magnetic resonance imaging to measure cavum septum pellucidum in pairs of identical twins discordant for combat exposure in Vietnam. Results Presence of abnormal cavum septum pellucidum was significantly correlated between exposed and unexposed twins, indicating that it is partially determined by heredity and/or shared environment. There was a greater proportion of cavum septum pellucidum in combat-exposed twins with posttraumatic stress disorder and their noncombat-exposed co-twins. Conclusions The presence of abnormally large cavum septum pellucidum is a familial vulnerability factor for posttraumatic stress disorder. PMID:15013837

  9. Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles

    PubMed Central

    2013-01-01

    Background Low birth weight is associated with an increased adult metabolic disease risk. It is widely discussed that poor intra-uterine conditions could induce long-lasting epigenetic modifications, leading to systemic changes in regulation of metabolic genes. To address this, we acquire genome-wide DNA methylation profiles from saliva DNA in a unique cohort of 17 monozygotic monochorionic female twins very discordant for birth weight. We examine if adverse prenatal growth conditions experienced by the smaller co-twins lead to long-lasting DNA methylation changes. Results Overall, co-twins show very similar genome-wide DNA methylation profiles. Since observed differences are almost exclusively caused by variable cellular composition, an original marker-based adjustment strategy was developed to eliminate such variation at affected CpGs. Among adjusted and unchanged CpGs 3,153 are differentially methylated between the heavy and light co-twins at nominal significance, of which 45 show sensible absolute mean β-value differences. Deep bisulfite sequencing of eight such loci reveals that differences remain in the range of technical variation, arguing against a reproducible biological effect. Analysis of methylation in repetitive elements using methylation-dependent primer extension assays also indicates no significant intra-pair differences. Conclusions Severe intra-uterine growth differences observed within these monozygotic twins are not associated with long-lasting DNA methylation differences in cells composing saliva, detectable with up-to-date technologies. Additionally, our results indicate that uneven cell type composition can lead to spurious results and should be addressed in epigenomic studies. PMID:23706164

  10. Gene expression profiles from discordant monozygotic twins suggest that molecular pathways are shared among multiple systemic autoimmune diseases

    PubMed Central

    2011-01-01

    Introduction The objective of this study is to determine if multiple systemic autoimmune diseases (SAID) share gene expression pathways that could provide insights into pathogenic mechanisms common to these disorders. Methods RNA microarray analyses (Agilent Human 1A(V2) 20K oligo arrays) were used to quantify gene expression in peripheral blood cells from 20 monozygotic (MZ) twin pairs discordant for SAID. Six affected probands with systemic lupus erythematosus (SLE), six with rheumatoid arthritis (RA), eight with idiopathic inflammatory myopathies (IIM), and their same-gendered unaffected twins, were enrolled. Comparisons were made between discordant twin pairs and these were also each compared to 40 unrelated control subjects (matched 2:1 to each twin by age, gender and ethnicity) using statistical and molecular pathway analyses. Relative quantitative PCR was used to verify independently measures of differential gene expression assessed by microarray analysis. Results Probands and unrelated, matched controls differed significantly in gene expression for 104 probes corresponding to 92 identifiable genes (multiple-comparison adjusted P values < 0.1). Differentially expressed genes involved several overlapping pathways including immune responses (16%), signaling pathways (24%), transcription/translation regulators (26%), and metabolic functions (15%). Interferon (IFN)-response genes (IFI27, OASF, PLSCR1, EIF2AK2, TNFAIP6, and TNFSF10) were up-regulated in probands compared to unrelated controls. Many of the abnormally expressed genes played regulatory roles in multiple cellular pathways. We did not detect any probes expressed differentially in comparisons among the three SAID phenotypes. Similarly, we found no significant differences in gene expression when comparing probands to unaffected twins or unaffected twins to unrelated controls. Gene expression levels for unaffected twins appeared intermediate between that of probands and unrelated controls for 6535 probes

  11. iPS Cell-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease

    PubMed Central

    Woodard, Chris M.; Campos, Brian A.; Kuo, Sheng-Han; Nirenberg, Melissa J.; Nestor, Michael W.; Zimmer, Matthew; Mosharov, Eugene; Sulzer, David; Zhou, Hongyan; Paull, Daniel; Clark, Lorraine; Schadt, Eric E.; Sardi, Sergio Pablo; Rubin, Lee; Eggan, Kevin; Brock, Mathew; Lipnick, Scott; Rao, Mahendra; Chang, Stephen; Li, Aiqun; Noggle, Scott

    2014-01-01

    SUMMARY Parkinson’s disease (PD) has been attributed to a combination of genetic and non-genetic factors. We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S) but clinically discordant for PD. We applied induced pluripotent stem (iPS) cell technology for PD disease modeling using the twins’ fibroblasts to evaluate and dissect the genetic and non-genetic contributions. Utilizing fluorescence-activated cell sorting, we obtained a homogenous population of ‘footprint-free’ iPS cell-derived midbrain dopaminergic (mDA) neurons. The mDA neurons from both twins had ~ 50% GBA enzymatic activity, ~ 3-fold elevated α-synuclein protein levels, and a reduced capacity to synthesize and release dopamine. Interestingly, the affected twin’s neurons showed an even lower dopamine level, increased monoamine oxidase B (MAO-B) expression, and impaired intrinsic network activity. Overexpression of wild-type GBA and treatment of MAO-B inhibitors normalized α-synuclein and dopamine levels, suggesting a combination therapy for the affected twin. PMID:25456120

  12. Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

    PubMed Central

    Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, M Reza; Dahoun, Sophie; Santoni, Federico A; Gimelli, Stefania; Guipponi, Michel; Pelte, Marie Françoise; Béna, Frédérique; Antonarakis, Stylianos E; Feki, Anis

    2014-01-01

    Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of genomic background. The alterations observed by genetic analysis at the iPSC level and at first approximation in early development illustrate the developmental disease transcriptional signature of Down syndrome. Moreover, we observed an abnormal neural differentiation of Down syndrome iPSCs in vivo when formed teratoma in NOD-SCID mice, and in vitro when differentiated into neuroprogenitors and neurons. These defects were associated with changes in the architecture and density of neurons, astroglial and oligodendroglial cells together with misexpression of genes involved in neurogenesis, lineage specification and differentiation. Furthermore, we provide novel evidence that dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A ( DYRK1A) on chromosome 21 likely contributes to these defects. Importantly, we found that targeting DYRK1A pharmacologically or by shRNA results in a considerable correction of these defects. PMID:24375627

  13. Increased serotonin transporter gene (SERT) DNA methylation is associated with bullying victimization and blunted cortisol response to stress in childhood: a longitudinal study of discordant monozygotic twins

    PubMed Central

    Ouellet-Morin, I.; Wong, C. C. Y.; Danese, A.; Pariante, C. M.; Papadopoulos, A. S.; Mill, J.; Arseneault, L.

    2014-01-01

    Background Childhood adverse experiences are known to induce persistent changes in the hypothalamic–pituitary–adrenal (HPA) axis reactivity to stress. However, the mechanisms by which these experiences shape the neuroendocrine response to stress remain unclear. Method We tested whether bullying victimization influenced serotonin transporter gene (SERT) DNA methylation using a discordant monozygotic (MZ) twin design. A subsample of 28 MZ twin pairs discordant for bullying victimization, with data on cortisol and DNA methylation, were identified in the Environmental Risk (E-Risk) Longitudinal Twin Study, a nationally representative 1994–1995 cohort of families with twins. Results Bullied twins had higher SERT DNA methylation at the age of 10 years compared with their non-bullied MZ co-twins. This group difference cannot be attributed to the children’s genetic makeup or their shared familial environments because of the study design. Bullied twins also showed increasing methylation levels between the age of 5 years, prior to bullying victimization, and the age of 10 years whereas no such increase was detected in non-bullied twins across time. Moreover, children with higher SERT methylation levels had blunted cortisol responses to stress. Conclusions Our study extends findings drawn from animal models, supports the hypothesis that early-life stress modifies DNA methylation at a specific cytosine–phosphate–guanine (CpG) site in the SERT promoter and HPA functioning and suggests that these two systems may be functionally associated. PMID:23217646

  14. Monochorionic twins discordant for mosaic trisomy 14.

    PubMed

    He, Mai; Pepperell, John R; Gundogan, Fusun; De Paepe, Monique E; Maggio, Lindsay; Lu, Shaolei; Kostadinov, Stefan; O'Brien, Barbara; Delamonte, Suzanne; Pinar, Halit; Tantravahi, Umadevi

    2014-05-01

    Monochorionic-diamniotic twins are usually monozygotic twins and known to be associated with adverse obstetric and perinatal outcomes. Cases of discordant karyotype of monozygotic twins are rare and most involves sex chromosomes. We present the first case of monochorionic twins with discordant karyotype manifested as mosaic trisomy 14 in one twin (B) and a normal karyotype in the other (A). We describe the postmortem pathological and imaging findings of the trisomic twin and for the first time neuropathological findings of this entity. Metaphase chromosome analysis of twin B using fetal tissue showed a 47,XX, +14 karyotype. Chromosomal microarray analysis (CMA) using fetal tissue revealed 38% mosaicism. CMA with placental tissue from both sides demonstrated normal karyotype and confirmed monozygosity, highlighting the value of array based testing on diagnosing mosaicism and zygosity. PMID:24458767

  15. Volume of cerebellar vermis in monozygotic twins discordant for combat exposure: Lack of relationship to post-traumatic stress disorder

    PubMed Central

    Levitt, James J.; Chen, Q. Cece; May, Flavia S.; Gilbertson, Mark W.; Shenton, Martha E.; Pitman, Roger K.

    2009-01-01

    Several functional neuroimaging studies have implicated the cerebellar vermis in post-traumatic stress disorder (PTSD), but there have been no structural neuroimaging studies of this brain structure in PTSD. We utilized magnetic resonance imaging (MRI) with manual tracing to quantify the volumes of three divisions of the mid-sagittal vermis, and their total, within an identical, cotwin control design that employed Vietnam veterans discordant for combat exposure in Vietnam. Each structure’s volume was significantly correlated between twins, indicating a partial familial determination: for anterior superior vermis, r=0.73; for posterior superior vermis, r=0.47; for inferior posterior vermis, r=0.51; and for total vermis, r=0.57. There were no significant differences between the PTSD and non-PTSD veterans for any vermis volume, and no significant main effects or interactions when their non-combat-exposed co-twins were added to the analyses. Thus, the results do not support the structural abnormality of cerebellar vermis in combat-related PTSD. PMID:17097862

  16. Effects of type II collagen epitope carbamylation and citrullination in human leucocyte antigen (HLA)-DR4(+) monozygotic twins discordant for rheumatoid arthritis.

    PubMed

    De Santis, M; Ceribelli, A; Cavaciocchi, F; Generali, E; Massarotti, M; Isailovic, N; Crotti, C; Scherer, H U; Montecucco, C; Selmi, C

    2016-09-01

    The aim of this study is to investigate the effect of the native, citrullinated or carbamylated type II human collagen T cell- and B cell-epitopes on the adaptive immune response in rheumatoid arthritis (RA). Peripheral blood T and B cells obtained from a human leucocyte D4-related (antigen DR4(-) HLA-DR4)(+) woman with early RA, her healthy monozygotic twin and an unrelated HLA-DR3(+) woman with early RA were analysed for activation (CD154/CD69), apoptosis (annexin/7-aminoactinomycin), cytokine production [interferon (IFN)γ/interleukin (IL)-17/IL-4/IL-10/IL-6] and functional phenotype (CD45Ra/CCR7) after stimulation with the collagen native T cell epitope (T261-273), the K264 carbamylated T cell epitope (carT261-273), the native B cell epitope (B359-369) or the R360 citrullinated B cell epitope (citB359-369), and the combinations of these. The T cell memory compartment was activated by T cell epitopes in both discordant DR4(+) twins, but not in the DR3(+) RA. The collagen-specific activation of CD4(+) T cells was induced with both the native and carbamylated T cell epitopes only in the RA twin. Both T cell epitopes also induced IL-17 production in the RA twin, but a greater IL-4 and IL-10 response in the healthy twin. The citrullinated B cell epitope, particularly when combined with the carbamylated T cell epitope, induced B cell activation and an increased IL-6/IL-10 ratio in the RA twin compared to a greater IL-10 production in the healthy twin. Our data suggest that circulating collagen-specific T and B cells are found in HLA-DR4(+) subjects, but only RA activated cells express co-stimulatory molecules and produce proinflammatory cytokines. Carbamylation and citrullination further modulate the activation and cytokine polarization of T and B cells. PMID:27314557

  17. Amino Acid Intakes Are Associated With Bone Mineral Density and Prevalence of Low Bone Mass in Women: Evidence From Discordant Monozygotic Twins.

    PubMed

    Jennings, Amy; MacGregor, Alexander; Spector, Tim; Cassidy, Aedín

    2016-02-01

    Although a higher protein intake, particularly from vegetable sources, has been shown to be associated with higher bone mineral density (BMD) the relative impact of specific amino acids on BMD and risk of osteoporosis remains to be determined. Mechanistic research suggests that a number of specific amino acids, including five nonessential amino acids--alanine, arginine, glutamic acid, glycine, and proline--may play a role in bone health, principally through improved production of insulin and insulin-like growth factor 1 and the synthesis of collagen and muscle protein. However to date, no previous studies have examined the associations between habitual intake of amino acids and direct measures of BMD and prevalence of osteoporosis or osteopenia, and no studies have examined this relationship in discordant identical twin-pairs. In these analyses of female monozygotic twin-pairs discordant for amino acid intake (n = 135), twins with higher intakes of alanine and glycine had significantly higher BMD at the spine than their co-twins with within-pair differences in spine-BMD of 0.012 g/cm(2) (SE 0.01; p = 0.039) and 0.014 g/cm(2) (SE 0.01; p = 0.026), respectively. Furthermore, in cross-sectional multivariable analyses of 3160 females aged 18 to 79 years, a higher intake of total protein was significantly associated with higher DXA-measured BMD at the spine (quartile Q4 to quartile Q1: 0.017 g/cm(2), SE 0.01, p = 0.035) and forearm (Q4 to Q1: 0.010 g/cm(2), SE 0.003, p = 0.002). Intake of six amino acids (alanine, arginine, glutamic acid, leucine, lysine, and proline) were associated with higher BMD at the spine and forearm with the strongest association observed for leucine (Q4 to Q1: 0.024 g/cm(2), SE 0.01, p = 0.007). When intakes were stratified by protein source, vegetable or animal, prevalence of osteoporosis or osteopenia was 13% to 19% lower comparing extreme quartiles of vegetable intake for five amino acids (not glutamic acid or proline). These data provide

  18. Birthweight-Discordance and Differences in Early Parenting Relate to Monozygotic Twin Differences in Behaviour Problems and Academic Achievement at Age 7

    ERIC Educational Resources Information Center

    Asbury, Kathryn; Dunn, Judith F.; Plomin, Robert

    2006-01-01

    This longitudinal monozygotic (MZ) twin differences study explored associations between birthweight and early family environment and teacher-rated behaviour problems and academic achievement at age 7. MZ differences in anxiety, hyperactivity, conduct problems, peer problems and academic achievement correlated significantly with MZ differences in…

  19. Multiple rectal carcinoid tumors in monozygotic twins.

    PubMed

    Doi, Momoko; Ikawa, Osamu; Taniguchi, Hiroki; Kawamura, Takuji; Katsura, Kanade

    2016-08-01

    We report multiple rectal carcinoid tumors in monozygotic twins who, respectively, had 42 and 36 carcinoid tumors in the lower rectum. This is the first report about carcinoid tumors in monozygotic twins. Both twins developed a similar number of rectal carcinoids with a similar distribution. Investigation of their genetic background may provide information about the origin of these tumors. PMID:27334481

  20. Monozygotic twins: genes are not the destiny?

    PubMed

    Chatterjee, Aniruddha; Morison, Ian M

    2011-01-01

    Monozygotic twins are considered to be genetically identical, yet can show high discordance in their phenotypes and disease susceptibility. Several studies have emphasized the influence of external factors and the role of epigenetic polymorphism in conferring this variability. However, some recent high-resolution studies on DNA methylation show contradicting evidence, which poses questions on the extent of epigenetic variability between twins. The advent of next-generation sequencing technologies now allow us to interrogate multiple epigenomes on a massive scale and understand the role of epigenetic modification, especially DNA methylation, in regulating complex traits. This article briefly discusses the recent key findings, unsolved questions in the area, and speculates on the future directions in the field. PMID:22355239

  1. [Blau syndrome in monozygotic twins].

    PubMed

    Milman, Nils; Hansen, Annette; van Overeem Hansen, Thomas; Byg, Keld-Erik; Nielsen, Ole Haagen

    2006-10-16

    This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition. PMID:17069729

  2. Motor Disorder and Anxious and Depressive Symptomatology: A Monozygotic Co-Twin Control Approach

    ERIC Educational Resources Information Center

    Pearsall-Jones, Jillian G.; Piek, Jan P.; Rigoli, Daniela; Martin, Neilson C.; Levy, Florence

    2011-01-01

    The aim of this study was to investigate the relationship between poor motor ability and anxious and depressive symptomatology in child and adolescent monozygotic twins. The co-twin control design was used to explore these mental health issues in MZ twins concordant and discordant for a motor disorder, and controls. This methodology offers the…

  3. Early Infantile Autism in Monozygotic Twins.

    ERIC Educational Resources Information Center

    Eshkevari, H. Salimi

    1979-01-01

    The article presents a case history of a pair of male monozygotic twins who both had autism. During pregnancy the mother suffered from severe toxemia, and delivery occurred 2 months before term. (Author/DLS)

  4. Height discordance in monozygotic females is not attributable to discordant inactivation of X-linked stature determining genes.

    PubMed

    Healey, S C; Kirk, K M; Hyland, V J; Munns, C F; Henders, A K; Batch, J A; Heath, A C; Martin, N G; Glass, I A

    2001-02-01

    We tested the hypothesis that X-linked genes determining stature which are subject to skewed or non-random X-inactivation can account for discordance in height in monozygotic female twins. Height discordant female monozygotic adult twins (20 pairs) were identified from the Australian Twin Registry, employing the selection criteria of proven monozygosity and a measured height discordance of at least 5 cm. Differential X-inactivation was examined in genomic DNA extracted from peripheral lymphocytes by estimating differential methylation of alleles at the polymorphic CAG triplet repeat of the Androgen receptor gene (XAR). There were 17/20 MZ pairs heterozygous at this locus and informative for analysis. Of these, 10/17 both had random X-inactivation, 5/17 showed identical X-inactivation patterns of non random inactivation and 2/17 (12%) showed discordant X-inactivation. There was no relationship between inactivation patterns and self-report chorionicity. We conclude that non-random X-inactivation does not appear to be a major contributor to intra-pair height discordance in female MZ twins. PMID:11665320

  5. Nonshared Environmental Influences on Individual Differences in Early Behavioral Development: A Monozygotic Twin Differences Study.

    ERIC Educational Resources Information Center

    Asbury, Kathryn; Dunn, Judith F.; Pike, Alison; Plomin, Robert

    2003-01-01

    Examined nonshared environmental (NSE) influences on twin preschoolers' behavior independent of genetics. Found that within-pair parenting differences correlated with monozygotic differences in behavior. For the extreme 10 percent of the parenting-discordant and behavior-discordant distributions, average NSE effect size was 11 percent, suggesting…

  6. Monozygotic Twins with Asperger Syndrome: Differences in Behaviour Reflect Variations in Brain Structure and Function

    ERIC Educational Resources Information Center

    Belmonte, Matthew K.; Carper, Ruth A.

    2006-01-01

    A pair of monozygotic twins discordant for symptoms of Asperger syndrome was evaluated at the age of 13.45 years using psychometric, morphometric, behavioural, and functional imaging methods. The lower-functioning twin had a smaller brain overall, a smaller right cerebellum, and a disproportionately large left frontal lobe, and manifested almost…

  7. X-chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets

    SciTech Connect

    Bamforth, F.; Machin, G.; Innes, M.

    1996-01-22

    Patterns of X-chromosome inactivation in chorion, amnion, and cord from 79 pairs of twins were examined. Seven sets of triplets were included in the analysis, both as twin pairs and triplets. Twins were stratified as dizygotic (DZ), monozygotic (MZ), monochorionic, and dichorionic and were selected for birth weight discordance, discordance for congenital anomalies, twin-twin transfusion syndrome, and various patterns of vascular anastomosis. X-inactivation was predominantly symmetric. Chorion was the most likely tissue to show asymmetric X-inactivation and was found most frequently in MZ dichorionic twins. There was no correlation of X-inactivation pattern with the selected clinical criteria. This study does not confirm that asymmetric X-inactivation in embryonic tissues is a common phenomenon in female twins, including monozygotic twins. 27 refs., 2 figs., 9 tabs.

  8. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy.

    PubMed

    Ng, Dianna; Bouhlal, Yosr; Ursell, Philip C; Shieh, Joseph T C

    2013-06-01

    Occasionally "identical twins" are phenotypically different, raising the question of zygosity and the issue of genetic versus environmental influences during development. We recently noted monochorionic-monoamniotic twins, one of which had an isolated cardiac abnormality, noncompaction cardiomyopathy, a condition characterized by cardiac ventricular hypertrabeculation. We examined the prenatal course and subsequent pathologic correlation since ventricular morphogenesis may depend on early muscular contraction and blood flow. The monochorionic-monoamniotic female twin pair was initially identified since one fetus presented with increased nuchal translucency. Complete heart block was later identified in the fetus with nuchal translucency who did not survive after delivery. In contrast, the unaffected twin had normal cardiac studies both prenatally and postnatally. Pathologic analysis of the affected twin demonstrated noncompaction of the left ventricle with dysplasia of the aortic and pulmonary valves. Dissection of the cardiac conduction system disclosed atrioventricular bundle fibrosis. Maternal lupus studies, amniocentesis with karyotype, and studies for 22q11.2 were normal. To test for zygosity, we performed multiple STR marker analysis and found that all markers were shared even using nonblood tissues from the affected twin. These studies demonstrate that monozygotic twins that are monochorionic monoamniotic can be discordant for cardiac noncompaction. The results suggest further investigation into the potential roles of pathologic fibrosis, contractility, and blood flow in cardiac ventricle development. PMID:23636980

  9. Evolutionary trajectories of hyperdiploid ALL in monozygotic twins.

    PubMed

    Bateman, C M; Alpar, D; Ford, A M; Colman, S M; Wren, D; Morgan, M; Kearney, L; Greaves, M

    2015-01-01

    Identical twins have provided unique insights on timing or sequence of genetic events in acute lymphoblastic leukaemia (ALL). To date, this has mainly focused on ALL with MLL or ETV6-RUNX1 fusions, with hyperdiploid ALL remaining less well characterised. We examined three pairs of monozygotic twins, two concordant and one discordant for hyperdiploid ALL, for single-nucleotide polymorphism (SNP)-defined copy number alterations (CNAs), IGH/L plus TCR gene rearrangements and mutations in NRAS, KRAS, FLT3 and PTPN11 genes. We performed whole exome sequencing in one concordant twin pair. Potential 'driver' CNAs were low, 0-3 per case, and all were different within a pair. One patient had an NRAS mutation that was lacking from leukaemic cells of the twin sibling. By exome sequencing, there were 12 nonsynonymous mutations found in one twin and 5 in the other, one of which in SCL44A2 was shared or identical. Concordant pairs had some identical IGH/L and TCR rearrangements. In the twin pair with discordant hyperdiploid ALL, the healthy co-twin had persistent low level hyperdiploid CD19+ cells that lacked a CNA present in the ALL cells of her sibling. From these data, we propose that hyperdiploid ALL arises in a pre-B cell in utero and mutational changes necessary for clinical ALL accumulate subclonally and postnatally. PMID:24897505

  10. Creativity in Monozygotic and Dyzygotic Twins.

    ERIC Educational Resources Information Center

    Richmond, Bert O.

    The purpose of this study is to clarify further the relationships among creative, cognitive, and affective production of students. Thirteen pairs of twins, eight monozygotic (MZ), five dyzygotic (DZ), were administered the Torrance Tests of Creative Thinking, MMPI, and Revised Beta Examination. The F ratio for testing significance of within-set…

  11. Monozygotic twins with Crohn's disease and ulcerative colitis: a unique case report

    PubMed Central

    Breslin, N; Todd, A; Kilgallen, C; O'Morain, C

    1997-01-01

    Background—A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported. To date no twin pair has developed phenotypically discordant inflammatory bowel disease. This case report is the first documented occurrence of discordant inflammatory bowel disease occurring in monozygotic twins. 
Case report—Twenty two year old identical male twins presented within three months of each other with inflammatory bowel disease that proved to be discordant in overall disease type, disease distribution, clinical course, and histopathological findings. Twin 1 developed a severe pancolitis necessitating total colectomy while twin 2 developed a predominantly distal patchy colitis with frequent granulomas, controlled by aminosalicylates. Twin 1 was antineutrophil cytoplasmic antibody (ANCA) negative at the time of testing while twin 2 (Crohn's disease) was ANCA positive. Significantly, the twins possessed the HLA type DR3-DR52-DQ2 previously associated with extensive colitis. 
Conclusion—This case report confirms the important role played by genetic factors in the development of inflammatory bowel disease. It also highlights the crucial role of undetermined environmental agents in dictating disease expression and phenotype. 

 Keywords: monozygotic twins; ulcerative colitis; Crohn's disease; inflammatory bowel disease PMID:9391259

  12. X-inactivation patterns in monozygotic and dizygotic female twins

    SciTech Connect

    Goodship, J.; Carter, J.; Burn, J.

    1996-01-22

    We have tested the hypothesis that contrasting X-inactivation patterns could be a trigger for monozygotic twinning in females. X-inactivation patterns were studied in umbilical cord tissue in 43 monozygotic twin pairs and 24 dizygotic twin pairs. Very skewed or non-random X-inactivation patterns were observed in both twins in six of the monozygotic twin pairs and in one of the dizygotic twin pairs. Contrasting X-inactivation patterns occurred in only one of the six monozygotic twin pairs. This does not support the original hypothesis. There is a trend to extreme skewing of X-inactivation pattern occurring more frequently in monozygotic twins. 21 refs., 1 fig., 2 tabs.

  13. First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation.

    PubMed

    Riess, Angelika; Binder, Gerhard; Ziegler, Julian; Begemann, Matthias; Soellner, Lukas; Eggermann, Thomas

    2016-01-01

    Twin pairs with the imprinting disorder Silver-Russell syndrome (SRS) have rarely been reported. All six monozygotic (MZ) twin pairs described so far were clinically discordant. In two of the four SRS twin pairs with molecularly proven 11p15.5 epimutation, the healthy twin also showed the molecular alteration in blood cells, but not in the other tested tissues. The clinical discordance is a well-known but poorly understood observation because MZ twins derive from the same zygote. For the second 11p15.5-associated imprinting disorder, Beckwith-Wiedemann syndrome, a larger number of twins has been described, here the majority of pairs are MZ but clinically discordant as well. Interestingly, there is a considerable preponderance of females among the MZ twins with BWS, and a functional link between altered imprinting and X chromosome inactivation has been suggested. We now describe two further MZ SRS twins with H19/IGF2:IG-DMR hypomethylation, including the first clinically concordant pair. By summarizing the existing data, an excess of females in MZ twins with SRS is observed, thus confirming the hypothesis that X-chromosome inactivation might trigger the inaccurate methylation of imprinted loci at least in female twin conceptions. The occurrence of a MZ concordant SRS twin pair is exceptional. The detailed molecular characterization of both siblings of a twin pair enables a reliable diagnosis, furthermore it allows insights in the etiology of twinning in association with (aberrant) imprinting marking. PMID:26691664

  14. Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.

    PubMed

    McRae, Allan F; Visscher, Peter M; Montgomery, Grant W; Martin, Nicholas G

    2015-02-01

    Monozygotic (MZ) twins form an important system for the study of biological plasticity in humans. While MZ twins are generally considered to be genetically identical, a number of studies have emerged that have demonstrated copy-number differences within a twin pair, particularly in those discordant for disease. The rate of autosomal copy-number variation (CNV) discordance within MZ twin pairs was investigated using a population sample of 376 twin pairs genotyped on Illumina Human610-Quad arrays. After CNV calling using both QuantiSNP and PennCNV followed by manual annotation, only a single CNV difference was observed within the MZ twin pairs, being a 130 KB duplication of chromosome 5. Five other potential discordant CNV were called by the software, but excluded based on manual annotation of the regions. It is concluded that large CNV discordance is rare within MZ twin pairs, indicating that any CNV difference found within phenotypically discordant MZ twin pairs has a high probability of containing the causal gene(s) involved. PMID:25578400

  15. Phenotypic variability in monozygotic twins with neurofibromatosis 2.

    PubMed

    Baser, M E; Ragge, N K; Riccardi, V M; Janus, T; Gantz, B; Pulst, S M

    1996-09-01

    Mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene on chromosome 22q12 cause a clinically variable autosomal dominant syndrome characterized by bilateral vestibular schwannomas (VSs), other nervous system tumors, and early onset lenticular cataracts. We studied three pairs of monozygotic (MZ) twins with NF2, all with bilateral VSs, to separate genetic from nongenetic causes of clinical variability. The evaluation included gadolinium-enhanced high-resolution magnetic resonance imaging of the head and spine, neuro-ophthalmic examination with slit lamp, physical examination, and zygosity testing with microsatellite markers. Each MZ pair was concordant for general phenotypic subtype (mild or severe) and often for the affected organ systems. However, the MZ pairs were discordant for some features of disease presentation or progression. For example, all three pairs were discordant for presence or type of associated cranial tumors. We hypothesize that phenotypic differences between NF2 MZ twins are at least partly due to stochastic processes, such as the loss of the second NF2 allele or alleles of other genes. PMID:8870923

  16. Phenotypic variability in monozygotic twins with neurofibromatosis 2

    SciTech Connect

    Baser, M.E.; Ragge, N.K.; Riccardi, V.M.

    1996-09-06

    Mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene on chromosome 22q12 cause a clinically variable autosomal dominant syndrome characterized by bilateral vestibular schwannomas (VSs), other nervous system tumors, and early onset lenticular cataracts. We studied three pairs of monozygotic (MZ) twins with NF2, all with bilateral VSs, to separate genetic from nongenetic causes of clinical variability. The evaluation included gadolinium-enhanced high-resolution magnetic resonance imaging of the head and spine, neuro-ophthalmic examination with slit lamp, physical examination, and zygosity testing with microsatellite markers. Each MZ pair was concordant for general phenotypic subtype (mild or severe) and often for the affected organ systems. However, the MZ pairs were discordant for some features of disease presentation or progression. For example, all three pairs were discordant for presence or type of associated cranial tumors. We hypothesize that phenotypic differences between NF2 MZ twins are at least partly due to stochastic processes, such as the loss of the second NF2 allele or alleles of other genes. 42 refs., 1 tab.

  17. Monozygotic twins concordant for Rubinstein-Taybi syndrome.

    PubMed

    Ghanem, Q; Dawod, S

    1990-06-01

    Monozygotic twin sisters from Qatar, concordant for the Rubinstein-Taybi syndrome, are described. Skeletal anomalies not previously seen in this syndrome are described. The mode of inheritance is reviewed. PMID:2383929

  18. The Use of Discordant MZ Twins to Generate Hypotheses regarding Non-Shared Environmental Influence on Anxiety in Middle Childhood

    ERIC Educational Resources Information Center

    Asbury, Kathryn; Dunn, Judy; Plomin, Robert

    2006-01-01

    Non-shared environmental influence (NSE) has been found to account for around 50 percent of anxiety variance, but specific NSE factors have not been identified. Discordant monozygotic (MZ) twins can be used to generate relevant hypotheses because MZ discordance can be caused by NSE, but not by genes or shared environment. Of 1590 MZ pairs teacher…

  19. Adolescent Alcohol Abuse and Adverse Adult Outcomes: Evaluating Confounds with Drinking-Discordant Twins

    PubMed Central

    Rose, Richard J.; Winter, Torsten; Viken, Richard J.; Kaprio, Jaakko

    2014-01-01

    Background Adolescent alcohol abuse is associated with adverse outcomes in early adulthood, but differences in familial status and structure and household and community environments correlate with both adolescent drinking and adverse adult outcomes and may explain their association. We studied drinking-discordant twin pairs to evaluate such confounds to ask: Will between-family associations replicate in within-family comparisons? Methods With longitudinal data from > 3,000 Finnish twins, we associated drinking problems at age 18½ with 13 outcomes assessed at age 25; included were sustained substance abuse, poor health, physical symptoms, early coital debut, multiple sexual partners, life dissatisfaction, truncated education, and financial problems. We assessed associations among twins as individuals with linear regression adjusted for correlated observations; within-family analyses of discordant twin pairs followed, comparing paired means for adult outcomes among co-twins discordant for adolescent problem drinking. Defining discordance by extreme scores on self-reported problem drinking at age 18½ permitted parallel analyses of twins as individuals and discordant twin pairs. Alternate definitions of pair-wise discordance and difference score correlations across the entire twin sample yielded supplementary analyses. Results All individual associations were highly significant for all definitions of discordance we employed. Depending on definitions of discordance, 11 to 13 comparisons of all drinking-discordant twin pairs and 3 to 6 comparisons of discordant monozygotic twin pairs replicated between-family associations. For most outcomes, effect size attenuated from individual level analysis to that within discordant MZ twin pairs providing evidence of partial confounding in associations reported in earlier research. The exception was the General Health Questionnaire; at age 25, GHQ-12 had equivalent associations with age 18½ RAPI across all comparisons

  20. Proton MRS in twin pairs discordant for schizophrenia.

    PubMed

    Lutkenhoff, E S; van Erp, T G; Thomas, M A; Therman, S; Manninen, M; Huttunen, M O; Kaprio, J; Lönnqvist, J; O'Neill, J; Cannon, T D

    2010-03-01

    Proton magnetic resonance spectroscopy ((1)H MRS) neurometabolite abnormalities have been detected widely in subjects with and at risk for schizophrenia. We hypothesized that such abnormalities would be present both in patients with schizophrenia and in their unaffected twin siblings. We acquired magnetic resonance spectra (TR/TE=3000/30 ms) at voxels in the mesial prefrontal gray matter, left prefrontal white matter and left hippocampus in 14 twin pairs discordant for schizophrenia (2 monozygotic, 12 dizygotic), 13 healthy twin pairs (4 monozygotic, 9 dizygotic) and 1 additional unaffected co-twin of a schizophrenia proband. In the mesial prefrontal gray matter voxel, N-acetylaspartate (NAA), creatine+phosphocreatine (Cr), glycerophosphocholine+phosphocholine (Cho) and myo-inositol (mI) did not differ significantly between patients with schizophrenia, their unaffected co-twins or healthy controls. However, glutamate (Glu) was significantly lower in patients with schizophrenia (31%, percent difference) and unaffected co-twins (21%) than in healthy controls (collapsed across twin pairs). In the left hippocampus voxel, levels of NAA (23%), Cr (22%) and Cho (36%) were higher in schizophrenia patients compared with controls. Hippocampal NAA (25%), Cr (22%) and Cho (37%) were also significantly higher in patients than in their unaffected co-twins. Region-to-region differences in metabolite levels were also notable within all three diagnosis groups. These findings suggest that (1)H MRS neurometabolite abnormalities are present not only in patients with schizophrenia, but also in their unaffected co-twins. Thus, reduced mesial prefrontal cortical Glu and elevated hippocampal NAA, Cr and Cho may represent trait markers of schizophrenia risk and, when exacerbated, state markers of schizophrenia itself. PMID:18645571

  1. Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

    PubMed

    Segal, Nancy L

    2016-04-01

    The lives of the illustrious monozygotic (MZ) twins, Victor A. and Vincent L. McKusick, are described. Victor earned the distinction as the 'Father of Medical Genetics', while Vincent was a legendary Chief Justice of the Maine Supreme Court. This dual biographical account is followed by two timely reports of twinning rates, a study of MZ twin discordance for Russell-Silver Syndrome (RSS) and a study of twins' language skills. Twin stories in the news include babies born to identical twin couples, a case of switched identity, the death of Princess Ashraf (Twin) and a new mother of twins who is also Yahoo's CEO. PMID:26934824

  2. An Analysis of the Differences in Self-Concept of Male and Female Monozygotic Twins.

    ERIC Educational Resources Information Center

    Levine, Carolyn S.; And Others

    1979-01-01

    Results indicated that female monozygotic twins were more satisfied with their total self-concepts, including categories of identity, behavior, moral-ethical, personal, family, and number of deviant scores, when compared with male monozygotic twins. (Author)

  3. Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking.

    PubMed Central

    Tysk, C; Lindberg, E; Järnerot, G; Flodérus-Myrhed, B

    1988-01-01

    By running the Swedish twin registry containing about 25,000 pairs of twins of the same sex together with the central national diagnosis register of hospital inpatients, 80 twin pairs suffering from inflammatory bowel disease were found. In the ulcerative colitis group one of 16 monozygotic pairs was concordant for the disease, but all the other 20 pairs (dizygotic or unknown zygosity) were discordant. In the Crohn's disease group eight of 18 monozygotic pairs and one of 26 dizygotic pairs were concordant. The proband concordance rate among monozygotic twins was 6.3% for ulcerative colitis and 58.3% for Crohn's disease. The calculated heritability of liability based on monozygotic pairs was 0.53 and 1.0 respectively. Thus heredity as an aetiological factor is stronger in Crohn's disease than in ulcerative colitis. Monozygotic twins with Crohn's disease were more likely to be smokers than monozygotic twins with ulcerative colitis. Smoking did not explain the discordance of twin pairs with either ulcerative colitis, or Crohn's disease. The combination of identical heredity and similar smoking habit is not sufficient to cause disease. PMID:3396969

  4. Monozygotic VS. Dizygotic Twin Behavior in Artificial Mouse Twins

    PubMed Central

    Baunack, E.; Falk, U.; Gärtner, K.

    1984-01-01

    Adult inbred mice of an isogenic strain (AKR/NHan or C57BL/6J Han) differ in social (sexual and agonistic), emotional and psychomotoric behavior, depending on the kind of manipulation to which they were subjected at an early ontogenetic stage. Monozygotic twins (MZT) from eight-cell stages halved and transferred to uterine foster mothers were compared with dizygotic twins (DZT) from nonreduced but transferred eight-cell stages and with naturally born animals (NBA). Generally, early embryonic conditions predict the behavioral characteristics of the adult animals to a high degree. The MZT are motorially less active, less emotional, less aggressive and less socially interested than DZT and NBA. In tests of spontaneous social behavior (allogrooming, anogenital licking, mounting, fighting), as well as in tests for emotionality (open field: crossed fields and defecation), these behavioral patterns occurred less frequently in MZT than in DZT; the NBA were mostly intermediate. The copulatory pattern of male MZT differs from that of male DZT by a shortage of intromission latency and duration; furthermore, MZT pairs do not build up a steady rank order in competitive copulation tests, as opposed to DZT and NBA pairs. In a test for psychomotoric behavior (swimming), the MZT prefer "floating" as a survival strategy, wheras the DZT and NBA prefer "adult swimming." Therefore, it can be concluded that these behavioral differences may be caused by the particular psychosocial environment in which the twins grow up or may be due to early prenatal peculiarities, such as inadequate synchronization of the developmental status of uterus and embryo. PMID:6538528

  5. Monozygotic twins' colour-number association: a case study.

    PubMed

    Hancock, Peter

    2006-02-01

    A case study of a pair of monozygotic twins, both of whom show a strong and enduring colour-number association, is reported. The origin of the colours, in a jigsaw puzzle, is known. Neither reports conscious photisms typical of synaesthesia, but a Stroop task of naming the colours of digits shows an interference effect with incongruent colours. PMID:16683487

  6. College-age twins: university admission policies / twin research: birth weight and neuromotor performance; transfusion syndrome markers; vanishing twins and fetal sex determination; mz twin discordance for wilson's disease / media: big at birth; planned separation of conjoined twins; x factor twins; Cinema: the identical.

    PubMed

    Segal, Nancy L

    2014-12-01

    There is a lack of research findings addressing the unique college admissions issues faced by twins and other multiples. The advantages and disadvantage twins face, as reported by college administrators, twins and families are reviewed. Next, recent research addressing twins' birth weight and neuromotor performance, transfusion syndrome markers, the vanishing twin syndrome and monozygotic (MZ) twin discordance for Wilson's disease is described. News items concerning the birth of unusually large twins, the planned separation of conjoined twins, twin participants in the X Factor games and a film, The Identical, are also summarized. PMID:25331364

  7. Genetic Factors in the Ontogeny of Spoken Language: Evidence from Monozygotic and Dizygotic Twins.

    ERIC Educational Resources Information Center

    Locke, John L.; Mather, Patricia L.

    1989-01-01

    Analysis of speech samples from four-year-old monozygotic and dizygotic twins revealed that the monozygotic twins were significantly more likely to misproduce the same sound on an articulation test than were dizygotic twins. The dizygotic twins were no more likely to share errors than were children who were both genetically and environmentally…

  8. Drinking and mortality: long-term follow-up of drinking-discordant twin pairs

    PubMed Central

    Sipilä, Pyry; Rose, Richard J.; Kaprio, Jaakko

    2016-01-01

    Aims To determine if associations of alcohol consumption with all-cause mortality replicate in discordant monozygotic twin comparisons that control for familial and genetic confounds. Design A 30-year prospective follow-up. Setting Population-based older Finnish twin cohort. Participants Same-sex twins, aged 24–60 years at the end of 1981, without overt comorbidities, completed questionnaires in 1975 and 1981 with response rates of 89 and 84%. A total of 15 607 twins were available for mortality follow-up from the date of returned 1981 questionnaires to 31 December 2011; 14 787 twins with complete information were analysed. Measurements Self-reported monthly alcohol consumption, heavy drinking occasions (HDO) and alcohol-induced blackouts. Adjustments for age, gender, marital and smoking status, physical activity, obesity, education and social class. Findings Among twins as individuals, high levels of monthly alcohol consumption (≥ 259 g/month) associated with earlier mortality [hazard ratio (HR) = 1.63, 95% confidence interval (CI) = 1.47–1.81]. That association was replicated in comparisons of all informatively drinking-discordant twin pairs (HR = 1.91, 95% CI = 1.49–2.45) and within discordant monozygotic (MZ) twin pairs (HR = 2.24, 95% CI = 1.31–3.85), with comparable effect size. Smaller samples of MZ twins discordant for HDO and blackouts limited power; a significant association with mortality was found for multiple blackouts (HR = 2.82, 95% CI = 1.30–6.08), but not for HDO. Conclusions The associations of high levels of monthly alcohol consumption and alcohol-induced blackouts with increased all-cause mortality among Finnish twins cannot be explained by familial or genetic confounds; the explanation appears to be causal. PMID:26359785

  9. Identical twin discordance for the Brachmann-de Lange syndrome revisited

    SciTech Connect

    Carakushansky, G.; Goncalves, M.R.; Kahn, E.

    1996-06-14

    The only known twin pair evidently discordantly affected for the BDLS (Brachmann-de Lange syndrome) and who had been considered monozygotic (MZ) based on blood analysis remained a problem because biological zygosity determination needed further typing. In this report we review the clinical findings of this pair of twins at the age of 20. The use of DNA fingerprinting with three multilocus probes, F10, DNT24, and 33.6, allowed us to present evidence of monozygosity with a high degree of certainty. The significance of this confirmation of discordance in determining the cause of BDLS is discussed. Intensive comparative genomic studies of the discordant twin sisters may be useful to unravel the molecular genetics of this enigmatic pattern of malformation. 21 refs., 2 figs.

  10. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    PubMed

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies. PMID:22156648

  11. Family study of monozygotic twins affected by pemphigus vulgaris.

    PubMed

    Salathiel, Adriana Martinelli; Brochado, Maria José Franco; Kim, Olivia; Deghaide, Neifi Hassan Saloum; Donadi, Eduardo Antonio; Roselino, Ana Maria

    2016-07-01

    Rare are the family studies that include siblings affected by pemphigus vulgaris (PV) and in whom HLA class II alleles are related. HLA-DR and -DQ genotyping and profiling of antibodies against desmogleins (Dsg) 1 and Dsg3 were performed in ten members of a family including monozygotic twins affected by PV. The twin sisters were heterozygotes; they presented the haplotypes most commonly associated with increased susceptibility to PV (DRB1∗04:02-DQA1∗03:01-DQB1∗03:02 and DRB1∗14:04-DQA1∗01:01-DQB1∗05:03). Their parents and five siblings had only one or none of these two haplotypes in combination with the alleles or haplotypes associated with resistance to PV (DRB1∗07:01-DQA1∗02:01-DQB1∗02:02 and DRB1∗13:01-DQA1∗01:03-DQB1∗06:03). Only the monozygotic twins presented IgG antibodies against both Dsg1 and Dsg3. According to our knowledge based on a review of published literature on the topic, this is the first report of PV affecting monozygotic twins. PMID:27177496

  12. Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome.

    PubMed

    Bussmann, Neidin; Cunningham, Katie; Green, Andrew; Ryan, C Anthony

    2015-01-01

    Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1 month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18. Establishing such diagnoses in a timely manner is imperative for the child, parents and clinicians. The clinical course of these twins reflects the unpredictable prognosis associated with the diagnosis of mosaic trisomy 18, and emphasises the challenges that can be encountered when counselling parents. PMID:26561224

  13. Bidirectional Influences between Maternal Parenting and Children's Peer Problems: A Longitudinal Monozygotic Twin Difference Study

    ERIC Educational Resources Information Center

    Yamagata, Shinji; Takahashi, Yusuke; Ozaki, Koken; Fujisawa, Keiko K.; Nonaka, Koichi; Ando, Juko

    2013-01-01

    This twin study examined the bidirectional relationship between maternal parenting behaviors and children's peer problems that were not confounded by genetic and family environmental factors. Mothers of 259 monozygotic twin pairs reported parenting behaviors and peer problems when twins were 42 and 48 months. Path analyses on monozygotic twin…

  14. Monozygotic twins of different apparent sex

    SciTech Connect

    Yokota, Yukifumi; Fujino, Nobuyuki; Sato, Yoshiaki; Matsunobu, Akira; Tadokoro, Mamoru; Akane, Atsushi; Matsuura, Nobuo; Maeda, Tohru; Nakahori, Yutaka; Nakagome, Yasuo

    1994-10-15

    We report on twins of unlike sex who shared a 45,X/46,X, +mar karyotype. The mar chromosome was found to be Yq- by DNA analysis. Marker studies, including 8 VNTR loci, yielded a probability of monozygosity of 0.99999996. 16 refs., 1 fig., 1 tab.

  15. Influence of Cardiorespiratory Fitness on PPARG mRNA Expression Using Monozygotic Twin Case Control

    PubMed Central

    Queiroga, Marcos Roberto; Barbieri, Ricardo Augusto; Ferreira, Sandra Aires; Luchessi, André Ducati; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki; Kokubun, Eduardo

    2015-01-01

    The influence of cardiorespiratory fitness (VO2max) on anthropometric variables and PPARG mRNA expression was investigated. Monozygotic twin pairs aged 11–18 years were grouped into discordant (D) and concordant (C) high and low VO2max groups. VO2max was determined by progressive maximal exercise test on treadmill with gas exchange analysis. Body mass (BM), BMI, waist circumference (WC), triceps (TR), and subscapular (SB) skinfold thicknesses were measured. Twins from the discordant group had differences in VO2max values (D-high = 45.9 ± 10.0 versus D-low = 32.4 ± 10.6 mL·kg−1·min−1, P = 0.025), while no differences were found in the concordant group (C-high = 42.4 ± 9.2 versus C-low = 38.8 ± 9.8 mL·kg−1·min−1, P = 0.952). In discordant group, VO2max was negatively correlated with TR + SB (r = −0.540, P = 0.021) and positively correlated with PPARG expression in leukocytes (r = 0.952, P = 0.001). Moreover, PPARG expression was directly correlated with BM (r = 0.714, P = 0.047) and height (r = 0.762, P = 0.028). In concordant twins, VO2max was inversely correlated with BM (r = −0.290, P = 0.027), BMI (r = −0.472, P = 0.001), WC (r = −0.426, P = 0.001), and TR + SB (r = −0.739, P = 0.001). Twins D-high had 1.78-fold greater PPARG expression when compared with twins D-low (P = 0.048). In conclusion, the cardiorespiratory fitness may modulate PPARG expression in childhood and adolescence, independently of the genetic background. PMID:25879043

  16. Synesthesia in twins: incomplete concordance in monozygotes suggests extragenic factors.

    PubMed

    Bosley, Hannah G; Eagleman, David M

    2015-06-01

    Colored-sequence synesthesia (CSS) is a neurological condition in which sequential stimuli such as letters, numbers, or days of the week trigger simultaneous, involuntary color perception. Although the condition appears to run in families and several studies have sought a genetic link, the genetic contribution to synesthesia remains unclear. We conducted the first comparative twin study of CSS and found that CSS has a pairwise concordance of 73.9% in monozygotic twins, and a pairwise concordance of 36.4% in dizygotic twins. In line with previous studies, our results suggest a heritable element of synesthesia. However, consonant with the findings of previous single-pair case studies, our large sample size verifies that synesthesia is not completely conferred by genetics; if it were, monozygotic twins should have 100% concordance. These findings implicate a genetic mechanism of CSS that may work differently than previously thought: collectively, our data suggest that synesthesia is a heritable condition with incomplete penetrance that is substantially influenced by epigenetic and environmental factors. PMID:25704836

  17. Twins discordant for myositis and systemic lupus erythematosus show markedly enriched autoantibodies in the affected twin supporting environmental influences in pathogenesis

    PubMed Central

    2014-01-01

    Background Studies of twin pairs discordant for autoimmune conditions provide a unique opportunity to explore contributing factors triggered by complex gene-environment interactions. Methods In this cross-sectional study, thirty-one monozygotic or dizygotic twin pairs discordant for myositis or systemic lupus erythematosus (SLE), along with matched healthy controls were evaluated for antibodies against a panel of 21 autoantigens. Results Autoantibody profiling revealed that 42% of the affected twins showed significant seropositivity against autoantigens in the panel. In many of these affected twins, but none of healthy controls, there were high levels of autoantibodies detected against two or more autoantigens commonly seen in systemic autoimmune diseases including Ro52, Ro60, RNP-70 K and/or RNP-A. In contrast, only 10% (3/31) of the unaffected twins showed seropositivity and these immunoreactivities were against single autoantigens not seen in systemic autoimmune diseases. While no significant differences in autoantibodies were detected between the affected or unaffected twins against thyroid peroxidase, transglutaminase and several cytokines, 23% of the affected twins with myositis showed autoantibodies against the gastric ATPase. Analysis of the monozygotic twins separately also revealed a higher frequencies of autoantibodies in the affected twins compared to the unaffected twins (P = 0.046). Lastly, clinical analysis of both the affected monozygotic and dizygotic twins revealed that the autoantibody seropositive affected twins had a greater global disease activity score compared to seronegative affected twins (P = 0.019). Conclusion The findings of significantly more autoantibodies in the affected twins with myositis and SLE compared to the unaffected twins are consistent with potential non-genetic factors playing a role in autoantibody production and pathogenesis of these autoimmune disorders. PMID:24602337

  18. DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

    PubMed Central

    Sailani, M. Reza; Santoni, Federico A.; Letourneau, Audrey; Borel, Christelle; Makrythanasis, Periklis; Hibaoui, Youssef; Popadin, Konstantin; Bonilla, Ximena; Guipponi, Michel; Gehrig, Corinne; Vannier, Anne; Carre-Pigeon, Frederique; Feki, Anis; Nizetic, Dean; Antonarakis, Stylianos E.

    2015-01-01

    DNA methylation is essential in mammalian development. We have hypothesized that methylation differences induced by trisomy 21 (T21) contribute to the phenotypic characteristics and heterogeneity in Down syndrome (DS). In order to determine the methylation differences in T21 without interference of the interindividual genomic variation, we have used fetal skin fibroblasts from monozygotic (MZ) twins discordant for T21. We also used skin fibroblasts from MZ twins concordant for T21, normal MZ twins without T21, and unrelated normal and T21 individuals. Reduced Representation Bisulfite Sequencing (RRBS) revealed 35 differentially methylated promoter regions (DMRs) (Absolute methylation differences = 25%, FDR < 0.001) in MZ twins discordant for T21 that have also been observed in comparison between unrelated normal and T21 individuals. The identified DMRs are enriched for genes involved in embryonic organ morphogenesis (FDR = 1.60 e -03) and include genes of the HOXB and HOXD clusters. These DMRs are maintained in iPS cells generated from this twin pair and are correlated with the gene expression changes. We have also observed an increase in DNA methylation level in the T21 methylome compared to the normal euploid methylome. This observation is concordant with the up regulation of DNA methyltransferase enzymes (DNMT3B and DNMT3L) and down regulation of DNA demethylation enzymes (TET2 and TET3) observed in the iPSC of the T21 versus normal twin. Altogether, the results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes. PMID:26317209

  19. DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

    PubMed

    Sailani, M Reza; Santoni, Federico A; Letourneau, Audrey; Borel, Christelle; Makrythanasis, Periklis; Hibaoui, Youssef; Popadin, Konstantin; Bonilla, Ximena; Guipponi, Michel; Gehrig, Corinne; Vannier, Anne; Carre-Pigeon, Frederique; Feki, Anis; Nizetic, Dean; Antonarakis, Stylianos E

    2015-01-01

    DNA methylation is essential in mammalian development. We have hypothesized that methylation differences induced by trisomy 21 (T21) contribute to the phenotypic characteristics and heterogeneity in Down syndrome (DS). In order to determine the methylation differences in T21 without interference of the interindividual genomic variation, we have used fetal skin fibroblasts from monozygotic (MZ) twins discordant for T21. We also used skin fibroblasts from MZ twins concordant for T21, normal MZ twins without T21, and unrelated normal and T21 individuals. Reduced Representation Bisulfite Sequencing (RRBS) revealed 35 differentially methylated promoter regions (DMRs) (Absolute methylation differences = 25%, FDR < 0.001) in MZ twins discordant for T21 that have also been observed in comparison between unrelated normal and T21 individuals. The identified DMRs are enriched for genes involved in embryonic organ morphogenesis (FDR = 1.60 e -03) and include genes of the HOXB and HOXD clusters. These DMRs are maintained in iPS cells generated from this twin pair and are correlated with the gene expression changes. We have also observed an increase in DNA methylation level in the T21 methylome compared to the normal euploid methylome. This observation is concordant with the up regulation of DNA methyltransferase enzymes (DNMT3B and DNMT3L) and down regulation of DNA demethylation enzymes (TET2 and TET3) observed in the iPSC of the T21 versus normal twin. Altogether, the results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes. PMID:26317209

  20. Heritability of thyroid peroxidase autoantibody levels in type 1 diabetes: evidence from discordant twin pairs

    PubMed Central

    Wang, Bin; Hawa, Mohammed I.; Rijsdijk, Frühling V.; Fain, Pamela R.; Paschou, Stavroula A.; Boehm, Bernhard O.; Steck, Andrea K.; Snieder, Harold

    2016-01-01

    Aims/hypothesis The discordance status of (autoimmune) type 1 diabetes within monozygotic twin pairs points to the importance of environmental factors. The aim of this study was to investigate whether the environmental events causing type 1 diabetes influence thyroid autoimmunity. Methods Monozygotic and dizygotic twins discordant for type 1 diabetes from the UK and USA were tested for thyroid peroxidase autoantibodies (TPOA) by radioimmunoassay. Using quantitative genetic model fitting of a liability-threshold model we estimated the contribution of genetic (heritability) and environmental factors to TPOA. Results TPOA positivity was higher in females than in males in both cohorts and was associated with later age at diagnosis in the UK and combined cohorts (p<0.01). TPOA did not specifically segregate with type 1 diabetes in the twin pairs (p>0.2 in all groups). The best-fitting models showed heritability (95% CI) estimates for TPOA of 63% (37%, 80%) for the UK and 80% (51%, 92%) for US twins, while the best-fitting meta-analysis model of the two twin cohorts combined included additive genetic and unique environmental factors with a heritability estimate of 69% (50%, 82%). Conclusions/interpretation Risk of thyroid autoimmunity, defined by TPOA, in the context of autoimmune diabetes is, substantially, genetically determined in discordant twin pairs. Environmental factors leading to type 1 diabetes were not the same as those involved with thyroid autoimmunity. It follows that it is as important to investigate for thyroid autoimmunity in relatives of type 1 diabetes patients as it is in the patients themselves. PMID:26070305

  1. Intersection of genetics and epigenetics in monozygotic twin genomes.

    PubMed

    Kim, Kwoneel; Lee, Kibaick; Bang, Hyoeun; Kim, Jeong Yeon; Choi, Jung Kyoon

    2016-06-01

    As a final function of various epigenetic mechanisms, chromatin regulation is a transcription control process that especially demonstrates active interaction with genetic elements. Thus, chromatin structure has become a principal focus in recent genomics researches that strive to characterize regulatory functions of DNA variants related to diseases or other traits. Although researchers have been focusing on DNA methylation when studying monozygotic (MZ) twins, a great model in epigenetics research, interactions between genetics and epigenetics in chromatin level are expected to be an imperative research trend in the future. In this review, we discuss how the genome, epigenome, and transcriptome of MZ twins can be studied in an integrative manner from this perspective. PMID:26548893

  2. Investigating Unique Environmental Influences of Parenting Practices on Youth Anxiety: A Monozygotic Twin Differences Study

    ERIC Educational Resources Information Center

    Chen, Jie; Yu, Jing; Zhang, Jianxin

    2016-01-01

    The associations between parenting practices and adolescent anxiety symptoms were examined in both individual and monozygotic (MZ) twin differences levels. Participants were 804 pairs of Chinese MZ adolescent twins aged 10-18 years (M = 13.57, SD = 2.67, 52% females). Twins' anxiety symptoms were assessed by self- and parent-reports. Twins also…

  3. Similarity of Monozygotic and Dizygotic Twins in Level and Lability of Subclinically Depressed Mood.

    ERIC Educational Resources Information Center

    Wierzbicki, Michael

    1986-01-01

    Ninety-two adult twin-pairs were recruited. Twin zygosity was determined by self-report inventory. Monozygotic twins resembled one another more than dizygotic twins in most measures of both level and lability of mood, which provides modest evidence for a genetic influence on subclinical levels of depression. (Author/ABB)

  4. An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins.

    PubMed

    Yuan, Wei; Xia, Yudong; Bell, Christopher G; Yet, Idil; Ferreira, Teresa; Ward, Kirsten J; Gao, Fei; Loomis, A Katrina; Hyde, Craig L; Wu, Honglong; Lu, Hanlin; Liu, Yuan; Small, Kerrin S; Viñuela, Ana; Morris, Andrew P; Berdasco, María; Esteller, Manel; Brosnan, M Julia; Deloukas, Panos; McCarthy, Mark I; John, Sally L; Bell, Jordana T; Wang, Jun; Spector, Tim D

    2014-01-01

    DNA methylation has a great potential for understanding the aetiology of common complex traits such as Type 2 diabetes (T2D). Here we perform genome-wide methylated DNA immunoprecipitation sequencing (MeDIP-seq) in whole-blood-derived DNA from 27 monozygotic twin pairs and follow up results with replication and integrated omics analyses. We identify predominately hypermethylated T2D-related differentially methylated regions (DMRs) and replicate the top signals in 42 unrelated T2D cases and 221 controls. The strongest signal is in the promoter of the MALT1 gene, involved in insulin and glycaemic pathways, and related to taurocholate levels in blood. Integrating the DNA methylome findings with T2D GWAS meta-analysis results reveals a strong enrichment for DMRs in T2D-susceptibility loci. We also detect signals specific to T2D-discordant twins in the GPR61 and PRKCB genes. These replicated T2D associations reflect both likely causal and consequential pathways of the disease. The analysis indicates how an integrated genomics and epigenomics approach, utilizing an MZ twin design, can provide pathogenic insights as well as potential drug targets and biomarkers for T2D and other complex traits. PMID:25502755

  5. An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins

    PubMed Central

    Yuan, Wei; Xia, Yudong; Bell, Christopher G.; Yet, Idil; Ferreira, Teresa; Ward, Kirsten J.; Gao, Fei; Loomis, A. Katrina; Hyde, Craig L.; Wu, Honglong; Lu, Hanlin; Liu, Yuan; Small, Kerrin S.; Viñuela, Ana; Morris, Andrew P.; Berdasco, María; Esteller, Manel; Brosnan, M. Julia; Deloukas, Panos; McCarthy, Mark I.; John, Sally L.; Bell, Jordana T.; Wang, Jun; Spector, Tim D.

    2014-01-01

    DNA methylation has a great potential for understanding the aetiology of common complex traits such as Type 2 diabetes (T2D). Here we perform genome-wide methylated DNA immunoprecipitation sequencing (MeDIP-seq) in whole-blood-derived DNA from 27 monozygotic twin pairs and follow up results with replication and integrated omics analyses. We identify predominately hypermethylated T2D-related differentially methylated regions (DMRs) and replicate the top signals in 42 unrelated T2D cases and 221 controls. The strongest signal is in the promoter of the MALT1 gene, involved in insulin and glycaemic pathways, and related to taurocholate levels in blood. Integrating the DNA methylome findings with T2D GWAS meta-analysis results reveals a strong enrichment for DMRs in T2D-susceptibility loci. We also detect signals specific to T2D-discordant twins in the GPR61 and PRKCB genes. These replicated T2D associations reflect both likely causal and consequential pathways of the disease. The analysis indicates how an integrated genomics and epigenomics approach, utilizing an MZ twin design, can provide pathogenic insights as well as potential drug targets and biomarkers for T2D and other complex traits. PMID:25502755

  6. Monozygotic male twins concordant for Beckwith-Wiedemann syndrome

    SciTech Connect

    Clemens, M.; McPherson, E.; Sherer, C. |

    1994-09-01

    The Beckwith-Wiedemann syndrome (BWS) is a multiple congenital anomaly syndrome characterized by macrosomia, macro glossia, visceromegaly, characteristic facies, and in some cases omphalocele, hypoglycemia, hemihypertrophy, and risk of embryonal tumors. Most cases occur sporadically in chromosomally normal individuals, but a few BWS patients have anomalies of 11p and others have evidence of microduplications or paternal isodisomy in this region. In some families with autosomal dominant transmission, BWS maps to 11p15.5, but the mechanism of transmission is not fully understood. BWS has been reported in 11 sets of MZ twins, including 10 female pairs (9 discordant and 1 partially concordant) and one male pair concordant for both BWS & dup 15q11.2-q13. We report a pair of premature male MZ twins with macroglossia, postnatal overgrowth, characteristic BWS facies, and mild developmental delay. One twin had hypoglycemia, but neither had omphalocele or hemihypertrophy and serial abdominal ultrasounds have been normal. DNA fingerprinting confirmed monozygosity. Chromosome studies showed a marker 11p14.2 in one twin only, and molecular genetic studies of the 11p15.5 region showed no evidence of duplication or isodisomy in either twin.

  7. A Monozygotic Twin Difference Study of Friends' Aggression and Children's Adjustment Problems

    ERIC Educational Resources Information Center

    Vitaro, Frank; Brendgen, Mara; Boivin, Michel; Cantin, Stephane; Dionne, Ginette; Tremblay, Richard E.; Girard, Alain; Perusse, Daniel

    2011-01-01

    This study used the monozygotic (MZ) twin difference method to examine whether differences in friends' aggression increased the differences in MZ twins' aggression and depressive symptoms from kindergarten to Grade 1 and whether perceived victimization by the friend played a mediating role in this context. Participants were 223 MZ twin pairs.…

  8. The first case of genetically confirmed monozygotic twinning in the dog.

    PubMed

    Joonè, C J; De Cramer, Kgm; Nöthling, J O

    2016-10-01

    Monozygotic twinning has not previously been genetically confirmed in the dog. This case report describes the finding of two viable male monozygotic foetuses within one placental site during caesarean section. Their umbilical cords attached to a single placenta. Genetic profiling using a total of 38 microsatellite markers, as well as amelogenin and SRY for sex determination, revealed identical DNA profiles, whether derived from blood or tissue (buccal swabs) samples. To the best of our knowledge, this is the first report of monozygotic twinning in the dog confirmed using DNA profiling. PMID:27545903

  9. Gene expression differences in skin fibroblasts in identical twins discordant for type 1 diabetes.

    PubMed

    Caramori, M Luiza; Kim, Youngki; Moore, Jason H; Rich, Stephen S; Mychaleckyj, Josyf C; Kikyo, Nobuaki; Mauer, Michael

    2012-03-01

    Clinical studies suggest metabolic memory to hyperglycemia. We tested whether diabetes leads to persistent systematic in vitro gene expression alterations in patients with type 1 diabetes (T1D) compared with their monozygotic, nondiabetic twins. Microarray gene expression was determined in skin fibroblasts (SFs) of five twin pairs cultured in high glucose (HG) for ∼6 weeks. The Exploratory Visual Analysis System tested group differences in gene expression levels within KEGG (Kyoto Encyclopedia of Genes and Genomes) pathways. An overabundance of differentially expressed genes was found in eight pathways: arachidonic acid metabolism (P = 0.003849), transforming growth factor-β signaling (P = 0.009167), glutathione metabolism (P = 0.01281), glycosylphosphatidylinositol anchor (P = 0.01949), adherens junction (P = 0.03134), dorsal-ventral axis formation (P = 0.03695), proteasome (P = 0.04327), and complement and coagulation cascade (P = 0.04666). Several genes involved in epigenetic mechanisms were also differentially expressed. All differentially expressed pathways and all the epigenetically relevant differentially expressed genes have previously been related to HG in vitro or to diabetes and its complications in animal and human studies. However, this is the first in vitro study demonstrating diabetes-relevant gene expression differences between T1D-discordant identical twins. These SF gene expression differences, persistent despite the HG in vitro conditions, likely reflect "metabolic memory", and discordant identical twins thus represent an excellent model for studying diabetic epigenetic processes in humans. PMID:22315306

  10. Impacted Primary Tooth and Tooth Agenesis: A Case Report of Monozygotic Twins

    PubMed Central

    Zengin, A. Zeynep; Sumer, A. Pinar; Karaarslan, Emine

    2008-01-01

    In the present report, a case of 19 year-old monozygotic twin brothers with similar tooth agenesis and impacted primary teeth is presented. Both twins (HDH, DHH) had agenesis of ten and eleven teeth (respectively), third molars excluded, consistent with oligodontia and both had four impacted primary teeth and the permanent successors of all these primary teeth were congenitally missing. The occurrence of similarly located tooth agenesis and primary impacted teeth in monozygotic twins may suggest the influence of genetic factors in their etiology. In addition, primary tooth impaction may be related to congenitally missing tooth. PMID:19212538

  11. Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility

    PubMed Central

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3–4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction. PMID:26029003

  12. Rare case of monozygotic twins diagnosed with klinefelter syndrome during evaluation for infertility.

    PubMed

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3-4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction. PMID:26029003

  13. Monochorionic dizygous twins presenting with blood chimerism and discordant sex.

    PubMed

    Smeets, Dominique; van Vugt, John M G; Gomes, Ingrid; van den Heuvel, Simone; van Heijst, Arno; Reuss, Annette; Claahsen-van der Grinten, Hedi L

    2013-08-01

    Monochorionic dizygous twins are probably more frequent than considered previously as many cases remain unrecognized, especially when the children have the same sex. Here we present a pair of dizygous, sex-discordant monochorionic twins who were conceived after artificial insemination. Histological examination of the placenta and extensive genetic studies of the healthy boy and girl clearly proved that they indeed were monochorionic dizygous twins with a fully joined blood circulation. We conclude that when counseling parents expecting monochorionic twins of discordant sex, not only a disorder of sexual differentiation in one of the twins should be addressed but also the possibility of dizygosity with a completely normal (sexual) development of both children. PMID:23769301

  14. De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems

    PubMed Central

    Ehli, Erik A; Abdellaoui, Abdel; Hu, Yueshan; Hottenga, Jouke Jan; Kattenberg, Mathijs; van Beijsterveldt, Toos; Bartels, Meike; Althoff, Robert R; Xiao, Xiangjun; Scheet, Paul; de Geus, Eco J; Hudziak, James J; Boomsma, Dorret I; Davies, Gareth E

    2012-01-01

    Copy number variations (CNVs) have been reported to be causal suspects in a variety of psychopathologic traits. We investigate whether de novo and/or inherited CNVs contribute to the risk for Attention Problems (APs) in children. Based on longitudinal phenotyping, 50 concordant and discordant monozygotic (MZ) twin pairs were selected from a sample of ∼3200 MZ pairs. Two types of de novo CNVs were investigated: (1) CNVs shared by both MZ twins, but not inherited (pre-twinning de novo CNVs), which were detected by comparing copy number (CN) calls between parents and twins and (2) CNVs not shared by co-twins (post-twinning de novo CNVs), which were investigated by comparing the CN calls within MZ pairs. The association between the overall CNV burden and AP was also investigated for CNVs genome-wide, CNVs within genes and CNVs outside of genes. Two de novo CNVs were identified and validated using quantitative PCR: a pre-twinning de novo duplication in a concordant-unaffected twin pair and a post-twinning deletion in the higher scoring twin from a concordant-affected pair. For the overall CNV burden analyses, affected individuals had significantly larger CNVs that overlapped with genes than unaffected individuals (P=0.008). This study suggests that the presence of larger CNVs may increase the risk for AP, because they are more likely to affect genes, and confirms that MZ twins are not always genetically identical. PMID:22490988

  15. Labeling of Chromosomes in Cell Development and the Appearance of Monozygotic Twins

    PubMed Central

    Jim, Carol; Berkovich, Simon

    2015-01-01

    Understanding the mechanism behind the structure of the internal cellular clock can lead to advances in the knowledge of origins of pairs of monozygotic twins and higher order multiples as well as other biological phenomena. To gain insight into this mechanism, we analyze possible cell labeling schemes that model an organism's development. Our findings lead us to predict that monozygotic quadruplets are not quadruplets in the traditional sense but rather two pairs of monozygotic twins where the pairs slightly differ—a situation we coin quadruplet twins. From the considered model, the probability of monozygotic twins is found to be (1/2)K, and we discover that the probability of monozygotic quadruplets, or triplets as in the case of the death of an embryo, is (1/8)K, where K is a species-specific integer representing the number of pairs of homologous chromosomes. The parameter K may determine cancerization with a probability threshold that is approximately inversely proportional to the Hayflick limit. Exposure to some cancerization factors such as small levels of ionizing radiation and chemical pollution may not produce cancer. PMID:26185760

  16. Labeling of Chromosomes in Cell Development and the Appearance of Monozygotic Twins.

    PubMed

    Jim, Carol; Berkovich, Simon

    2015-01-01

    Understanding the mechanism behind the structure of the internal cellular clock can lead to advances in the knowledge of origins of pairs of monozygotic twins and higher order multiples as well as other biological phenomena. To gain insight into this mechanism, we analyze possible cell labeling schemes that model an organism's development. Our findings lead us to predict that monozygotic quadruplets are not quadruplets in the traditional sense but rather two pairs of monozygotic twins where the pairs slightly differ-a situation we coin quadruplet twins. From the considered model, the probability of monozygotic twins is found to be (1/2) (K) , and we discover that the probability of monozygotic quadruplets, or triplets as in the case of the death of an embryo, is (1/8) (K) , where K is a species-specific integer representing the number of pairs of homologous chromosomes. The parameter K may determine cancerization with a probability threshold that is approximately inversely proportional to the Hayflick limit. Exposure to some cancerization factors such as small levels of ionizing radiation and chemical pollution may not produce cancer. PMID:26185760

  17. Dietary Intake at 9 Years and Subsequent Body Mass Index in Adolescent Boys and Girls: A Study of Monozygotic Twin Pairs.

    PubMed

    Dubois, Lise; Diasparra, Maikol; Bogl, Leonie-Helen; Fontaine-Bisson, Bénédicte; Bédard, Brigitte; Tremblay, Richard E; Kaprio, Jaakko; Boivin, Michel

    2016-02-01

    There is a lack of evidence pointing to specific dietary elements related to weight gain and obesity prevention in childhood and adulthood. Dietary intake and obesity are both inherited and culturally transmitted, but most prospective studies on the association between diet and weight status do not take genetics into consideration. The objective of this study was to document the association between dietary intake at 9 years and subsequent Body Mass Index (BMI) in adolescent monozygotic boy and girl twin pairs. This research used data from 152 twin pairs. Dietary data were collected from two 24-hour-recall interviews with a parent and the child aged 9 years. Height and weight were obtained when the twins were aged 9, 12, 13, and 14 years. Intrapair variability analysis was performed to identify dietary elements related to BMI changes in subsequent years. BMI-discordant monozygotic twin pairs were also identified to analyze the dietary constituents that may have generated the discordance. After eliminating potential confounding genetic factors, pre-adolescent boys who ate fewer grain products and fruit and consumed more high-fat meat and milk had higher BMIs during adolescence; pre-adolescent girls who consumed more grain products and high-fat meat and milk had higher BMIs during adolescence. Energy intake (EI) at 9 years was not related to BMI in subsequent years. Our study suggests that messages and interventions directed at obesity prevention could take advantage of sex-specific designs and' eventually' genetic information. PMID:26810866

  18. Two pairs of monozygotic twins with concordant acute lymphoblastic leukemia (ALL): case report.

    PubMed

    Li, Xue; Sun, Nianzheng; Huang, Xiaoyang; Ju, Xiuli

    2014-07-01

    The occurrence of leukemia in twins is rare but has a crucial implication in the genetic research of leukemia. This report presents 2 pairs of monozygotic twins with precursor B-cell acute lymphoblastic leukemia. Mixed lineage leukemia (MLL)-AF4 fusion genes were found in the twin sisters. This study is the first to report on infant ALL harboring the 46,XY, -4, +10, -13, del(14)(q24), -15, +2mar[4 cells] complex chromosome abnormality. Our report showed that the unified cytogenetic features in monozygotic twins and MLL-AF4 fusion gene may be necessary but insufficient for the clinical development and prognosis of identical twins with leukemia. PMID:24807006

  19. Postmenopausal hormone replacement therapy modifies skeletal muscle composition and function: a study with monozygotic twin pairs.

    PubMed

    Ronkainen, Paula H A; Kovanen, Vuokko; Alén, Markku; Pöllänen, Eija; Palonen, Eeva-Maija; Ankarberg-Lindgren, Carina; Hämäläinen, Esa; Turpeinen, Ursula; Kujala, Urho M; Puolakka, Jukka; Kaprio, Jaakko; Sipilä, Sarianna

    2009-07-01

    We investigated whether long-term hormone replacement therapy (HRT) is associated with mobility and lower limb muscle performance and composition in postmenopausal women. Fifteen 54- to 62-yr-old monozygotic female twin pairs discordant for HRT were recruited from the Finnish Twin Cohort. Habitual (HWS) and maximal (MWS) walking speeds over 10 m, thigh muscle composition, lower body muscle power assessed as vertical jumping height, and maximal isometric hand grip and knee extension strengths were measured. Intrapair differences (IPD%) with 95% confidence intervals (CI) were calculated. The mean duration of HRT use was 6.9 +/- 4.1 yr. MWS was on average 7% (0.9 to 13.1%, P = 0.019) and muscle power 16% (-0.8 to 32.8%, P = 0.023) greater in HRT users than in their cotwins. Thigh muscle cross-sectional area tended to be larger (IPD% = 6%, 95% CI: -0.07 to 12.1%, P = 0.065), relative muscle area greater (IPD% = 8%, CI: 0.8 to 15.0%, P = 0.047), and relative fat area smaller (IPD% = -5%, CI: -11.3 to 1.2%, P = 0.047) in HRT users than in their sisters. There were no significant differences in maximal isometric strengths or HWS between users and nonusers. Subgroup analyses revealed that estrogen-containing therapies (11 pairs) significantly decreased total body and thigh fat content, whereas tibolone (4 pairs) tended to increase muscle cross-sectional area. This study showed that long-term HRT was associated with better mobility, greater muscle power, and favorable body and muscle composition among 54- to 62-yr-old women. The results indicate that HRT is a potential agent in preventing muscle weakness and mobility limitation in older women. PMID:19246654

  20. Discordant cerebral lateralisation for verbal fluency is not an artefact of attention: evidence from MzHd twins.

    PubMed

    Gurd, Jennifer M; Cowell, Patricia E

    2015-01-01

    The current study investigated how the brain structure-function relationships between covert and overt verbal fluency in monozygotic handedness discordant (MzHd) twins relates to broader attentional measures. Evidence presented here shows that the structure-function correlation demonstrated between functional cerebral lateralisation and corpus callosum widths 22-39, contiguous with Broca's area and the middle frontal gyri (Gurd et al. in Brain Struct Funct 218:491-509, 2013), is not an artefact of attention. Twenty-five pairs of female MzHd twins performed a verbal switching task titrated for number of switches. The paradigm permits calculation of switch rates and costs. The switch rate and cost varied as a function of number of switches (1, 2, 3). There were no differences in any measure in relation to right-left handedness in twin pairs. This was supported by large and significant within-twin pair correlations. Atypical functional lateralisation of inferior and middle frontal lobes does not appear to be associated with better or worse performance on verbal task-switching. Discordant lateralisation for verbal fluency does not predict behavioural performance profiles in MzHd twins. This evidence is compatible with a view that attentional components of verbal fluency task performance may have significant heritable components. It does not indicate that neural correlates of frontal cerebral laterality for verbal fluency in MzHd twins are significantly accountable for by heritable components. PMID:24092462

  1. Social Experiences in Kindergarten and Academic Achievement in Grade 1: A Monozygotic Twin Difference Study

    ERIC Educational Resources Information Center

    Vitaro, Frank; Boivin, Michel; Brendgen, Mara; Girard, Alain; Dionne, Ginette

    2012-01-01

    The goal of this study was to examine how different types of social experiences in kindergarten relate to Grade 1 academic achievement, while controlling for possible genetic and shared environmental influences through the use of the monozygotic (MZ) twin difference method. Social experiences in kindergarten included relationship quality with the…

  2. A Monozygotic Twin Differences Study of Nonshared Environmental Influence on Adolescent Depressive Symptoms

    ERIC Educational Resources Information Center

    Liang, Holan; Eley, Thalia C.

    2005-01-01

    The monozygotic (MZ) twin differences method was used to examine nonshared environmental aspects of the association of parenting (punitive and constructive discipline), negative life events (independent and dependent), and peers (antisocial and prosocial) with adolescent depressive symptoms in terms of sequelae, risk, and maintaining factors. Two…

  3. Genital Vulvar Lichen Sclerosus in Monozygotic Twin Women: A Case Report and Review of the Literature

    PubMed Central

    Doulaveri, Georgeta; Armira, Kalliopi; Kouris, Anargyros; Karypidis, Dimitrios; Potouridou, Irene

    2013-01-01

    Lichen sclerosus et atrophicus is a skin disease of multifactorial etiology which appears in patients with genetic or hormonal predisposition and autoimmune disease. Genetic predisposition is suggested by familial reports of the disease which involve twins, siblings, and mother-daughter/son series. This is a report of the occurrence of lichen sclerosus et atrophicus in monozygotic twin women, suggesting that inheritance is of relevance in the etiology of this disease. PMID:24348381

  4. A study of genetic and environmental contributions to structural brain changes over time in twins concordant and discordant for bipolar disorder.

    PubMed

    Bootsman, F; Brouwer, R M; Schnack, H G; Kemner, S M; Hillegers, M H J; Sarkisyan, G; van der Schot, A C; Vonk, R; Hulshoff Pol, H E; Nolen, W A; Kahn, R S; van Haren, N E M

    2016-08-01

    This is the first longitudinal twin study examining genetic and environmental contributions to the association between liability to bipolar disorder (BD) and changes over time in global brain volumes, and global and regional measures of cortical surface area, cortical thickness and cortical volume. A total of 50 twins from pairs discordant or concordant for BD (monozygotic: 8 discordant and 3 concordant pairs, and 1 patient and 3 co-twins from incomplete pairs; dizygotic: 6 discordant and 2 concordant pairs, and 1 patient and 7 co-twins from incomplete pairs) underwent magnetic resonance imaging twice. In addition, 57 twins from healthy twin pairs (15 monozygotic and 10 dizygotic pairs, and 4 monozygotic and 3 dizygotic subjects from incomplete pairs) were also scanned twice. Mean follow-up duration for all twins was 7.5 years (standard deviation: 1.5 years). Data were analyzed using structural equation modeling software OpenMx. The liability to BD was not associated with global or regional structural brain changes over time. Although we observed a subtle increase in cerebral white matter in BD patients, this effect disappeared after correction for multiple comparisons. Heritability of brain changes over time was generally low to moderate. Structural brain changes appear to follow similar trajectories in BD patients and healthy controls. Existing brain abnormalities in BD do not appear to progressively change over time, but this requires additional confirmation. Further study with large cohorts is recommended to assess genetic and environmental influences on structural brain abnormalities in BD, while taking into account the influence of lithium on the brain. PMID:27218817

  5. Sex ratios provide evidence for monozygotic twinning in the ring-tailed lemur, Lemur catta.

    PubMed

    St Clair, John; Campbell-Palmer, Roisin; Lathe, Richard

    2014-02-01

    Monozygotic (MZ) twinning is generally considered to be rare in species other than human. We inspected sex ratios in European zoo-bred ring-tailed lemurs (Lemur catta), revealing a significant excess of same-sex twins. Of 94 pairs, 60 (64%) were either both males or both females (p = .004). Application of the Weinberg differential rule argues that 27% of all twins in this species are MZ pairs. In this protected species, where twinning is commonplace (~50% of newborns are twins), the probable existence of frequent MZ twinning has ramifications for breeding programs aimed to maximize genetic diversity, and suggests that twin studies in a species other than human could have potential as a medical research tool. PMID:24384029

  6. Functional neuroimaging study in identical twin pairs discordant for regular cigarette smoking.

    PubMed

    Lessov-Schlaggar, Christina N; Lepore, Rebecca L; Kristjansson, Sean D; Schlaggar, Bradley L; Barnes, Kelly Anne; Petersen, Steven E; Madden, Pamela A F; Heath, Andrew C; Barch, Deanna M

    2013-01-01

    Despite the tremendous public health and financial burden of cigarette smoking, relatively little is understood about brain mechanisms that subserve smoking behavior. This study investigated the effect of lifetime regular smoking on brain processing in a reward guessing task using functional magnetic resonance imaging and a co-twin control study design in monozygotic (MZ) twin pairs that maximally controls for genetic and family background factors. Young adult (24-34 years) MZ female twin pairs (n = 15 pairs), discordant for regular smoking defined using Centers for Disease Control criteria as having smoked ≥100 cigarettes in their lifetime, were recruited from an ongoing genetic epidemiological longitudinal study of substance use and psychopathology. We applied hypothesis-driven region of interest (ROI) and whole-brain analyses to investigate the effect of regular smoking on reward processing. Reduced response to reward and punishment in regular compared with never-regular smokers was seen in hypothesis-driven ROI analysis of bilateral ventral striatum. Whole-brain analysis identified bilateral reward-processing regions that showed activation differences in response to winning or losing money but no effect of regular smoking; and frontal/parietal regions, predominantly in the right hemisphere, that showed robust effect of regular smoking but no effect of winning or losing money. Altogether, using a study design that maximally controls for group differences, we found that regular smoking had modest effects on striatal reward processing regions but robust effects on cognitive control/attentional systems. PMID:22340136

  7. Increased physical activity decreases hepatic free fatty acid uptake: a study in human monozygotic twins.

    PubMed

    Hannukainen, Jarna C; Nuutila, Pirjo; Borra, Ronald; Ronald, Borra; Kaprio, Jaakko; Kujala, Urho M; Janatuinen, Tuula; Heinonen, Olli J; Kapanen, Jukka; Viljanen, Tapio; Haaparanta, Merja; Rönnemaa, Tapani; Parkkola, Riitta; Knuuti, Juhani; Kalliokoski, Kari K

    2007-01-01

    Exercise is considered to be beneficial for free fatty acid (FFA) metabolism, although reports of the effects of increased physical activity on FFA uptake and oxidation in different tissues in vivo in humans have been inconsistent. To investigate the heredity-independent effects of physical activity and fitness on FFA uptake in skeletal muscle, the myocardium, and liver we used positron emission tomography (PET) in nine healthy young male monozygotic twin pairs discordant for physical activity and fitness. The cotwins with higher physical activity constituting the more active group had a similar body mass index but less body fat and 18 +/- 10% higher (P < 0.001) compared to the less active brothers with lower physical activity. Low-intensity knee-extension exercise increased skeletal muscle FFA and oxygen uptake six to 10 times compared to resting values but no differences were observed between the groups at rest or during exercise. At rest the more active group had lower hepatic FFA uptake compared to the less active group (5.5 +/- 4.3 versus 9.0 +/- 6.1 micromol (100 ml)(-1) min(-1), P = 0.04). Hepatic FFA uptake associated significantly with body fat percentage (P = 0.05). Myocardial FFA uptake was similar between the groups. In conclusion, in the absence of the confounding effects of genetic factors, moderately increased physical activity and aerobic fitness decrease body adiposity even in normal-weighted healthy young adult men. Further, increased physical activity together with decreased intra-abdominal adiposity seems to decrease hepatic FFA uptake but has no effects on skeletal muscle or myocardial FFA uptake. PMID:17053033

  8. NOTE: Trends of discordant fetal growth in monochorionic twin pregnancies

    NASA Astrophysics Data System (ADS)

    van Gemert, Martin J. C.; Umur, Asli

    2000-08-01

    We derived simple analytical relations representing trends of discordant fetal growth in monochorionic twins developing the twin-twin transfusion syndrome from an approximation of previously developed model equations. In severe twin-twin transfusion syndrome cases, the difference between the estimated fetal weights of both twins increases proportional to (t-5)5 (t denotes gestational age in weeks) and the sum of both weights increases proportional to t3. Hence, the ratio between the difference of estimated fetal weights and the average of the two weights (difference average ratio) increases in proportion to (t-5)5/t3. In mild cases, the difference between estimated fetal weights as well as the sum of the two weights increases proportional to t3. Therefore, the difference average ratio becomes a constant. Comparison with clinical data of severe and mild cases showed surprisingly good agreement except after laser coagulation of placental anastomoses. These relations may therefore enable us to distinguish between severe and mild developing twin-twin transfusion syndrome cases.

  9. Gut microbiomes of Malawian twin pairs discordant for kwashiorkor

    PubMed Central

    Smith, Michelle I.; Yatsunenko, Tanya; Manary, Mark J.; Trehan, Indi; Mkakosya, Rajhab; Cheng, Jiye; Kau, Andrew L.; Rich, Stephen S.; Concannon, Patrick; Mychaleckyj, Josyf C.; Liu, Jie; Houpt, Eric; Li, Jia V.; Holmes, Elaine; Nicholson, Jeremy; Knights, Dan; Ursell, Luke K.; Knight, Rob; Gordon, Jeffrey I.

    2013-01-01

    Kwashiorkor, an enigmatic form of severe acute malnutrition, is the consequence of inadequate nutrient intake plus additional environmental insults. To investigate the role of the gut microbiome, we studied 317 Malawian twin pairs during the first 3 years of life. During this time, half of the twin pairs remained well-nourished, while 43% became discordant and 7% manifested concordance for acute malnutrition. Both children in twin pairs discordant for kwashiorkor were treated with a peanut-based, ready-to-use therapeutic food (RUTF). Time-series metagenomic studies revealed that RUTF produced a transient maturation of metabolic functions in kwashiorkor microbiomes that regressed when RUTF was stopped. Previously frozen fecal communities from several discordant pairs were each transplanted into gnotobiotic mice. The combination of Malawian diet and kwashiorkor microbiome produced marked weight loss in recipient mice, accompanied by perturbations in amino acid, carbohydrate and intermediary metabolism that were only transiently ameliorated with RUTF. These findings implicate the gut microbiome as a causal factor in kwashiorkor. PMID:23363771

  10. Kawasaki disease in two sets of monozygotic twins: Is the etiology genetic or environmental?

    PubMed

    Zhang, Xiaomei; Sun, Jinghui; Zhai, Shubo; Yang, Sirui

    2013-01-01

    Two sets of monozygotic (MZ) twins with Kawasaki disease (KD) from two different families are reported. Twin set 1, previously healthy 71-day-old MZ twin girls were diagnosed with incomplete KD and pneumonia. The symptoms occurred at the same time in both girls. Both girls had ectasia of right coronary arteries. In twin set 2, the younger of 18-month-old MZ twin boys was diagnosed with KD and bronchitis. After 53 days, his elder brother was diagnosed with the same disease. The symptoms occurred at different time, but were almost identical. Neither boy displayed coronary artery changes. These findings support the hypothesis that genes susceptible to KD and coronary-artery lesions may exist in families. The different clinical characteristics among MZ twins from different families also suggest diverse and complex nature of KD. PMID:24353547

  11. The cognitive, behavioral, and personality profiles of a male monozygotic triplet set discordant for sexual orientation.

    PubMed

    Hershberger, Scott L; Segal, Nancy L

    2004-10-01

    The neurohormonal theory of sexual orientation proposes that homosexual men and homosexual women are exposed prenatally to a hormonal environment that is similar to that of the other sex. Prenatal exposure to an opposite-sex hormonal environment may lead the nervous system to develop in a manner consistent with the opposite sex. If this cross-sex exposure occurs, one prediction would be that the cognitive ability profile of homosexual men would be similar to that of heterosexual women. This study examined a set of male monozygotic triplets, aged 21 years, discordant for sexual orientation: 2 of the triplets were heterosexual, 1 was homosexual. The triplets were administered measures of 23 domains of cognitive ability, as well as measures of sexual orientation and masculinity/femininity. On the measures of cognitive ability, the triplets performed similarly, yet consistent differences were found between the 2 heterosexual triplets and the 1 homosexual cotriplet. Differences having the same pattern were found for the number of Schafer homosexuality signs on the Rorschach, and on a homosexuality scale derived from items on the Minnesota Multiphasic Personality Inventory--2 (MMPI-2). Responses from the homosexual triplet were in a more feminine direction than responses from his 2 heterosexual cotriplets on measures of masculinity-femininity, which included measures derived from Rorschach responses, the MMPI-2 Masculinity-Femininity scale, the Bem Sex Role Inventory, and the Boyhood Gender Conformity Scale. Responses to the 16 Personality Factor Questionnaire also distinguished the 1 homosexual triplet from the 2 heterosexual cotriplets. These findings support the view that the prenatal hormonal environment may have enduring effects on selected behavioral traits. PMID:15305120

  12. Neonatal morbidity in growth-discordant monochorionic twins: comparison between the larger and the smaller twin.

    PubMed

    Lopriore, Enrico; Sluimers, Carolien; Pasman, Suzanne A; Middeldorp, Johanna M; Oepkes, Dick; Walther, Frans J

    2012-08-01

    Fetal growth restriction in singletons has been shown to enhance fetal lung maturation and reduce the risk of respiratory distress syndrome due to increased endogenous steroid production. However, data on lung maturation in growth-discordant monochorionic (thus, identical) twins are lacking. Our objective was to compare the risk of severe neonatal morbidity between the larger and the smaller twin in monochorionic twins with birth weight discordance (BWD). We included in the study all consecutive monochorionic diamniotic pregnancies with severe BWD (≥25%) and two live-born twins delivered at our center (n=47 twin pairs). We compared the incidence of neonatal morbidity, particularly respiratory distress syndrome (RDS), and cerebral lesions between the larger and the smaller co-twin. The incidence of severe neonatal morbidity in the larger and smaller twin was 38% (18/47) and 19% (9/47), respectively (odds ratio (OR) 2.66, 95% confidence interval (CI) 0.94-7.44) and was due primarily to the higher incidence of RDS, 32% (15/47) and 6% (3/47), respectively (OR 6.88, 95% CI 1.66-32.83). In conclusion, this study shows that the larger twin in monochorionic twin pairs with BWD is at increased risk of severe neonatal morbidity, particularly RDS, compared to the smaller twin. PMID:22854118

  13. Maternal serum alpha fetoprotein in monozygotic and dizygotic twin pregnancies.

    PubMed

    Thom, H; Buckland, C M; Campbell, A G; Thompson, B; Farr, V

    1984-01-01

    Maternal serum alpha-fetoprotein (MSAFP) values in the second trimester have been related to pregnancy outcome for 100 normal twin pairs, 42 monozygous (MZ) and 58 dizygous (DZ), liveborn after 28 weeks gestation. The median MSAFP value was 1.9 multiples of the median value (MOM) for uncomplicated singleton pregnancies. Both very low and very high MSAFP values were associated with twins of low birthweight. MSAFP values were higher in MZ than DZ twin pregnancies particularly those with dizygotes of like-sex. This effect was even more marked when only dichorionic like-sex twin pairs were compared. PMID:6209699

  14. Brain Activation during Memory Encoding in Type 2 Diabetes Mellitus: A Discordant Twin Pair Study.

    PubMed

    Wood, Amanda G; Chen, Jian; Moran, Christopher; Phan, Thanh; Beare, Richard; Cooper, Kimberley; Litras, Stacey; Srikanth, Velandai

    2016-01-01

    Type 2 diabetes mellitus increases the risk of dementia and neuronal dysfunction may occur years before perceptible cognitive decline. We aimed to study the impact of type 2 diabetes on brain activation during memory encoding in middle-aged people, controlling for age, sex, genes, and early-shared environment. Twenty-two twin pairs discordant for type 2 diabetes mellitus (mean age 60.9 years) without neurological disease were recruited from the Australian Twin Registry (ATR) and underwent functional magnetic resonance imaging (fMRI) during a memory encoding task, cognitive tests, and structural MRI. Type 2 diabetes was associated with significantly reduced activation in left hemisphere temporoparietal regions including angular gyrus, supramarginal gyrus, and middle temporal gyrus and significantly increased activation in bilateral posteriorly distributed regions. These findings were present in the absence of within-pair differences in standard cognitive test scores, brain volumes, or vascular lesion load. Differences in activation were more pronounced among monozygotic (MZ) pairs, with MZ individuals with diabetes also displaying greater frontal activation. These results provide evidence for preclinical memory-related neuronal dysfunction in type 2 diabetes. They support the search for modifiable later-life environmental factors or epigenetic mechanisms linking type 2 diabetes and cognitive decline. PMID:27314047

  15. Brain Activation during Memory Encoding in Type 2 Diabetes Mellitus: A Discordant Twin Pair Study

    PubMed Central

    Wood, Amanda G.; Chen, Jian; Moran, Christopher; Phan, Thanh; Beare, Richard; Cooper, Kimberley; Litras, Stacey; Srikanth, Velandai

    2016-01-01

    Type 2 diabetes mellitus increases the risk of dementia and neuronal dysfunction may occur years before perceptible cognitive decline. We aimed to study the impact of type 2 diabetes on brain activation during memory encoding in middle-aged people, controlling for age, sex, genes, and early-shared environment. Twenty-two twin pairs discordant for type 2 diabetes mellitus (mean age 60.9 years) without neurological disease were recruited from the Australian Twin Registry (ATR) and underwent functional magnetic resonance imaging (fMRI) during a memory encoding task, cognitive tests, and structural MRI. Type 2 diabetes was associated with significantly reduced activation in left hemisphere temporoparietal regions including angular gyrus, supramarginal gyrus, and middle temporal gyrus and significantly increased activation in bilateral posteriorly distributed regions. These findings were present in the absence of within-pair differences in standard cognitive test scores, brain volumes, or vascular lesion load. Differences in activation were more pronounced among monozygotic (MZ) pairs, with MZ individuals with diabetes also displaying greater frontal activation. These results provide evidence for preclinical memory-related neuronal dysfunction in type 2 diabetes. They support the search for modifiable later-life environmental factors or epigenetic mechanisms linking type 2 diabetes and cognitive decline. PMID:27314047

  16. Suicidal Behaviors in Surviving Monozygotic and Dizygotic Co-Twins: Is the Nature of the Co-Twin's Cause of Death a Factor?

    ERIC Educational Resources Information Center

    Segal, Nancy L.

    2009-01-01

    Genetically informative samples can address hereditary and experiential influences on suicide-related behaviors. The frequency of suicide-related behaviors was compared in twins from two survivor groups: (1) those whose co-twins' deaths were suicides (monozygotic [MZ]: n = 47; dizygotic [DZ]: n = 31), and (2) those whose co-twins' deaths were…

  17. The inheritance of neuropsychological dysfunction in twins discordant for schizophrenia.

    PubMed

    Cannon, T D; Huttunen, M O; Lonnqvist, J; Tuulio-Henriksson, A; Pirkola, T; Glahn, D; Finkelstein, J; Hietanen, M; Kaprio, J; Koskenvuo, M

    2000-08-01

    While genetic influences in schizophrenia are substantial, the disorder's molecular genetic basis remains elusive. Progress has been hindered by lack of means to detect nonpenetrant carriers of the predisposing genes and by uncertainties concerning the extent of locus heterogeneity. One approach to solving this complexity is to examine the inheritance of pathophysiological processes mediating between genotype and disease phenotype. Here we evaluate whether deficits in neurocognitive functioning covary with degree of genetic relationship with a proband in the unaffected MZ and DZ co-twins of patients with schizophrenia. Twin pairs discordant for schizophrenia were recruited from a total population cohort and were compared with a demographically balanced sample of control twin pairs, on a comprehensive neuropsychological test battery. The following four neuropsychological functions contributed uniquely to the discrimination of degree of genetic loading for schizophrenia and, when combined, were more highly correlated within MZ pairs than within DZ pairs, in both discordant and control twins: spatial working memory (i.e., remembering a sequence of spatial locations over a brief delay), divided attention (i.e., simultaneous performance of a counting and visual-search task), intrusions during recall of a word list (i.e., "remembering" nonlist items), and choice reaction time to visual targets. Together with evidence from human and animal studies of mediation of these functions by partially distinct brain systems, our findings suggest that there are multiple independently inherited dimensions of neural deficit in schizophrenia and encourage a search for genes contributing to quantitative variation in discrete aspects of disease liability. On tests of verbal and visual episodic memory, but not on the liability-related measures, patients were more impaired than their own MZ co-twins, suggesting a preferential impact of nongenetic influences on long-term memory systems

  18. Danish cohort of monozygotic inflammatory bowel disease twins: Clinical characteristics and inflammatory activity

    PubMed Central

    Moller, Frederik Trier; Knudsen, Lina; Harbord, Marcus; Satsangi, Jack; Gordon, Hannah; Christiansen, Lene; Christensen, Kaare; Jess, Tine; Andersen, Vibeke

    2016-01-01

    AIM: To describe the establishment of a Danish inflammatory bowel diseases (IBD) twin cohort with focus on concordance of treatment and inflammatory markers. METHODS: We identified MZ twins, likely to be discordant or concordant for IBD, by merging information from the Danish Twin Register and the National Patient Register. The twins were asked to provide biological samples, questionnaires, and data access to patient files and public registries. Biological samples were collected via a mobile laboratory, which allowed for immediate centrifugation, fractionation, and storage of samples. The mean time from collection of samples to storage in the -80 °C mobile freezer was less than one hour. The diagnoses where validated using the Copenhagen diagnostic criteria. RESULTS: We identified 159 MZ IBD twin pairs, in a total of 62 (39%) pairs both twins agreed to participate. Of the supposed 62 IBD pairs, the IBD diagnosis could be confirmed in 54 pairs. The cohort included 10 concordant pairs, whereof some were discordant for either treatment or surgery. The 10 concordant pairs, where both pairs suffered from IBD, included eight CD/CD pairs, one UC/UC pair and one UC/IBDU pair. The discordant pairs comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 μg/g in 2 participants, and above 50 μg/g in a further 5 participants. CONCLUSION: The presented IBD twin cohorts are an excellent resource for bioinformatics studies with proper adjustment for disease-associated exposures including medication and inflammatory activity in the co-twins. PMID:27275097

  19. Transplantation between monozygotic twins: how identical are they?

    PubMed

    Day, Elizabeth; Kearns, Patrick K; Taylor, Craig J; Bradley, J Andrew

    2014-09-15

    Advances in developmental biology have shown that monozygous twins may not be as phenotypically identical as once believed, and the mechanisms responsible for such differences are now becoming clearer. Whether such phenotypic differences are capable of triggering graft rejection of an organ transplanted between identical twins remains unknown but the risks seem low, and long-term transplant outcome is excellent. Available evidence to guide immunosuppressive therapy in this setting is limited but a prudent approach would include the use of steroids together with a calcineurin inhibitor after transplantation. However, once the inevitable inflammatory response associated with transplant surgery has resolved, cautious reduction and eventually withdrawal of immunosuppression should be possible. PMID:25102303

  20. Agenesis of the Gallbladder in Monozygotic Twin Sisters

    PubMed Central

    Hoshi, Koki; Irisawa, Atsushi; Shibukawa, Goro; Yamabe, Akane; Fujisawa, Mariko; Igarashi, Ryo; Sato, Ai; Maki, Takumi

    2016-01-01

    Agenesis of the gallbladder, a rare anomaly, is generally regarded as an organogenic failure. Several reports suggest that this congenital defect is inherited but that supposition remains controversial. We described agenesis of the gallbladder in identical twins. A 21-year-old female presented with a history of acute pain in the epigastrium and right hypochondrium. Various imaging modalities showed “gallbladder agenesis.” Moreover, her older identical twin sister had also no visualized gallbladder in imaging modalities. This case report strongly suggested that agenesis of the gallbladder would be caused by a genetic abnormality. PMID:26925274

  1. Agenesis of the Gallbladder in Monozygotic Twin Sisters.

    PubMed

    Hoshi, Koki; Irisawa, Atsushi; Shibukawa, Goro; Yamabe, Akane; Fujisawa, Mariko; Igarashi, Ryo; Sato, Ai; Maki, Takumi

    2016-01-01

    Agenesis of the gallbladder, a rare anomaly, is generally regarded as an organogenic failure. Several reports suggest that this congenital defect is inherited but that supposition remains controversial. We described agenesis of the gallbladder in identical twins. A 21-year-old female presented with a history of acute pain in the epigastrium and right hypochondrium. Various imaging modalities showed "gallbladder agenesis." Moreover, her older identical twin sister had also no visualized gallbladder in imaging modalities. This case report strongly suggested that agenesis of the gallbladder would be caused by a genetic abnormality. PMID:26925274

  2. The Learning Styles of Monozygotic Twins Studying Science.

    ERIC Educational Resources Information Center

    Mascazine, John R.

    The background research on learning styles spans several decades, though much of it is quantitative data obtained using survey methods. Similarly, the research involving twins and their unique genetic condition historically predates the interest and knowledge of learning styles. This study seeks to explore both of these areas with the objective of…

  3. [Concordant deuteranomaly in monozygotic twin sisters (author's transl)].

    PubMed

    Franceschetti, A T; Klein, D; Dieterle, P

    1976-12-01

    Colorblind twin sisters were born from the marriage of a hemizygote with a carrier for colorblindness. The proof of monozygosity is given by the blood-group typing and the dermatoglyphs. The deuteranomaly is of the same degree in each but is more marked in one of the sisters. The mother has none of the microsymptoms sometimes found in carriers. PMID:1088162

  4. The Discordant MZ-Twin Method: One Step Closer to the Holy Grail of Causality

    ERIC Educational Resources Information Center

    Vitaro, Frank; Brendgen, Mara; Arseneault, Louise

    2009-01-01

    Twin studies are well known for their value in quantifying the contribution of genes to population variation in behaviors and personality traits. Twin studies also provide a unique opportunity to untangle the contribution of environmental experiences to emotional and behavioral development. This is particularly true when examining monozygotic (MZ)…

  5. Brazilian Twin Registry: A Bright Future for Twin Studies/Twin Research: Twin Study of Alcohol Consumption and Mortality; Oxygen Uptake in Adolescent Twins/In the News: Superfecundated Twins In Vietnam; Adolescent Twin Relations; Twin and Triplet Co-Workers; A Special Twin Ultrasound; Monozygotic Twins With Different Skin Color; Identical Twin Returns from Space.

    PubMed

    Segal, Nancy L

    2016-06-01

    The establishment of the Brazilian Twin Registry for the study of genetic, social, and cultural influences on behavior is one of eleven newly funded projects in the Department of Psychology at the University of São Paulo. These 11 interrelated projects form the core of the university's Center for Applied Research on Well-Being and Human Behavior. An overview of the planned twin research and activities to date is presented. Next, two recent twin studies are reviewed, one on the relationship between alcohol consumption and mortality, and the other on factors affecting maximal oxygen uptake. Twins cited in the media include the first identified superfecundated twins in Vietnam, adolescent twin relations, twins and triplets who work together, monozygotic twins with different skin tones and a co-twin control study that addresses the effects of space travel. PMID:27121223

  6. Differentiating between monozygotic twins through next-generation mitochondrial genome sequencing.

    PubMed

    Wang, Zheng; Zhu, Ruxin; Zhang, Suhua; Bian, Yinnan; Lu, Daru; Li, Chengtao

    2015-12-01

    Monozygotic (MZ) twins, considered to be genetically identical, cannot be distinguished from one another by standard forensic DNA testing. A recent study employed whole genome sequencing to identify extremely rare mutations and reported that mutation analysis could be used to differentiate between MZ twins. Compared with nuclear DNA, mitochondrial DNA (mtDNA) has higher mutation rates; therefore, minor differences theoretically exist in MZ twins' mitochondrial genome (mtGenome). However, conventional Sanger-type sequencing (STS) is neither amenable to, nor feasible for, the detection of low-level sequence variants. The recent introduction of massively parallel sequencing (MPS) has the capability to sequence many targeted regions of multiple samples simultaneously with desirable depth of coverage. Thus, the aim of this study was to assess whether full mtGenome sequencing analysis can be used to differentiate between MZ twins. Ten sets of MZ twins provided blood samples that underwent extraction, quantification, mtDNA enrichment, library preparation, and ultra-deep sequencing. Point heteroplasmies were observed in eight sets of MZ twins, and a single nucleotide variant (nt15301) was detected in five sets of MZ twins. Thus, this study demonstrates that ultra-deep mtGenome sequencing could be used to differentiate between MZ twins. PMID:26327617

  7. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

    PubMed

    Castiglioni, Claudia; López, Isabel; Riant, Florence; Bertini, Enrico; Terracciano, Alessandra

    2013-05-01

    PRRT2 gene mutations have recently been identified as a causative gene of Paroxysmal kinesigenic dyskinesia (PKD), a rare movement disorder characterised by the occurrence of chorea, dystonia or athetosis triggered by sudden action. Some patients have additional intermittent neurologic disorders like infantile convulsions. The association with migraine has been rarely reported in this condition. Here we report the coexistence of PKD and hemiplegic migraine in twins harbouring a heterozygous mutation in PRRT2. Two monozygotic twins manifesting PKD together with repeated episodes of migraine with some severe attacks of hemiplegic migraine have been followed and treated for more than 10 years. Molecular genetic analysis disclosed the c.649_650insC, p.R217Pfs*8 heterozygous mutation in both twins. This mutation was segregating from the mother who likewise harboured the same mutation c.649dupC although she had never manifested PKD but complained of rare common migraine attacks in her past history. The association of PKD and hemiplegic migraine has been previously reported in one large family, associated to febrile convulsions and afebrile seizures in some individuals, but our report relates this association of symptoms to a mutation in PRRT2. The co-occurrence of both hemiplegic migraine and PKD in monozygotic twins expands the phenotypic spectrum of intermittent manifestations related to PRRT2 and perhaps suggests an additional causing gene for hemiplegic migraine. PMID:23182655

  8. Impact of hip fracture on mortality: a cohort study in hip fracture discordant identical twins.

    PubMed

    Michaëlsson, Karl; Nordström, Peter; Nordström, Anna; Garmo, Hans; Byberg, Liisa; Pedersen, Nancy L; Melhus, Håkan

    2014-02-01

    Several studies have shown a long-lasting higher mortality after hip fracture, but the reasons for the excess risk are not well understood. We aimed to determine whether a higher mortality after hip fracture exists when controlling for genetic constitution, shared environment, comorbidity, and lifestyle by use of a nationwide cohort study in hip fracture discordant monozygotic twins. All 286 identical Swedish twin pairs discordant for hip fracture (1972 to 2010) were identified. Comorbidity and lifestyle information was retrieved by registers and questionnaire information. We used intrapair Cox regression to compute multivariable-adjusted hazard ratios (HRs) for death. During follow-up, 143 twins with a hip fracture died (50%) compared with 101 twins (35%) without a hip fracture. Through the first year after hip fracture, the rate of death increased fourfold in women (HR = 3.71; 95% confidence interval [CI] 1.32-10.40) and sevenfold in men (HR = 6.67; 95% CI 1.47-30.13). The increased rate in women only persisted during the first year after hip fracture (HR after 1 year = 0.99; 95% CI 0.66-1.50), whereas the corresponding HR in men was 2.58 (95% CI 1.02-6.62). The higher risk in men after the hip fracture event was successively attenuated during follow-up. After 5 years, the hazard ratio in men with a hip fracture was 1.19 (95% CI 0.29-4.90). On average, the hip fracture contributed to 0.9 years of life lost in women (95% CI 0.06-1.7) and 2.7 years in men (95% CI 1.7-3.7). The potential years of life lost associated with the hip fracture was especially pronounced in older men (>75 years), with an average loss of 47% (95% CI 31-61) of the expected remaining lifetime. We conclude that both women and men display a higher mortality after hip fracture independent of genes, comorbidity, and lifestyle. PMID:23821464

  9. Vocal fold bowing in elderly male monozygotic twins: a case study.

    PubMed

    Tanner, Kristine; Sauder, Cara; Thibeault, Susan L; Dromey, Christopher; Smith, Marshall E

    2010-07-01

    This case study examined case histories, diagnostic features, and treatment response in two 79-year-old male monozygotic (identical) twins with vocal fold bowing, exploring both genetic and environmental factors. DNA concordance was examined via cheek swab. Case histories, videostroboscopy, auditory- and visual-perceptual assessment, electromyography, acoustic measures, and Voice Handicap ratings were undertaken. Both twins underwent surgical intervention and subsequent voice therapy. Monozygosity was confirmed for DNA polymorphisms, with 10 of 10 concordance for STR DNA markers. For both twins, auditory- and visual-perceptual assessments indicated severe bowing, hoarseness, and breathiness, although Twin 1 was judged to be extremely severe. Differences in reference to root-mean-square amplitudes were observed for thyroarytenoid and lateral cricoarytenoid muscles, with smaller relative amplitudes observed for the Twin 1 versus Twin 2. No consistent voice improvement was observed after surgical intervention(s), despite improved mid-membranous vocal fold closure. Marked reductions in Voice Handicap Index total scores were observed after behavioral voice therapy, coinciding with increased mid-membranous and posterior laryngeal (interarytenoid) glottal closure. No substantive differences in acoustic measures were observed. Vocal fold bowing was more severe for Twin 1 versus Twin 2 despite identical heritability factors. Overall voice improvement with treatment was greater for Twin 2 than Twin 1. Environmental factors might partially account for the differences observed between the twins, including variability in their responsiveness to behavioral voice therapy. Voice therapy was useful in improving mid-membranous and posterior laryngeal closure, although dysphonia remained severe in both cases. PMID:19664899

  10. Nonshared environmental effects on adulthood psychopathic personality traits: results from a monozygotic twin difference scores analysis.

    PubMed

    Beaver, Kevin M; Vaughn, Michael G; Delisi, Matt

    2013-09-01

    An emerging body of empirical research has revealed that nonshared environmental factors are associated with explaining variance in measures of psychopathy and psychopathic personality traits. The current study adds to this existing knowledge base by analyzing a measure of psychopathy derived, in part, from the five factor model in a sample of monozygotic (MZ) twin pairs drawn from the National Longitudinal Study of Adolescent Health. The results of the MZ twin difference scores analysis revealed that nonshared environmental factors found within the family were unrelated to between-twin differences in psychopathic personality traits. Only one nonshared factor--levels of self-control--consistently predicted psychopathy. We conclude by discussing the implications of our findings and the limitations of our study. PMID:23378034

  11. Double jeopardy: multi-modality imaging of monozygotic "twin cap" atherosclerosis.

    PubMed

    Murray, Scott W; Cooper, Robert M; Appleby, Clare; McCann, Caroline; Binukrishnan, Sukumaran; Radu, Maria D; Stables, Rodney H

    2014-11-01

    The investigation of asymptomatic but potentially vulnerable atherosclerosis is not yet a major focus for clinical Cardiologists. We have illustrated the contemporary investigation and treatment of such disease using a clinical case that involved monozygotic twins. One twin (T1) had unfortunately suffered a cardiac arrest whilst jogging and survived only due to bystander CPR and prompt defibrillation. His identical twin brother (T2), on subsequent investigation, harbours a compositionally identical lesion in a proximal coronary vessel that has not yet ruptured or provoked a clinical event. Following the presentation of both non-invasive and invasive images, we discuss the need for active suspicion and intensive treatment for those people with a 'genetic' risk of future myocardial infarction. PMID:25282686

  12. Differentiating between monozygotic twins through DNA methylation-specific high-resolution melt curve analysis.

    PubMed

    Stewart, Leander; Evans, Neil; Bexon, Kimberley J; van der Meer, Dieudonne J; Williams, Graham A

    2015-05-01

    Although short tandem repeat profiling is extremely powerful in identifying individuals from crime scene stains, it is unable to differentiate between monozygotic (MZ) twins. Efforts to address this include mutation analysis through whole genome sequencing and through DNA methylation studies. Methylation of DNA is affected by environmental factors; thus, as MZ twins age, their DNA methylation patterns change. This can be characterized by bisulfite treatment followed by pyrosequencing. However, this can be time-consuming and expensive; thus, it is unlikely to be widely used by investigators. If the sequences are different, then in theory the melting temperature should be different. Thus, the aim of this study was to assess whether high-resolution melt curve analysis can be used to differentiate between MZ twins. Five sets of MZ twins provided buccal swabs that underwent extraction, quantification, bisulfite treatment, polymerase chain reaction amplification and high-resolution melting curve analysis targeting two markers, Alu-E2F3 and Alu-SP. Significant differences were observed between all MZ twins targeting Alu-E2F3 and in four of five MZ twins targeting Alu-SP (P<0.05). Thus, it has been demonstrated that bisulfite treatment followed by high-resolution melting curve analysis could be used to differentiate between MZ twins. PMID:25677265

  13. [Discordant growth in twin pregnancy--value of Doppler ultrasound].

    PubMed

    Grab, D; Hütter, W; Haller, T; Sterzik, K; Terinde, R

    1993-01-01

    A 4 MHz continuous-wave Doppler device was used to study uterine and umbilical arterial wave forms in 91 pairs of twins between 18th and 40th week of gestation. Biometry and cord localisation were effected by real-time ultrasound. The results of 182 Doppler flow examinations showed that umbilical flow velocimetry may prove relevant for early identification of twin pregnancies with discordant growth. Depending on the interval between examination and delivery, sensitivity and specificity values between 44% and 66%, and 66% and 73%, respectively, were obtained. A high resistance index in umbilical arteries was indicative of intrauterine growth retardation, at a specificity of 69% and a sensitivity of 44%. For uteroplacental as well as foetoplacental flow velocity waveform assessment, singleton reference values may be used, whereas, by reason of its low sensitivity, Doppler flow velocimetry does not lend itself as a primary diagnostic tool for intrauterine growth retardation. It can signal pathologic blood flow profiles, which are often associated with added risks, such as pregnancy-induced hypertension, foetal acidosis and stillbirth and can contribute to early detection of twin pregnancies that require close clinical and cardiotocographic surveillance. PMID:8440457

  14. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women.

    PubMed

    Milsom, Stella Ruth; Ogilvie, Cara Megan; Jefferies, Craig; Cree, Lynsey

    2015-01-01

    Infertility has previously been considered as an inevitable consequence of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. With modern assisted reproductive technology (ART) techniques becoming increasingly accessible, MRKH women have the opportunity for their own genetic offspring. The availability of such technology, however, increases the importance of understanding the aetiology of this complex condition. The literature debating the relevance of genetic versus post-zygotic events in the aetiology of MRKH syndrome is reviewed in the context of this report of monozygotic twins discordant for MRKH syndrome. PMID:26291808

  15. A spare or an individual? Cloning and the implications of monozygotic twinning.

    PubMed

    Bryan, E M

    1998-01-01

    The creation of Dolly, the cloned sheep, raises the scenario of cloning in humans. Neither the case for, nor against, the ethics of cloning in humans is discussed in this paper. Instead, it considers the neglected issue of the likely happiness or otherwise of the resulting children if they are born as monozygotic twins or triplets. The advantages and disadvantages of twinship are discussed in detail, and it is concluded that recognized medical risks, and incompletely understood psychological effects, should be given serious consideration. PMID:10098472

  16. Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins.

    PubMed

    Ruggeri, Paolo; Calcaterra, Salvatore; Girbino, Giuseppe

    2015-01-01

    Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000. Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual. We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up. PMID:26029576

  17. Habitual dietary intake is associated with stool microbiota composition in monozygotic twins.

    PubMed

    Simões, Catarina D; Maukonen, Johanna; Kaprio, Jaakko; Rissanen, Aila; Pietiläinen, Kirsi H; Saarela, Maria

    2013-04-01

    The impact of diet on the gut microbiota has usually been assessed by subjecting people to the same controlled diet and thereafter following the shifts in the microbiota. In the present study, we used habitual dietary intake, clinical data, quantitative polymerase chain reaction, and denaturing gradient gel electrophoresis (DGGE) to characterize the stool microbiota of Finnish monozygotic twins. The effect of diet on the numbers of bacteria was described through a hierarchical linear mixed model that included the twin individuals, stratified by body mass index, and their families as random effects. The abundance and diversity of the bacterial groups studied did not differ between normal-weight, overweight, and obese individuals with the techniques used. Intakes of energy, monounsaturated fatty acids, n3 polyunsaturated fatty acids (PUFAs), n6 PUFAs, and soluble fiber had significant associations with the stool bacterial numbers (e.g., increased energy intake was associated with reduced numbers of Bacteroides spp.). In addition, co-twins with identical energy intake had more similar numbers and DGGE-profile diversities of Bacteroides spp. than did the co-twins with different intake. Moreover, the co-twins who ingested the same amounts of saturated fatty acids had very similar DGGE profiles of Bacteroides spp., whereas the co-twins with similar consumption of fiber had a very low bifidobacterial DGGE-profile similarity. In conclusion, our findings confirm that the diet plays an important role in the modulation of the stool microbiota, in particular Bacteroides spp. and bifidobacteria. PMID:23343669

  18. MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.

    PubMed

    Lopez, Sofia I N; Mundstock, Karina S; Paixão-Côrtes, Vanessa R; Schüler-Faccini, Lavínia; Mundstock, Carlos A; Bortolini, Maria Cátira; Salzano, Francisco M

    2013-12-01

    Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression. PMID:24103583

  19.  Monozygotic twins with NASH cirrhosis: cumulative effect of multiple single nucleotide polymorphisms?

    PubMed

    Grove, Jane I; Austin, Mark; Tibble, Jeremy; Aithal, Guruprasad P; Verma, Sumita

    2016-01-01

     Multiple genetic and environmental factors interact to determine an individual's predisposition to non-alcoholic fatty liver disease and its phenotypic characteristics. Association studies have found a number of alleles associated with the development of non-alcoholic steatohepatitis. Our aim was to investigate whether multiple risk-associated alleles may be present in affected monozygotic twins, indicating underlying genetic predisposition to non-alcoholic steatohepatitis. We determined the genotype of 14 candidate gene polymorphisms (at 11 unlinked loci) in a set of monozygotic twins who presented with cirrhosis within 18 months of each other. Genotyping revealed multiple single nucleotide polymorphisms at 9 independent loci in genes PNPLA3, APOC3, GCKR, TRIB1, LYPLAL1, PPP1R3B, COL13A1, and EFCAB4B, previously implicated in contributing to non-alcoholic steatohepatitis pathogenesis. In conclusion, this case series illustrates the potential cumulative effect of multiple polymorphisms in the development and potential progression of a complex trait such as NASH cirrhosis. PMID:26845607

  20. Organ donation: a twin-based perspective.

    PubMed

    Segal, Nancy L

    2012-04-01

    Monozygotic cotwins are ideal organ donors for one another due to their genetic identity. The present report treats this topic differently, from the perspective of a monozygotic twin who donated her deceased twin sister's organs following her sister's untimely death. This discussion is followed by reviews of recent research concerning increased twinning rates in the United States, availability of informative kinship pedigrees, and twin discordance for physical activities. Noteworthy news items include ethical issues surrounding conjoined twin separation, a genomic discovery for diseased twins, China's One-Child Policy, a striking New Yorker Magazine cartoon, and twin delivery complications. PMID:22856360

  1. First Language Attrition in the Speech of Dutch-English Bilinguals: The Case of Monozygotic Twin Sisters

    ERIC Educational Resources Information Center

    Mayr, Robert; Price, Sacha; Mennen, Ineke

    2012-01-01

    Recent years have seen a proliferation of research on attrition in L1 speech (de Leeuw, Mennen & Scobbie, in press; de Leeuw, Schmid & Mennen, 2010; Dmitrieva, Jongman & Sereno, 2010; Mennen, 2004). Adding to this line of inquiry, the present study investigates the speech of a 62-year-old bilingual monozygotic twin who emigrated to an L2-speaking…

  2. Nonshared Environmental Influences on Teacher-Reported Behaviour Problems: Monozygotic Twin Differences in Perceptions of the Classroom

    ERIC Educational Resources Information Center

    Oliver, Bonamy R.; Pike, Alison; Plomin, Robert

    2008-01-01

    Background: The identification of specific nonshared environments responsible for the variance in behaviour problems is a key challenge. Methods: Nonshared environmental influences on teacher-reported behaviour problems were explored independently of genetics using the monozygotic (MZ) twin differences design. Six aspects of classroom environment…

  3. Association Between Promoter Methylation of Serotonin Transporter Gene and Depressive Symptoms: A Monozygotic Twin Study

    PubMed Central

    Zhao, Jinying; Goldberg, Jack; Bremner, James D.; Vaccarino, Viola

    2013-01-01

    Objective Epigenetic mechanisms have been implicated in the pathogenesis of psychiatric disorders. The serotonin transporter gene (SLC6A4) is a key candidate gene for depression. We examined the association between SLC6A4 promoter methylation variation and depressive symptoms using 84 monozygotic twin pairs. Methods DNA methylation level in the SLC6A4 promoter region was quantified by bisulfite pyrosequencing using genomic DNA isolated from peripheral blood leukocytes. The number of current depressive symptoms was assessed using the Beck Depressive Inventory II (BDI-II). The association between methylation variation and depressive symptoms was examined using matched twin-pair analyses, adjusting for body mass index, smoking, physical activity, and alcohol consumption. Multiple testing was controlled by adjusted false discovery rate (q value). Results Intrapair difference in DNA methylation variation at 10 of the 20 studied CpG sites is significantly correlated with intrapair difference in BDI scores. Linear regression using intrapair differences demonstrates that intrapair difference in BDI score was significantly associated with intrapair differences in DNA methylation variation after adjusting for potential confounders and correction for multiple testing. On average, a 10% increase in the difference in mean DNA methylation level was associated with 4.4 increase in the difference in BDI score (95% confidence interval = 0.9–7.9, p = .01). Conclusions This study provides evidence that variation in methylation level within the promoter region of the serotonin transporter gene is associated with variation in depressive symptoms in a large sample of monozygotic twin pairs. This relationship is not confounded by genetic and shared environment. The 5-HTTLPR genotype also does not modulate this association. PMID:23766378

  4. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings

    PubMed Central

    Touma, Marlin; Joshi, Mugdha; Connolly, Meghan C.; Grant, P. Ellen; Hansen, Anne R.; Khwaja, Omar; Berry, Gerard T.; Kinney, Hannah C.; Poduri, Annapurna; Agrawal, Pankaj B.

    2013-01-01

    Mutations in SCN2A gene cause a variety of epilepsy syndromes. We report a novel SCN2A-associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth and a suppression-burst EEG pattern. We reviewed the medical records, EEG tracings, MRI, neuropathological findings, and performed whole genome sequencing (WGS) on Twin B’s DNA and Sanger sequencing (SS) on candidate gene mutations. Extensive neurometabolic evaluation and early neuroimaging studies were normal. Twin A died of an iatrogenic cause at 2 weeks of life. His neuropathologic examination was remarkable for dentato-olivary dysplasia and granule cell dispersion of the dentate gyrus. Twin B became seizure-free at 8 months and was off anti-epileptic drugs by 2 years. His brain MRI, normal at 2 months, revealed evolving brainstem and basal ganglia abnormalities at 8 and 15 months that resolved by 20 months. At 2.5 years, Twin B demonstrated significant developmental delay. Twin B’s WGS revealed a heterozygous variant c.788C>T predicted to cause p.Ala263Val change in SCN2A and confirmed to be de novo in both twins by SS. In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin. PMID:23550958

  5. A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

    PubMed

    Dunkerton, Sophie; Field, Matthew; Cho, Vicki; Bertram, Edward; Whittle, Belinda; Groves, Alexandra; Goel, Himanshu

    2015-09-01

    Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann-Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in KMT2A. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole-exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A de novo heterozygous variant (p. Arg1083*) in the KMT2A gene was identified through whole-exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in KMT2A associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before. PMID:25929198

  6. Presumed monozygotic twins develop following transfer of an in vitro-produced equine embryo

    PubMed Central

    ROBERTS, Melissa Ann; LONDON, Kelly; CAMPOS-CHILLÓN, Lino Fernando; ALTERMATT, Joy Lynn

    2015-01-01

    ABSTRACT An equine embryo produced by intracytoplasmic sperm injection (ICSI) was trans-cervically transferred to a recipient mare and pregnancy was confirmed via ultrasound examination on days 11, 12 and 15. On days 20 and 22, a single embryonic proper with a heartbeat was observed. On day 29, two embryos proper appeared during ultrasound examination, each possessing a heartbeat. Subsequent examinations on days 35 and 39 revealed continued viability and development of both embryos proper. On day 49, demise of both fetuses was present. Although no DNA analysis or post-partum examinations were performed, it is presumed that the fetuses were monozygotic twins based on membrane classification by ultrasound imaging as well as development occurring after the transfer of a single in vitro-produced embryo. PMID:26435682

  7. Epigenetic Variation in Monozygotic Twins: A Genome-Wide Analysis of DNA Methylation in Buccal Cells

    PubMed Central

    van Dongen, Jenny; Ehli, Erik A.; Slieker, Roderick C.; Bartels, Meike; Weber, Zachary M.; Davies, Gareth E.; Slagboom, P. Eline; Heijmans, Bastiaan T.; Boomsma, Dorret I.

    2014-01-01

    DNA methylation is one of the most extensively studied epigenetic marks in humans. Yet, it is largely unknown what causes variation in DNA methylation between individuals. The comparison of DNA methylation profiles of monozygotic (MZ) twins offers a unique experimental design to examine the extent to which such variation is related to individual-specific environmental influences and stochastic events or to familial factors (DNA sequence and shared environment). We measured genome-wide DNA methylation in buccal samples from ten MZ pairs (age 8–19) using the Illumina 450k array and examined twin correlations for methylation level at 420,921 CpGs after QC. After selecting CpGs showing the most variation in the methylation level between subjects, the mean genome-wide correlation (rho) was 0.54. The correlation was higher, on average, for CpGs within CpG islands (CGIs), compared to CGI shores, shelves and non-CGI regions, particularly at hypomethylated CpGs. This finding suggests that individual-specific environmental and stochastic influences account for more variation in DNA methylation in CpG-poor regions. Our findings also indicate that it is worthwhile to examine heritable and shared environmental influences on buccal DNA methylation in larger studies that also include dizygotic twins. PMID:24802513

  8. Epigenetic variation in monozygotic twins: a genome-wide analysis of DNA methylation in buccal cells.

    PubMed

    van Dongen, Jenny; Ehli, Erik A; Slieker, Roderick C; Bartels, Meike; Weber, Zachary M; Davies, Gareth E; Slagboom, P Eline; Heijmans, Bastiaan T; Boomsma, Dorret I

    2014-01-01

    DNA methylation is one of the most extensively studied epigenetic marks in humans. Yet, it is largely unknown what causes variation in DNA methylation between individuals. The comparison of DNA methylation profiles of monozygotic (MZ) twins offers a unique experimental design to examine the extent to which such variation is related to individual-specific environmental influences and stochastic events or to familial factors (DNA sequence and shared environment). We measured genome-wide DNA methylation in buccal samples from ten MZ pairs (age 8-19) using the Illumina 450k array and examined twin correlations for methylation level at 420,921 CpGs after QC. After selecting CpGs showing the most variation in the methylation level between subjects, the mean genome-wide correlation (rho) was 0.54. The correlation was higher, on average, for CpGs within CpG islands (CGIs), compared to CGI shores, shelves and non-CGI regions, particularly at hypomethylated CpGs. This finding suggests that individual-specific environmental and stochastic influences account for more variation in DNA methylation in CpG-poor regions. Our findings also indicate that it is worthwhile to examine heritable and shared environmental influences on buccal DNA methylation in larger studies that also include dizygotic twins. PMID:24802513

  9. Risk Factors and Relationship of Cutaneous and Uveal Melanocytic Lesions in Monozygotic and Dizygotic Twin Pairs

    PubMed Central

    Varga, Anita; Szabó, Hajnalka; Orvos, Hajnalka; Kemény, Lajos; Oláh, Judit

    2016-01-01

    Background The similar genetic background of a pair of twins, and the similar environmental impacts to which they are exposed allow an exact and objective investigation of various constitutional and environmental factors in naevus development. As far as we are aware, this is the first published survey that simultaneously examines cutaneous and ocular pigmented lesions in an appreciable sample of identical and non-identical twins. Methods 172 pairs of twins of Caucasian origin were included in this study. A whole-body skin examination and a detailed ophthalmological examination were performed to determine the density of melanocytic lesions. A standardized questionnaire was used to assess the data relating to constitutional, sun exposure and other variables. Results A notably high proportion of the subjects (36.78%) manifested one or more clinically atypical melanocytic naevi (CAMNs), and approximately one-third (31.4%) of them at least one benign uveal pigmented lesion (BUPL). The incidence of iris freckles (IFs), iris naevi (INs) and choroidal naevi (CHNs) proved to be 25.35%, 5.98% and 3.52%, respectively. The interclass correlation coefficients for common melanocytic naevi (CMNs), CAMNs, and INs were 0.77, 0.76 and 0.86 in monozygotic twins, as compared with 0.5, 0.27 and 0.25 in dizygotic twin pairs, respectively. A statistically significant correlation was found between the prevalence of CAMNs and that of INs. Conclusions This significant correlation suggests the existence of a subgroup of Caucasian people with an increased susceptibility to both cutaneous and ocular naevus formation. There is accumulating evidence that, besides the presence of cutaneous atypical naevi, INs can serve as a marker of a predisposed phenotype at risk of uveal melanoma. The correlation between cutaneous and ocular pigmented lesions underlines the need for the adequate ophthalmological screening of subjects with CAMNs and INs. PMID:27486750

  10. Genome-wide DNA methylation variability in adolescent monozygotic twins followed since birth.

    PubMed

    Lévesque, Mélissa L; Casey, Kevin F; Szyf, Moshe; Ismaylova, Elmira; Ly, Victoria; Verner, Marie-Pier; Suderman, Matthew; Brendgen, Mara; Vitaro, Frank; Dionne, Ginette; Boivin, Michel; Tremblay, Richard E; Booij, Linda

    2014-10-01

    DNA methylation patterns are characterized by highly conserved developmental programs, but allow for divergent gene expression resulting from stochastic epigenetic drift or divergent environments. Genome-wide methylation studies in monozygotic (MZ) twins are providing insight into the extent of epigenetic variation that occurs, irrespective of genotype. However, little is known about the variability of DNA methylation patterns in adolescence, a period involving significant and rapid physical, emotional, social, and neurodevelopmental change. Here, we assessed genome-wide DNA methylation using the 450 K Illumina BeadChip in a sample of 37 MZ twin pairs followed longitudinally since birth to investigate: 1) the extent of variation in DNA methylation in identical genetic backgrounds in adolescence and; 2) whether these variations are randomly distributed or enriched in particular functional pathways. We also assessed stability of DNA methylation over 3-6 months to distinguish stable trait-like and variable state-like genes. A pathway analysis found high within-pair variability in genes associated with development, cellular mechanisms, tissue and cell morphology, and various disorders. Test-retest analyses performed in a sub-sample of 8 twin pairs demonstrated enrichment in gene pathways involved in organismal development, cellular growth and proliferation, cell signaling, and particular disorders. The variability found in functional gene pathways may plausibly underlie phenotypic differences in this adolescent MZ twin sample. Furthermore, we assessed stability of methylation over 3-6 months and found that some genes were stable while others were unstable, suggesting that the methylome remains dynamic in adolescence and that dynamic sites tend to be organized in certain gene pathways. PMID:25437055

  11. Genome-wide DNA methylation variability in adolescent monozygotic twins followed since birth

    PubMed Central

    Lévesque, Mélissa L; Casey, Kevin F; Szyf, Moshe; Ismaylova, Elmira; Ly, Victoria; Verner, Marie-Pier; Suderman, Matthew; Brendgen, Mara; Vitaro, Frank; Dionne, Ginette; Boivin, Michel; Tremblay, Richard E; Booij, Linda

    2014-01-01

    DNA methylation patterns are characterized by highly conserved developmental programs, but allow for divergent gene expression resulting from stochastic epigenetic drift or divergent environments. Genome-wide methylation studies in monozygotic (MZ) twins are providing insight into the extent of epigenetic variation that occurs, irrespective of genotype. However, little is known about the variability of DNA methylation patterns in adolescence, a period involving significant and rapid physical, emotional, social, and neurodevelopmental change. Here, we assessed genome-wide DNA methylation using the 450 K Illumina BeadChip in a sample of 37 MZ twin pairs followed longitudinally since birth to investigate: 1) the extent of variation in DNA methylation in identical genetic backgrounds in adolescence and; 2) whether these variations are randomly distributed or enriched in particular functional pathways. We also assessed stability of DNA methylation over 3–6 months to distinguish stable trait-like and variable state-like genes. A pathway analysis found high within-pair variability in genes associated with development, cellular mechanisms, tissue and cell morphology, and various disorders. Test-retest analyses performed in a sub-sample of 8 twin pairs demonstrated enrichment in gene pathways involved in organismal development, cellular growth and proliferation, cell signaling, and particular disorders. The variability found in functional gene pathways may plausibly underlie phenotypic differences in this adolescent MZ twin sample. Furthermore, we assessed stability of methylation over 3–6 months and found that some genes were stable while others were unstable, suggesting that the methylome remains dynamic in adolescence and that dynamic sites tend to be organized in certain gene pathways. PMID:25437055

  12. Promoter methylation of serotonin transporter gene is associated with obesity measures: a monozygotic twin study

    PubMed Central

    Zhao, J; Goldberg, J; Vaccarino, V

    2013-01-01

    Objective: Epigenetic mechanisms are increasingly being recognized as an important factor for obesity. The serotonin transporter gene (SLC6A4) has a critical role in regulating food intake, body weight and energy balance. This study examines the potential association between SLC6A4 promoter methylation and obesity measures in a monozygotic (MZ) twin sample. Methods: We studied 84 MZ twin pairs drawn from the Vietnam Era Twin Registry. Obesity measures include body mass index (BMI), body weight, waist circumference (WC) and waist-hip ratio (WHR). The SLC6A4 promoter methylation profile in peripheral blood leukocytes was quantified by bisulfite pyrosequencing. The association between methylation variation and obesity parameters was examined by mixed-model regression and matched pair analysis, adjusting for age, smoking, alcohol consumption, physical activity and total daily energy intake. Multiple testing was controlled using the adjusted false discovery rate (q-value). Results: Mean methylation level was positively correlated with BMI (r=0.29; P=0.0002), body weight (r=0.31; P<0.0001) and WC (r=0.20; P=0.009), but not WHR. Intra-pair differences in mean methylation were significantly correlated with intra-pair differences in BMI, body weight and WC, but not WHR. On average, a 1% increase in mean methylation was associated with 0.33 kg m−2 increase in BMI (95% CI: 0.02–0.65; P=0.03), 1.16 kg increase in body weight (95% CI, 0.16–2.16; P=0.02) and 0.78 cm increase in WC (95% CI, 0.05–1.50; P=0.03) after controlling for potential confounders. Conclusions: SLC6A4 promoter hypermethylation is significantly associated with an increased prevalence of obesity within a MZ twin study. PMID:22290534

  13. Adolescent Drinking and Motivated Decision-Making: A Cotwin-Control Investigation with Monozygotic Twins

    PubMed Central

    Malone, Stephen M.; Luciana, Monica; Wilson, Sylia; Sparks, Jordan C.; Hunt, Ruskin H.; Thomas, Kathleen M.; Iacono, William G.

    2014-01-01

    The present study used a monozygotic (MZ) cotwin-control (CTC) design to investigate associations between alcohol use and performance on the Iowa Gambling Task (IGT) in a sample of 96 adolescents (half female). The MZ CTC design is well suited to shed light on whether poor decision-making, as reflected on IGT performance, predisposes individuals to abuse substances or is a consequence of use. Participants completed structural MRI scans as well, from which we derived gray matter volumes for cortical and subcortical regions involved in IGT performance and reduced in adolescents with problematic alcohol use. Drinking was associated with poorer task performance and with reduced volume of the left lateral orbital-frontal cortex. CTC analyses indicated that the former was due to differences between members of twin pairs in alcohol use (suggesting a causal effect of alcohol), whereas the latter was due to factors shared by twins (consistent with a pre-existing vulnerability for use). Although these preliminary findings warrant replication, they suggest that normative levels of alcohol use may diminish the quality of adolescent decision-making and thus have potentially important public health implications. PMID:24676464

  14. Myoblast transplantation between monozygotic twin girl carriers of Duchenne muscular dystrophy.

    PubMed

    Tremblay, J P; Bouchard, J P; Malouin, F; Théau, D; Cottrell, F; Collin, H; Rouche, A; Gilgenkrantz, S; Abbadi, N; Tremblay, M

    1993-01-01

    Monozygotic twin girls, both carriers of Duchenne muscular dystrophy, only one a severe symptomatic carrier and the other asymptomatic due to opposite lyonization, were studied. Myoblast clones were obtained from a muscle biopsy of the asymptomatic carrier. PCR amplification showed that most (94%) of these clones produced normal dystrophin mRNA. Roughly 704 million myoblasts were produced from 119 clones. These myoblasts were transplanted into the extensor carpi radialis (ECR) and in the biceps of one arm of the manifesting carrier while the other arm acted as the control. The strength of the patient was evaluated in a series of pre- and post-tests and a biopsy was obtained about 1 yr after the transplantation. The myoblast injections produced a significant force gain (12%-31%) in wrist extension but no force gain for elbow flexion. Muscle biopsies on the injected and control muscles obtained 1 yr after the injections showed only a small increase in the number of dystrophin positive fibers and the presence of numerous small type II fibers. The small beneficial effect of this transplantation cannot be attributed to immune problems, the donor and the recipient being identical twins, but may be due to a low level of spontaneous muscle regeneration. PMID:8186717

  15. Viruses in the faecal microbiota of monozygotic twins and their mothers.

    PubMed

    Reyes, Alejandro; Haynes, Matthew; Hanson, Nicole; Angly, Florent E; Heath, Andrew C; Rohwer, Forest; Gordon, Jeffrey I

    2010-07-15

    Viral diversity and life cycles are poorly understood in the human gut and other body habitats. Phages and their encoded functions may provide informative signatures of a human microbiota and of microbial community responses to various disturbances, and may indicate whether community health or dysfunction is manifest after apparent recovery from a disease or therapeutic intervention. Here we report sequencing of the viromes (metagenomes) of virus-like particles isolated from faecal samples collected from healthy adult female monozygotic twins and their mothers at three time points over a one-year period. We compared these data sets with data sets of sequenced bacterial 16S ribosomal RNA genes and total-faecal-community DNA. Co-twins and their mothers share a significantly greater degree of similarity in their faecal bacterial communities than do unrelated individuals. In contrast, viromes are unique to individuals regardless of their degree of genetic relatedness. Despite remarkable interpersonal variations in viromes and their encoded functions, intrapersonal diversity is very low, with >95% of virotypes retained over the period surveyed, and with viromes dominated by a few temperate phages that exhibit remarkable genetic stability. These results indicate that a predatory viral-microbial dynamic, manifest in a number of other characterized environmental ecosystems, is notably absent in the very distal intestine. PMID:20631792

  16. Adolescent drinking and motivated decision-making: a cotwin-control investigation with monozygotic twins.

    PubMed

    Malone, Stephen M; Luciana, Monica; Wilson, Sylia; Sparks, Jordan C; Hunt, Ruskin H; Thomas, Kathleen M; Iacono, William G

    2014-07-01

    The present study used a monozygotic (MZ) cotwin-control (CTC) design to investigate associations between alcohol use and performance on the Iowa gambling task (IGT) in a sample of 96 adolescents (half female). The MZ CTC design is well suited to shed light on whether poor decision-making, as reflected on IGT performance, predisposes individuals to abuse substances or is a consequence of use. Participants completed structural MRI scans as well, from which we derived gray matter volumes for cortical and subcortical regions involved in IGT performance and reduced in adolescents with problematic alcohol use. Drinking was associated with poorer task performance and with reduced volume of the left lateral orbital-frontal cortex. CTC analyses indicated that the former was due to differences between members of twin pairs in alcohol use (suggesting a causal effect of alcohol), whereas the latter was due to factors shared by twins (consistent with a pre-existing vulnerability for use). Although these preliminary findings warrant replication, they suggest that normative levels of alcohol use may diminish the quality of adolescent decision-making and thus have potentially important public health implications. PMID:24676464

  17. CD4+ and CD8+ clonal T cell expansions indicate a role of antigens in ankylosing spondylitis; a study in HLA-B27+ monozygotic twins

    PubMed Central

    Duchmann, R; Lambert, C; May, E; Höhler, T; Märker-Hermann, E

    2001-01-01

    Ankylosing spondylitis (AS) is a complex genetic disease in which both MHC and non-MHC genes determine disease susceptibility. To determine whether the T cell repertoires of individuals with AS show signs of increased stimulation by exogenous antigens, CD4+ and CD8+ T cell subsets of five monozygotic HLA-B27+ twins (two concordant and three discordant for AS) and CD8+ T cell repertoires of three healthy HLA-B27+ individuals were characterized by TCR β-chain (TCRB) CDR3 size spectratyping. Selected TCRB-CDR3 spectra were further analysed by BJ-segment analysis and TCRB-CDR3 from expanded T cell clones were sequenced. In an analysis of all data (519/598 possible TCRB-CDR3 spectra), AS was associated with increased T cell oligoclonality in both CD8+ (P = 0·0001) and CD4+ (P = 0·033) T cell subsets. This was also evident when data were compared between individual twins. Nucleotide sequence analysis of expanded CD8+ or CD4+ T cell clones did not show selection for particular TCRB-CDR3 amino acid sequence motifs but displayed sequence homologies with published sequences from intra-epithelial lymphocytes or synovial T cells from rheumatoid arthritis patients. Together, these results provide support for the hypothesis that responses to T cell-stimulating exogenous or endogenous antigens are involved in the induction and/or maintenance of AS. PMID:11207664

  18. MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample

    PubMed Central

    2012-01-01

    Background Atherosclerosis is a complex process involving both genetic and epigenetic factors. The monoamine oxidase A (MAOA) gene regulates the metabolism of key neurotransmitters and has been associated with cardiovascular risk factors. This study investigates whether MAOA promoter methylation is associated with atherosclerosis, and whether this association is confounded by familial factors in a monozygotic (MZ) twin sample. Methods We studied 84 monozygotic (MZ) twin pairs drawn from the Vietnam Era Twin Registry. Carotid intima-media thickness (IMT) was measured by ultrasound. DNA methylation in the MAOA promoter region was quantified by bisulfite pyrosequencing using genomic DNA isolated from peripheral blood leukocytes. The association between DNA methylation and IMT was first examined by generalized estimating equation, followed by matched pair analyses to determine whether the association was confounded by familial factors. Results When twins were analyzed as individuals, increased methylation level was associated with decreased IMT at four of the seven studied CpG sites. However, this association substantially reduced in the matched pair analyses. Further adjustment for MAOA genotype also considerably attenuated this association. Conclusions The association between MAOA promoter methylation and carotid IMT is largely explained by familial factors shared by the twins. Because twins reared together share early life experience, which may leave a long-lasting epigenetic mark, aberrant MAOA methylation may represent an early biomarker for unhealthy familial environment. Clarification of familial factors associated with DNA methylation and early atherosclerosis will provide important information to uncover clinical correlates of disease. PMID:23116433

  19. Population based study of prevalence of islet cell autoantibodies in monozygotic and dizygotic Danish twin pairs with insulin dependent diabetes mellitus.

    PubMed Central

    Petersen, J. S.; Kyvik, K. O.; Bingley, P. J.; Gale, E. A.; Green, A.; Dyrberg, T.; Beck-Nielsen, H.

    1997-01-01

    OBJECTIVE: To study the comparative importance of environment and genes in the development of islet cell autoimmunity associated with insulin dependent diabetes mellitus. DESIGN: Population based study of diabetic twins. SETTING: Danish population. SUBJECTS: 18 monozygotic and 36 dizygotic twin pairs with one or both partners having insulin dependent diabetes. MAIN OUTCOME MEASURES: Presence of islet cell antibodies, insulin autoantibodies, and autoantibodies to glutamic acid decarboxylase (GAD65) in serum samples from twin pairs 10 years (range 0-30 years) and 9.5 years (2-30 years) after onset of disease. RESULTS: In those with diabetes the prevalence of islet cell antibodies, insulin autoantibodies, and autoantibodies to glutamic acid decarboxylase in the 26 monozygotic twins was 38%, 85%, and 92%, respectively, and in the dizygotic twins was 57%, 70%, and 57%, respectively. In those without diabetes the proportions were 20%, 50%, and 40% in the 10 monozygotic twins and 26%, 49%, and 40% in the 35 dizygotic twins. CONCLUSION: There is no difference between the prevalence of islet cell autoantibodies in dizygotic and monozygotic twins without diabetes, suggesting that islet cell autoimmunity is environmentally rather than genetically determined. Furthermore, the prevalence of islet cell antibodies was higher in the non-diabetic twins than in other first degree relatives of patients with insulin dependent diabetes. This implies that the prenatal or early postnatal period during which twins are exposed to the same environment, in contrast with that experienced by first degree relatives, is of aetiological importance. PMID:9169400

  20. Genome-wide methylation study on depression: differential methylation and variable methylation in monozygotic twins

    PubMed Central

    Córdova-Palomera, A; Fatjó-Vilas, M; Gastó, C; Navarro, V; Krebs, M-O; Fañanás, L

    2015-01-01

    Depressive disorders have been shown to be highly influenced by environmental pathogenic factors, some of which are believed to exert stress on human brain functioning via epigenetic modifications. Previous genome-wide methylomic studies on depression have suggested that, along with differential DNA methylation, affected co-twins of monozygotic (MZ) pairs have increased DNA methylation variability, probably in line with theories of epigenetic stochasticity. Nevertheless, the potential biological roots of this variability remain largely unexplored. The current study aimed to evaluate whether DNA methylation differences within MZ twin pairs were related to differences in their psychopathological status. Data from the Illumina Infinium HumanMethylation450 Beadchip was used to evaluate peripheral blood DNA methylation of 34 twins (17 MZ pairs). Two analytical strategies were used to identify (a) differentially methylated probes (DMPs) and (b) variably methylated probes (VMPs). Most DMPs were located in genes previously related to neuropsychiatric phenotypes. Remarkably, one of these DMPs (cg01122889) was located in the WDR26 gene, the DNA sequence of which has been implicated in major depressive disorder from genome-wide association studies. Expression of WDR26 has also been proposed as a biomarker of depression in human blood. Complementarily, VMPs were located in genes such as CACNA1C, IGF2 and the p38 MAP kinase MAPK11, showing enrichment for biological processes such as glucocorticoid signaling. These results expand on previous research to indicate that both differential methylation and differential variability have a role in the etiology and clinical manifestation of depression, and provide clues on specific genomic loci of potential interest in the epigenetics of depression. PMID:25918994

  1. Is growth-discordance in twins a substantial risk factor in adverse neonatal outcomes?

    PubMed

    Frezza, Simonetta; Gallini, Francesca; Puopolo, Maria; De Carolis, Maria P; D'Andrea, Vito; Guidone, Paola I; Luciano, Rita; Zuppa, Antonio A; Romagnoli, Costantino

    2011-10-01

    To evaluate whether growth discordance is an independent risk factor in the neonatal outcome of the smaller twin, all medical records of twin pregnancies delivered between 26 and 41 weeks during a 5-year period (January 2004-December 2008) were reviewed. Among the 49 selected twins, weight discordance was 15-20% in 7 infants, 21-30% in 16 infants, 31-40% in 16 infants and > 40% in 10 infants. No significant differences between the four groups were found with regards to obstetric complications and neonatal disease. Occurrence of birthweight below the 10th percentile and rate of admission to the neonatal intensive care unit significantly increased as intra-pair birthweight difference increased (p = .03). The > 40% discordant group had a significantly lower gestational age (p = .03), lower birthweight (p = .007) and a significantly higher mortality rate (4/10 versus 3/39 p = .04) in comparison with the other discordant groups. Multiple logistic regression analysis showed that birthweight was the single independent and consistent factor associated with elevated risks of mortality. For every 250 g increase in birthweight, the risk for mortality decreased by about 84% [RR 0.16(CI 0.00-0.70)]. Gestational age was the most reliable predictor for major neonatal complications. For every 1-week increase in gestational age a significant decreased risk for all outcomes was found. Discordance alone should not be considered as a predictor for adverse neonatal outcome. Neonatal outcome in discordant twins appears to be related to gestational age and birthweight rather than to the degree of discordance. PMID:21962140

  2. Associations of Mother's and Father's Parenting Practices with Children's Observed Social Reticence in a Competitive Situation: A Monozygotic Twin Difference Study

    ERIC Educational Resources Information Center

    Guimond, Fanny-Alexandra; Brendgen, Mara; Forget-Dubois, Nadine; Dionne, Ginette; Vitaro, Frank; Tremblay, Richard E.; Boivin, Michel

    2012-01-01

    This study used the monozygotic (MZ) twin difference method to examine whether the unique environmental effects of maternal and paternal overprotection and hostility at the age of 30 months predict twins' observed social reticence in a competitive situation in kindergarten, while controlling for the effect of family-wide influences, including…

  3. [Prenatal diagnosis of five cases of monochorionic-diamniotic twins discordant for karyotype analysis].

    PubMed

    Wu, Jianzhu; Zhou, Yi; Lin, Shaobin; Chen, Baojiang; Xie, Yingjun

    2015-10-01

    OBJECTIVE To explore the mechanism and diagnostic method for monochorionic-diamniotic twins discordant for karyotype analysis. METHODS Dual amniocentesis was performed on five pairs of monochorionic-diamniotic twins, which all consisted of a normal twin and one with multiple malformations revealed by ultrasound. Karyotype analysis was performed on amniocytes derived from each of the twins. Zygosity was also determined with DNA extracted from amniocytes with 16 polymorphic microsatellite markers. RESULTS Three cases of 45,X, one case of 47,XX,+9 and one case of 47,XY,+18 were detected among the abnormal twins, while the normal fetuses all had a normal karyotype. DNA analysis suggested that, in all cases, the twins have shared the 16 polymorphic microsatellite markers, which confirmed their monozygosity. CONCLUSION Monochorionic-diamniotic twins may be discordant for karyotyping, for which anaphase lagging, chromosomal non-disjunction and trisomy rescue may be the underlying reasons. As a simple method, dual amniocentesis can be used to obtain amniotic fluid samples for karyotype analysis and determination of zygosity for such twins. PMID:26418994

  4. Gut microbiomes of Malawian twin pairs discordant for kwashiorkor

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Kwashiorkor, an enigmatic form of severe acute malnutrition, is the consequence of inadequate nutrient intake plus additional environmental insults. To investigate the role of the gut microbiome, we studied 317 Malawian twin pairs during the first 3 years of life. During this time, half of the twin ...

  5. Monozygotic and Dizygotic Twins: A Comparative Analysis of Mental Ability Profiles.

    ERIC Educational Resources Information Center

    Segal, Nancy L.

    1985-01-01

    Among a group of 103 children with a mean age of eight years, full-scale IQ correlation was significantly higher for monozygotic than dizygotic pairs. Monozygotic pairs also showed significantly greater concordance for subtest profile than dizygotic pairs. The usefulness of profile analysis is examined, and directions for future research are…

  6. Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR)

    PubMed Central

    Chang, Dong-Gune; Yang, Jae Hyuk; Lee, Jung-Hee; Kim, Young-Hoon; Kim, Jin-Hyok; Suh, Seung-Woo; Ha, Kee-Yong; Suk, Se-Il

    2016-01-01

    Abstract The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term follow-up after posterior vertebral column resection (PVCR) in both identical twins with similar congenital kyphoscoliosis at thoracolumbar levels. Twin I had been noticed by his parents to have asymmetry of his back at age 5 years, but no treatment was given. Twin II was first noticed to have a spinal problem at 11 years of age by his parents. Overtime, spine of both twins became further deviated to the left with kyphosis and was referred to our hospital. Both monozygotic twins were treated by PVCR and satisfactory results were demonstrated at 10-year follow-up. This case is the first report on the surgical treatment with PVCR, almost simultaneously, in both identical twins who had similar congenital vertebral anomalies causing kyphoscoliosis. Both identical twins with congenital kyphoscoliosis had undergone surgical correction by PVCR, anterior support with a mesh cage and posterior fusion using pedicle screws at the age of 14 years and achieved a satisfactory correction and a stable spine without curve progression with 10-year follow-up. PMID:27124052

  7. Differentially Methylated Genomic Regions in Birth-Weight Discordant Twin Pairs.

    PubMed

    Chen, Mubo; Baumbach, Jan; Vandin, Fabio; Röttger, Richard; Barbosa, Eudes; Dong, Mingchui; Frost, Morten; Christiansen, Lene; Tan, Qihua

    2016-03-01

    Poor nutrition during critical growth phases may alter the structural and physiologic development of vital organs thus "programming" the susceptibility to adult-onset diseases and disease-related health conditions. Epigenome-wide association studies have been performed in birth-weight discordant twin pairs to find evidence for such "programming" effects, but no significant results emerged. We further investigated this issue using a new computational approach: Instead of probing single genomic sites for significant alterations in epigenetic marks, we scan for differentially methylated genomic regions. Whole genome DNA methylation levels were measured in whole blood from 150 pairs of adult identical twins discordant for birth-weight. Intrapair differential DNA methylation was associated with qualitative (large or small) and quantitative (percentage) birth-weight discordance at each genomic site using regression models adjusting for age and sex. Based on the regression results, genomic regions with consistent alteration patterns of DNA methylation were located and tested for significant robustness using computational permutation tests. This yielded an interesting genomic region on chromosome 1, which is significantly differentially methylated for quantitative birth-weight discordance. The region covers two genes (TYW3 and CRYZ) both reportedly associated with metabolism. We conclude that prenatal conditions for birth-weight discordance may result in persistent epigenetic modifications potentially affecting even adult health. PMID:26831219

  8. The use of DNA fingerprinting to assess monozygotic twinning in Meishan and Landrace x large white pigs.

    PubMed

    Ashworth, C J; Ross, A W; Barrett, P

    1998-01-01

    The extent of embryo mortality is usually estimated by the difference between the numbers of corpora lutea and embryos in the same animal, which assumes that each corpora lutea represents one potential embryo. Recent observations from the authors' laboratory reveal situations in which the number of embryos exceeds the number of corpora lutea, implicating the presence of identical twins. The objective of the present study was to establish DNA fingerprinting techniques to investigate the prevalence of monozygotic twinning in two breeds of pig. DNA fingerprints of every fetus carried by 6 Meishan (MS) and 6 Landrace x Large White (LxLW) gilts on Day 29 +/- 2 of pregnancy were obtained. Five LxLW and 3 MS litters carried no identical fetuses. The remaining gilts carried a pair of fetuses with indistinguishable DNA profiles. No pairs of fetuses were monochorionic. These results suggest that monozygotic twinning in the pig occurs during embryo cleavage or blastocyst development and may be more prevalent in MS compared with indigenous breeds. PMID:10588379

  9. Perinatal Outcome of Discordant Anomalous Twins: A Single-Center Experience in a Developing Country.

    PubMed

    Fernandes, Tatiana R M M; Carvalho, Paulo R N; Flosi, Fernanda B; Baião, Ana Elisa R; Junior, Sant Claire G

    2016-08-01

    A dramatic increase in twin pregnancies has been observed in the past few decades, primarily related to assisted reproductive techniques (ART) and increased average maternal age during pregnancy. Multiple pregnancies, compared to singleton pregnancies, are associated with greater perinatal morbidity and mortality. The present study evaluated the perinatal outcomes of pregnancies with discordant anomalous twins in a tertiary maternity ward in a developing country. Data were retrospectively collected from the Instituto Fernandes Figueira/FIOCRUZ, Brazil between January 2002 and December 2014. We identified 74 twin pregnancies with discordant anomalous twins. Final data analysis was based on 40 pregnancies. Congenital defects were classified according to the International Classification of Diseases: ICD-10: the digestive system was responsible in 27 (34%) cases; the central nervous system was responsible in 18 (22%) cases; the urinary tract was responsible in 14 (17%) cases; and the circulatory system was responsible in 14 (17%) cases. A total of 19 deaths occurred during the study period, and delivery before 30.4 weeks was a significant prediction of fetal death (p = .01). The presence of hydrops in the affected fetus was related to a higher number of deaths in healthy fetuses and contributed to a worse prognosis. The presence of this condition was the cause of 12 (55.6%) deaths in healthy fetuses. A 10 times higher risk of death of a normal co-twin was observed in cases of death of the anomalous twin (p = .002, OR 10.55, 95% CI: 1.9-58.52). PMID:27321141

  10. Cortex mapping reveals regionally specific patterns of genetic and disease-specific gray-matter deficits in twins discordant for schizophrenia.

    PubMed

    Cannon, Tyrone D; Thompson, Paul M; van Erp, Theo G M; Toga, Arthur W; Poutanen, Veli-Pekka; Huttunen, Matti; Lonnqvist, Jouko; Standerskjold-Nordenstam, Carl-Gustav; Narr, Katherine L; Khaledy, Mohammad; Zoumalan, Chris I; Dail, Rajneesh; Kaprio, Jaakko

    2002-03-01

    The symptoms of schizophrenia imply disruption to brain systems supporting higher-order cognitive activity, but whether these systems are impacted differentially against a background of diffuse cortical gray-matter deficit remains ambiguous. Some unaffected first-degree relatives of schizophrenics also manifest cortical gray-matter deficits, but it is unclear whether these changes are isomorphic with those in patients, and the answer is critical to understanding the neurobiological conditions necessary for disease expression given a predisposing genotype. Here we report three-dimensional cortical surface maps (probabilistic atlases matching subjects' anatomy point by point throughout cortex) in monozygotic (MZ) and dizygotic (DZ) twins discordant for chronic schizophrenia along with demographically matched control twins. A map encoding the average differences between schizophrenia patients and their unaffected MZ co-twins revealed deficits primarily in dorsolateral prefrontal cortex, superior temporal gyrus, and superior parietal lobule. A map encoding variation associated with genetic proximity to a patient (MZ co-twins > DZ co-twins > control twins) isolated deficits primarily in polar and dorsolateral prefrontal cortex. In each case, the statistical significance was confirmed through analysis of 10,000 Monte Carlo permutations, and the remaining cortex was shown to be significantly less affected by contrast analysis. The disease-related deficits in gray matter were correlated with measures of symptom severity and cognitive dysfunction but not with duration of illness or antipsychotic drug treatment. Genetic and disease-specific influences thus affect gray matter in partially nonoverlapping areas of predominantly heteromodal association cortex, changes that may act synergistically in producing overt behavioral features of the disorder. PMID:11867725

  11. Gut DNA viromes of Malawian twins discordant for severe acute malnutrition.

    PubMed

    Reyes, Alejandro; Blanton, Laura V; Cao, Song; Zhao, Guoyan; Manary, Mark; Trehan, Indi; Smith, Michelle I; Wang, David; Virgin, Herbert W; Rohwer, Forest; Gordon, Jeffrey I

    2015-09-22

    The bacterial component of the human gut microbiota undergoes a definable program of postnatal development. Evidence is accumulating that this program is disrupted in children with severe acute malnutrition (SAM) and that their persistent gut microbiota immaturity, which is not durably repaired with current ready-to-use therapeutic food (RUTF) interventions, is causally related to disease pathogenesis. To further characterize gut microbial community development in healthy versus malnourished infants/children, we performed a time-series metagenomic study of DNA isolated from virus-like particles (VLPs) recovered from fecal samples collected during the first 30 mo of postnatal life from eight pairs of mono- and dizygotic Malawian twins concordant for healthy growth and 12 twin pairs discordant for SAM. Both members of discordant pairs were sampled just before, during, and after treatment with a peanut-based RUTF. Using Random Forests and a dataset of 17,676 viral contigs assembled from shotgun sequencing reads of VLP DNAs, we identified viruses that distinguish different stages in the assembly of the gut microbiota in the concordant healthy twin pairs. This developmental program is impaired in both members of SAM discordant pairs and not repaired with RUTF. Phage plus members of the Anelloviridae and Circoviridae families of eukaryotic viruses discriminate discordant from concordant healthy pairs. These results disclose that apparently healthy cotwins in discordant pairs have viromes associated with, although not necessarily mediators, of SAM; as such, they provide a human model for delineating normal versus perturbed postnatal acquisition and retention of the gut microbiota's viral component in populations at risk for malnutrition. PMID:26351661

  12. Gut DNA viromes of Malawian twins discordant for severe acute malnutrition

    PubMed Central

    Reyes, Alejandro; Blanton, Laura V.; Cao, Song; Zhao, Guoyan; Manary, Mark; Trehan, Indi; Smith, Michelle I.; Wang, David; Virgin, Herbert W.; Rohwer, Forest; Gordon, Jeffrey I.

    2015-01-01

    The bacterial component of the human gut microbiota undergoes a definable program of postnatal development. Evidence is accumulating that this program is disrupted in children with severe acute malnutrition (SAM) and that their persistent gut microbiota immaturity, which is not durably repaired with current ready-to-use therapeutic food (RUTF) interventions, is causally related to disease pathogenesis. To further characterize gut microbial community development in healthy versus malnourished infants/children, we performed a time-series metagenomic study of DNA isolated from virus-like particles (VLPs) recovered from fecal samples collected during the first 30 mo of postnatal life from eight pairs of mono- and dizygotic Malawian twins concordant for healthy growth and 12 twin pairs discordant for SAM. Both members of discordant pairs were sampled just before, during, and after treatment with a peanut-based RUTF. Using Random Forests and a dataset of 17,676 viral contigs assembled from shotgun sequencing reads of VLP DNAs, we identified viruses that distinguish different stages in the assembly of the gut microbiota in the concordant healthy twin pairs. This developmental program is impaired in both members of SAM discordant pairs and not repaired with RUTF. Phage plus members of the Anelloviridae and Circoviridae families of eukaryotic viruses discriminate discordant from concordant healthy pairs. These results disclose that apparently healthy cotwins in discordant pairs have viromes associated with, although not necessarily mediators, of SAM; as such, they provide a human model for delineating normal versus perturbed postnatal acquisition and retention of the gut microbiota’s viral component in populations at risk for malnutrition. PMID:26351661

  13. DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.

    PubMed

    Heyn, Holger; Carmona, F Javier; Gomez, Antonio; Ferreira, Humberto J; Bell, Jordana T; Sayols, Sergi; Ward, Kirsten; Stefansson, Olafur A; Moran, Sebastian; Sandoval, Juan; Eyfjord, Jorunn E; Spector, Tim D; Esteller, Manel

    2013-01-01

    Using whole blood from 15 twin pairs discordant for breast cancer and high-resolution (450K) DNA methylation analysis, we identified 403 differentially methylated CpG sites including known and novel potential breast cancer genes. Confirming the results in an independent validation cohort of 21 twin pairs determined the docking protein DOK7 as a candidate for blood-based cancer diagnosis. DNA hypermethylation of the promoter region was also seen in primary breast cancer tissues and cancer cell lines. Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis. PMID:23054610

  14. DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker

    PubMed Central

    Esteller, Manel

    2013-01-01

    Using whole blood from 15 twin pairs discordant for breast cancer and high-resolution (450K) DNA methylation analysis, we identified 403 differentially methylated CpG sites including known and novel potential breast cancer genes. Confirming the results in an independent validation cohort of 21 twin pairs determined the docking protein DOK7 as a candidate for blood-based cancer diagnosis. DNA hypermethylation of the promoter region was also seen in primary breast cancer tissues and cancer cell lines. Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis. PMID:23054610

  15. Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome.

    PubMed

    Akın, Mustafa Ali; Güneş, Tamer; Akın, Leyla; Çoban, Dilek; Oncu, Sena Kara; Kiraz, Aslıhan; Kurtoğlu, Selim

    2011-01-01

    Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3(rd) week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report. PMID:21448332

  16. A Discordant Monozygotic Twin Design Shows Blunted Cortisol Reactivity among Bullied Children

    ERIC Educational Resources Information Center

    Ouellet-Morin, Isabelle; Danese, Andrea; Bowes, Lucy; Shakoor, Sania; Ambler, Antony; Pariante, Carmine M.; Papadopoulos, Andrew S.; Caspi, Avshalom; Moffitt, Terrie E.; Arseneault, Louise

    2011-01-01

    Objective: Childhood adverse experiences are known to engender persistent changes in stress-related systems and brain structures involved in mood, cognition, and behavior in animal models. Uncertainty remains about the causal effect of early stressful experiences on physiological response to stress in human beings, as the impact of these…

  17. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    SciTech Connect

    Wyszynski, D.F. |; Lewanda, A.F. |; Beaty, T.H.

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  18. Genes and Memory: The Neuroanatomical Correlates of Emotional Memory in Monozygotic Twin Discordant for Schizophrenia

    ERIC Educational Resources Information Center

    Fahim, Cherine; Stip, Emmanuel; Mancini-Marie, Adham; Beauregard, Mario

    2004-01-01

    Background: Brain morphology and physiological measures in schizophrenia have yielded inconsistent results. This may be due in part to difficulties in ascertaining precisely to what degree each measure deviates from its genetically and environmentally determined potential level. We attempted to surmount this problem in a paradigm involving…

  19. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa

    PubMed Central

    Balgir, R. S.

    2007-01-01

    -thalassemia (trait) genotypes with identical clinical manifestations and hematological profile of the twin sons under similar environmental conditions, hence they were labeled as identical monozygotic twins. CONCLUSIONS: It is a rare occasion when a single pregnancy carries either one or two abnormal genotypes at a time in a womb in human beings. Monozygotic twins are genetically alike and provide appraisal of the expression of identical genotype under the different environmental conditions. PMID:21957337

  20. Mapping corpus callosum morphology in twin pairs discordant for bipolar disorder.

    PubMed

    Bearden, Carrie E; van Erp, Theo G M; Dutton, Rebecca A; Boyle, Christina; Madsen, Sarah; Luders, Eileen; Kieseppa, Tuula; Tuulio-Henriksson, Annamari; Huttunen, Matti; Partonen, Timo; Kaprio, Jaakko; Lönnqvist, Jouko; Thompson, Paul M; Cannon, Tyrone D

    2011-10-01

    Callosal volume reduction has been observed in patients with bipolar disorder, but whether these deficits reflect genetic vulnerability to the illness remains unresolved. Here, we used computational methods to map corpus callosum abnormalities in a population-based sample of twin pairs discordant for bipolar disorder. Twenty-one probands with bipolar I disorder (mean age 44.4 ± 7.5 years; 48% female), 19 of their non-bipolar co-twins, and 34 demographically matched control twin individuals underwent magnetic resonance imaging. Three-dimensional callosal surface models were created to visualize its morphologic variability and to localize group differences. Neurocognitive correlates of callosal area differences were additionally investigated in a subsample of study participants. Bipolar (BPI) probands, but not their co-twins, showed significant callosal thinning and area reduction, most pronounced in the genu and splenium, relative to healthy twins. Altered callosal curvature was additionally observed in BPI probands. In bipolar probands and co-twins, genu and splenium midsagittal areas were significantly correlated with verbal processing speed and response inhibition. These findings suggest that aberrant connections between cortical regions--possibly reflecting decreased myelination of white matter tracts--may be involved in bipolar pathophysiology. However, findings of callosal thinning appear to be disease related, rather than reflecting genetic vulnerability to bipolar illness. PMID:21383237

  1. Hormone replacement therapy enhances IGF-1 signaling in skeletal muscle by diminishing miR-182 and miR-223 expressions: a study on postmenopausal monozygotic twin pairs

    PubMed Central

    Olivieri, Fabiola; Ahtiainen, Maarit; Lazzarini, Raffaella; Pöllänen, Eija; Capri, Miriam; Lorenzi, Maria; Fulgenzi, Gianluca; Albertini, Maria C; Salvioli, Stefano; Alen, Markku J; Kujala, Urho M; Borghetti, Giulia; Babini, Lucia; Kaprio, Jaakko; Sipilä, Sarianna; Franceschi, Claudio; Kovanen, Vuokko; Procopio, Antonio D

    2014-01-01

    MiRNAs are fine-tuning modifiers of skeletal muscle regulation, but knowledge of their hormonal control is lacking. We used a co-twin case–control study design, that is, monozygotic postmenopausal twin pairs discordant for estrogen-based hormone replacement therapy (HRT) to explore estrogen-dependent skeletal muscle regulation via miRNAs. MiRNA profiles were determined from vastus lateralis muscle of nine healthy 54–62-years-old monozygotic female twin pairs discordant for HRT (median 7 years). MCF-7 cells, human myoblast cultures and mouse muscle experiments were used to confirm estrogen’s causal role on the expression of specific miRNAs, their target mRNAs and proteins and finally the activation of related signaling pathway. Of the 230 miRNAs expressed at detectable levels in muscle samples, qPCR confirmed significantly lower miR-182, miR-223 and miR-142-3p expressions in HRT using than in their nonusing co-twins. Insulin/IGF-1 signaling emerged one common pathway targeted by these miRNAs. IGF-1R and FOXO3A mRNA and protein were more abundantly expressed in muscle samples of HRT users than nonusers. In vitro assays confirmed effective targeting of miR-182 and miR-223 on IGF-1R and FOXO3A mRNA as well as a dose-dependent miR-182 and miR-223 down-regulations concomitantly with up-regulation of FOXO3A and IGF-1R expression. Novel finding is the postmenopausal HRT-reduced miRs-182, miR-223 and miR-142-3p expression in female skeletal muscle. The observed miRNA-mediated enhancement of the target genes’ IGF-1R and FOXO3A expression as well as the activation of insulin/IGF-1 pathway signaling via phosphorylation of AKT and mTOR is an important mechanism for positive estrogen impact on skeletal muscle of postmenopausal women. PMID:25040542

  2. Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease.

    PubMed

    Imamura, A; Miyajima, H; Ito, R; Orii, K O

    2008-10-01

    Four-year-old monozygotic female twins with early onset Tay-Sachs disease are described. The sisters showed similar slowly progressive clinical symptoms and deterioration, however the younger sister also demonstrated intractable myoclonus in the right leg. The serial MR images and (1)H-MR spectroscopy of the brain were obtained in both twins. MR images showed high intensity on T (2)-weighted image in the bilateral white matter, however there were no signal changes in the basal ganglia and thalamus during any of the phases. The ratio of N-acetylaspartate (NAA)/creatine (Cr) was decreased in the both white matter lesions and the corpus striatum, and that of myoinositol (mI)/Cr was increased in the damaged white matter on MR spectroscopy. The elevation of the lactate peak was clearly demonstrated in the left basal ganglia of the younger sister; however it was not shown in cerebral lesions of the elder sister. Changes in metabolites on MR spectroscopy were closely linked to the respective clinical features of each twin. Follow-up examination by (1)H-MR spectroscopy is useful for the evaluation of neuronal changes in children with Tay-Sachs disease. PMID:19294598

  3. The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age

    PubMed Central

    MacArthur, Jacqueline A. L.; Spector, Timothy D.; Lindsay, Sarah J.; Mangino, Massimo; Gill, Raj; Small, Kerrin S.; Hurles, Matthew E.

    2014-01-01

    Nonallelic homologous recombination (NAHR) between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of deletion at the CMT1A-REP NAHR hotspot in sperm DNA from 34 male donors, including 16 monozygotic (MZ) co-twins (8 twin pairs) aged 24 to 67 years old. The average NAHR rate was 3.5×10−5 with a seven-fold variation across individuals. Despite good statistical power to detect even a subtle correlation, we observed no relationship between age of unrelated individuals and the rate of NAHR in their sperm, likely reflecting the meiotic-specific origin of these events. We then estimated the heritability of deletion rate by calculating the intraclass correlation (ICC) within MZ co-twins, revealing a significant correlation between MZ co-twins (ICC = 0.784, p = 0.0039), with MZ co-twins being significantly more correlated than unrelated pairs. We showed that this heritability cannot be explained by variation in PRDM9, a known regulator of NAHR, or variation within the NAHR hotspot itself. We also did not detect any correlation between Body Mass Index (BMI), smoking status or alcohol intake and rate of NAHR. Our results suggest that other, as yet unidentified, genetic or environmental factors play a significant role in the regulation of NAHR and are responsible for the extensive variation in the population for the probability of fathering a child with a genomic disorder resulting from a pathogenic deletion. PMID:24603440

  4. Future hospital care in a population-based series of twin pairs discordant for physical activity behavior.

    PubMed Central

    Kujala, U M; Kaprio, J; Sarna, S; Koskenvuo, M

    1999-01-01

    OBJECTIVES: This study investigated the association between physical activity behavior and morbidity, taking into account genetic selection. METHODS: Hospitalizations were followed from the beginning of 1977 to the end of 1986 in 710 same-sex healthy twin pairs discordant for leisure-time physical activity and in 151 pairs discordant for all physical activity at base-line in 1975. RESULTS: During the follow-up, among twin pairs discordant for leisure activity, the active member spent, on average, 43% fewer days in the hospital than the inactive member; the corresponding percentage was 55% among pairs discordant for all activity. CONCLUSIONS: Physically inactive behavior is associated with increased need for hospital treatments, even after genetic and other confounding factors are taken into account. PMID:10589321

  5. Associations between sleep habits and mental health status and suicidality in a longitudinal survey of monozygotic twin adolescents.

    PubMed

    Matamura, Misato; Tochigi, Mamoru; Usami, Satoshi; Yonehara, Hiromi; Fukushima, Masako; Nishida, Atsushi; Togo, Fumiharu; Sasaki, Tsukasa

    2014-06-01

    Several epidemiological studies have indicated that there is a relationship between sleep habits, such as sleep duration, bedtime and bedtime regularity, and mental health status, including depression and anxiety in adolescents. However, it is still to be clarified whether the relationship is direct cause-and-effect or mediated by the influence of genetic and other traits, i.e. quasi-correlation. To examine this issue, we conducted a twin study using a total of 314 data for monozygotic twins from a longitudinal survey of sleep habits and mental health status conducted in a unified junior and senior high school (grades 7-12), located in Tokyo, Japan. Three-level hierarchical linear model analysis showed that both bedtime and sleep duration had significant associations with the Japanese version of the 12-item General Health Questionnaire (GHQ-12) score, suicidal thoughts and the experience of self-harm behaviours when genetic factors and shared environmental factors, which were completely shared between co-twins, were controlled for. These associations were statistically significant even after controlling for bedtime regularity, which was also associated significantly with the GHQ-12 score. These suggest that the associations between sleep habits and mental health status were still statistically significant after controlling for the influence of genetic and shared environmental factors of twins, and that there may be a direct cause-and-effect in the relationship in adolescents. Thus, late bedtime and short sleep duration could predict subsequent development of depression and anxiety, including suicidal or self-injury risk. This suggests that poor mental health status in adolescents might be improved by health education and intervention concerning sleep and lifestyle habits. PMID:24456111

  6. Discordance

    NASA Astrophysics Data System (ADS)

    Villa, I. M.; Hanchar, J. M.

    2013-12-01

    Half a century ago, discordant U-Pb ages of metamorphic zircon were viewed as Pb loss by diffusion. Various diffusionist schools of thought debated vigorously whether diffusion was episodic or continuous [1], but nobody questioned the reality of diffusive Pb loss. Only imaging by cathodoluminescence (CL) [2] and back-scattered electrons (BSE) [3] brought a paradigm change in U-Pb geochronology. In situ dating shows routinely accretion of young zircon rims onto older cores that never display Pb diffusion gradients across the interface. Other minerals (monazite, xenotime, etc.) show the same pattern: irregular patches of uniform age separated by sharp age gradients coinciding with petrologic boundaries. As U-Pb discordance is caused by diachronous, heterochemical mineral generations, zircon and monazite closure temperatures, and strict diffusionism, are irrelevant [4]. Knowing what to pay attention to, analytical protocols for U-Pb dating include both of the following: (i) CL/BSE characterization of phase mixtures; (ii) mass spectrometric analysis including U/Th ratios (and ideally trace element fingerprinting on the same fraction [5]). It is clear that the petrologic context is just as essential as mass spectrometry for accurate geochronology. The K-Ar community rarely uses imaging, and the tight context between microstructures, mineral chemistry, petrology and geochronology is missed. Yet the data would be clear if one looked for it. CL and/or BSE imaging and X-ray mapping of K-feldspar and micas is finding ubiquitous evidence of discrete patches of juxtaposed mineral generations. The Ca/Cl/K ratios in 39Ar-40Ar dating fulfill the same role as U/Th ratios in U-Pb dating for fingerprinting successive heterochemical mineral generations. Any linear correlation in a common-denominator three-isotope correlation diagram is certain evidence of binary mixing between heterochemical end-members. A correlation in a Ca/K vs Ar/K diagram requires two minerals having different

  7. Childhood verbal development and drinking behaviors from adolescence to young adulthood: A discordant twin pair analysis

    PubMed Central

    Latvala, Antti; Rose, Richard J.; Pulkkinen, Lea; Dick, Danielle M.; Kaprio, Jaakko

    2013-01-01

    Background Studies suggest that better cognitive and verbal abilities in childhood predict earlier experimentation with alcohol and higher levels of drinking in adolescence, whereas poorer ability is related to a higher likelihood of remaining abstinent. Whether individual differences in language development in childhood predict differences in adolescent drinking behaviors has not been studied. Methods To address that question, we compared co-twins from twin pairs discordant for their childhood language development and studied associations of parental reports of within-pair differences in age at speaking words, age at learning to read, and expressive language skills during school age with self-reported within-pair differences in drinking, intoxication, and alcohol-related problems across adolescence and young adulthood. Data from two longitudinal population-based samples of twin families were used, with verbal developmental differences in childhood reported by the parents when the twins were 12 and 16 years, respectively. Results Conditional logistic regression analyses and within-pair correlation analyses suggested positive associations between verbal development and drinking behaviors in both datasets. In analyses adjusted for birth order and birth weight, the co-twin reported to be verbally more advanced in childhood tended to report more frequent drinking and intoxication in adolescence in both samples. Better verbal development also was associated with the likelihood of having friends who drink in adolescence. Conclusions These findings suggest that, adjusting for familial and other factors shared by co-twins, better verbal development in childhood predicts more frequent drinking and intoxication in adolescence and young adulthood, possibly due, in part, to peer associations. PMID:24033677

  8. Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.

    PubMed

    Ragno, Michele; Sanguigni, Sandro; Manca, Antonio; Pianese, Luigi; Paci, Cristina; Berbellini, Alfonso; Cozzolino, Valeria; Gobbato, Roberto; Peluso, Silvio; De Michele, Giuseppe

    2016-06-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common hereditary cerebral small vessel disease, is caused by mutations in the NOTCH3 gene on chromosome 19. Clinical manifestations of CADASIL include recurrent transient ischemic attacks, strokes, cognitive defects, epilepsy, migraine and psychiatric symptoms. Parkinsonian features have variably been reported in CADASIL patients, but only a few patients showed a clear parkinsonian syndrome. We studied two patients, a pair of monozygotic twins, carrying the R1006C mutation of the NOTCH3 gene and affected by a parkinsonian syndrome. For the first time in CADASIL patients, we used transcranial sonography (TCS) to assess basal ganglia abnormalities. TCS showed a bilateral hyperechogenic pattern of substantia nigra in one twin, and a right hyperechogenic pattern in the other. In both patients, lenticular nuclei showed a bilateral hyperechogenic pattern, and the width of the third ventricle was slightly increased. The TCS pattern found in our CADASIL patients is characteristic neither for Parkinson's disease, nor for vascular parkinsonism and seems to be specific and related to the disease-specific pathological features. PMID:26850715

  9. Food supplementation with an olive (Olea europaea L.) leaf extract reduces blood pressure in borderline hypertensive monozygotic twins.

    PubMed

    Perrinjaquet-Moccetti, Tania; Busjahn, Andreas; Schmidlin, Caesar; Schmidt, Annette; Bradl, Barbara; Aydogan, Cem

    2008-09-01

    Hypertension is a harmful disease factor that develops unnoticed over time. The treatment of hypertension is aimed at an early diagnosis followed by adequate lifestyle changes rather than pharmacological treatment. The olive leaf extract EFLA943, having antihypertensive actions in rats, was tested as a food supplement in an open study including 40 borderline hypertensive monozygotic twins. Twins of each pair were assigned to different groups receiving 500 or 1000 mg/day EFLA943 for 8 weeks, or advice on a favourable lifestyle. Body weight, heart rate, blood pressure, glucose and lipids were measured fortnightly. Blood pressure changed significantly within pairs, depending on the dose, with mean systolic differences of < or =6 mmHg (500 mg vs control) and < or =13 mmHg (1000 vs 500 mg), and diastolic differences of < or =5 mmHg. After 8 weeks, mean blood pressure remained unchanged from baseline in controls (systolic/diastolic: 133 +/- 5/77 +/- 6 vs 135 +/- 11/80 +/- 7 mmHg) and the low-dose group (136 +/- 7/77 +/- 7 vs 133 +/- 10/76 +/- 7), but had significantly decreased for the high dose group (137 +/- 10/80 +/- 10 vs 126 +/- 9/76 +/- 6). Cholesterol levels decreased for all treatments with significant dose-dependent within-pair differences for LDL-cholesterol. None of the other parameters showed significant changes or consistent trends. Concluding, the study confirmed the antihypertensive and cholesterol-lowering action of EFLA943 in humans. PMID:18729245

  10. Conjoined twins.

    PubMed

    Pearce, K M; Mohler, C P; Housel, D; Schipul, A H; Crosby, W M

    1995-06-01

    Conjoined twins, otherwise known as Siamese twins, have fascinated physicians and laymen alike for centuries. The minimal diagnostic criteria for conjoined twins is the fusion of some portion of mononuclear or monozygotic twins. PMID:7629608

  11. Pyrosequencing of Plaque Microflora In Twin Children with Discordant Caries Phenotypes

    PubMed Central

    Zhang, Meng; Chen, Yongxing; Xie, Lingzhi; Li, Yuhong; Jiang, Han; Du, Minquan

    2015-01-01

    Despite recent successes in the control of dental caries, the mechanism of caries development remains unclear. To investigate the causes of dental decay, especially in early childhood caries, the supragingival microflora composition of 20 twins with discordant caries phenotypes were analyzed using high-throughput pyrosequencing. In addition, the parents completed a lifestyle questionnaire. A total of 228,789 sequencing reads revealed 10 phyla, 84 genera, and 155 species of microflora, the relative abundances of these strains varied dramatically among the children, Comparative analysis between groups revealed that Veillonella, Corynebacterium and Actinomyces were presumed to be caries-related genera, Fusobacterium, Kingella and Leptotrichia were presumed to be healthy-related genus, yet this six genera were not statistically significant (P>0.05). Moreover, a cluster analysis revealed that the microbial composition of samples in the same group was often dissimilar but that the microbial composition observed in twins was usually similar. Although the genetic and environmental factors that strongly influence the microbial composition of dental caries remains unknown, we speculate that genetic factors primarily influence the individual's susceptibility to dental caries and that environmental factors primarily regulate the microbial composition of the dental plaque and the progression to caries. By using improved twins models and increased sample sizes, our study can be extended to analyze the specific genetic and environmental factors that affect the development of caries. PMID:26524687

  12. Levels of Adipokines in Amniotic Fluid and Cord Blood Collected from Dichorionic-Diamniotic Twins Discordant for Fetal Growth

    PubMed Central

    Park, Joong Shin; Norwitz, Errol R.; Panyavatthanasinh, Sitthysack; Kim, Sun Min; Lee, JoonHo; Park, Chan-Wook; Kim, Byoung Jae; Jun, Jong Kwan

    2016-01-01

    Objective To compare the concentrations of adipokines in amniotic fluid (AF) and cord blood collected from discordant dichorionic-diamniotic (DCDA) twin fetuses. Study Design The study population included DCDA twins discordant for fetal growth (birth weight difference >10%) who either underwent mid-trimester amniocentesis for routine clinical indication (Cohort 1) or whose amniotic fluid was collected at the time of delivery (Cohort 2). In both cohorts, cord blood was collected at delivery. Results A total of 92 twin pairs were enrolled (n = 49 in Cohort 1; n = 43 in Cohort 2). In Cohort 1, the concentrations of adiponectin (median, 68.5 ng/mL vs 61.4 ng/mL; p<0.05) and leptin (median, 13.9 ng/mL vs 11.2 ng/mL; p<0.1) in mid-trimester AF were significantly higher in smaller compared with larger twins. In Cohort 2, the concentration of serpin E1 (median, 246.0 ng/mL vs 182.8 ng/mL; p<0.01) in AF at delivery was significantly higher in smaller twins, but no difference was noted in adiponectin and leptin concentrations. Levels of adiponectin (median, 10425.5 ng/mL vs 11552.0 ng/mL; p<0.005) and leptin (median, 2.1 ng/mL vs 2.6 ng/mL; p<0.005) were significantly lower in the cord blood of smaller twins whereas cord blood concentrations of serpin E1 (median, 15.5 ng/mL vs 13.3 ng/mL; p<0.05) was higher in the smaller twins. Conclusion In discordant DCDA twin pairs, concentrations of adiponectin, leptin, and serpin E1 in mid-trimester AF, AF at delivery, and cord blood at birth vary significantly but predictably between the smaller and larger twins. PMID:27135745

  13. Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.

    PubMed

    Gonzalez-Martin, J A; Kaye, L C; Brown, M; Ellis, I; Appelton, R; Kaye, S B

    2004-06-01

    Identical female twins (age 11 years) with congenital ocular motor apraxia and generalized idiopathic epilepsy are reported. Their presenting symptoms were a long history of abnormal head and eye movements. One twin developed partial sensory seizures. The patients underwent 16-channel EEG, electro-oculographic recordings, MRI of the brain, and genetic and metabolic investigations. EEG findings were consistent with idiopathic generalized epilepsy. Electrooculographic recordings of the saccades confirmed an inability to elicit horizontal saccades without preceding head movement; saccades to the left were better than saccades to the right. MR scans for one twin showed normal findings, however, for the twin who had meningitis they revealed asymmetry between the right and left temporal lobes but no specific abnormality. DNA analysis using a series of autosomal polymorphic markers confirmed the monozygocity of the twins. White blood cell enzyme analysis excluded Sandhoff disease, Tay-Sachs disease, GM1 gangliosidosis, metacromatic leucodystrophy, Gaucher disease, Niemann-Pick disease (A and B), and Krabbe leucodystrophy. Albumin and immunoglobulin (IgA, IgG, and IgM) levels were normal. It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia. PMID:15174536

  14. Chorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and (123)I-beta-CIT-SPECT.

    PubMed

    Müller-Vahl, Kirsten R; Berding, Georg; Emrich, Hinderk M; Peschel, Thomas

    2007-08-01

    We report on two 33 years old monozygotic twins with chorea-acanthocytosis (ChAc) misdiagnosed as schizophrenia and Tourette syndrome, respectively. Although the patients shared several clinical similarities, there were also some clear differences: twin 1 presented initially with an acute episode of a paranoid schizophrenia, while twin 2 suffered from generalized epileptic seizures. In both twins, MRI demonstrated caudate nucleus atrophy and an increased apparent diffusion coefficient (ADC) in the striatum bilaterally with right sided predominance. (18)F-FDG PET showed bilaterally reduced glucose utilization in the striatum with clearly pronounced reduction on the right side compared to the left and in twin 1 compared to twin 2. Ratios of binding to striatal dopamine transporters (DAT) and serotonin transporters in the hypothalamus midbrain area as determined using (123)I-beta-CIT-SPECT fell within the normal ranges. However, in twin 1 a significant difference in binding to presynaptic DAT with marked reduction on the right hemisphere was observed. Right hemispheric accentuated changes measured by MRI, FDG-PET, and (123)I-beta-CITSPECT correspond to more severe hyperkinetic movements on the left part of the body in both twins. Different neuro-psychiatric features in this monocygotic twin pair suggest that not only genetic but also environmental factors contribute to the clinical symptomatology. Our findings suggest that the main neuropathological process in ChAc is located in the striatum, involving microstructural alterations, and disturbance of metabolism and dopaminergic neurotransmission. PMID:17294064

  15. Cultured gut microbiota from twins discordant for obesity modulate adiposity and metabolic phenotypes in mice

    PubMed Central

    Ridaura, Vanessa K.; Faith, Jeremiah J.; Rey, Federico E.; Cheng, Jiye; Duncan, Alexis E.; Kau, Andrew L.; Griffin, Nicholas W.; Lombard, Vincent; Henrissat, Bernard; Bain, James R.; Muehlbauer, Michael J.; Ilkayeva, Olga; Semenkovich, Clay F.; Funai, Katsuhiko; Hayashi, David K.; Lyle, Barbara J.; Martini, Margaret C.; Ursell, Luke K.; Clemente, Jose C.; Van Treuren, William; Walters, William A.; Knight, Rob; Newgard, Christopher B.; Heath, Andrew C.; Gordon, Jeffrey I.

    2013-01-01

    The role of specific gut microbes in shaping body composition remains unclear. We transplanted fecal microbiota from adult female twin pairs discordant for obesity into germ-free mice fed low-fat mouse chow, as well as diets representing different levels of saturated fat and fruit and vegetable consumption typical of the USA. Increased total body and fat mass, as well as obesity-associated metabolic phenotypes were transmissible with uncultured fecal communities, and with their corresponding fecal bacterial culture collections. Co-housing mice harboring an obese twin’s microbiota (Ob) with mice containing the lean co-twin’s microbiota (Ln) prevented the development of increased body mass and obesity-associated metabolic phenotypes in Ob cagemates. Rescue correlated with invasion of specific members of Bacteroidetes from the Ln microbiota into Ob microbiota, and was diet-dependent. These findings reveal transmissible, rapid and modifiable effects of diet-by-microbiota interactions. PMID:24009397

  16. A twin study on age-related macular degeneration.

    PubMed Central

    Meyers, S M

    1994-01-01

    A prospective twin study on age-related macular degeneration (AMD) recruited 83 monozygotic pairs, 28 dizygotic pairs, and one triplet set from 1986 through 1993. Zygosity was determined by genetic testing of red cell markers, HLA antigens, or specific DNA loci. There were no twin pairs in which I collected data on only one twin. To decrease ascertainment bias, after 1991 the recruitment notice did not mention AMD, and I did not ask about a history of eye disease before the eye examination. Because of this, twin pairs recruited from 1986 through 1991 were statistically analyzed separately from those after January 1, 1992. From 1986 through 1991, 23 twin pairs were recruited; 11 monozygotic and 2 dizygotic pairs had nonAMD retinal changes or no retinal abnormalities, 9 monozygotic pairs with AMD were all concordant, and 1 dizygotic pair was discordant for basal laminar drusen. The concordance rate of AMD did not differ significantly between monozygotic and dizygotic twin pairs (P = .10) for 1986 through 1991. In 1992 and 1993, 88 twin pairs and one triplet set were recruited; 49 monozygotic and 19 dizygotic pairs had nonAMD retinal changes or no retinal abnormalities, 14 monozygotic pairs with AMD were all concordant, and 2 of 7 dizygotic pairs were concordant for AMD. The nonidentical triplets (1 with and 2 without AMD) were categorized as one of the discordant dizygotic pairs in the statistical evaluation. In nontwin age-matched (within 2 or 5 years of age) or age- and sex-matched sibling pairs the concordance rate of AMD ranged from 16% to 25%. The concordance rate of AMD was significantly higher in monozygotic than in dizygotic twins (P = .001) for 1992 and 1993. The concordance rate was higher for monozygotic twin pairs recruited in 1992 and 1993 than in any of the four subsets of nontwin age-method or age- and sex-matched sibling pairs (P < .0001). Overall, from 1986 through 1993, 23 of 23 monozygotic and 2 of 8 dizygotic twin pairs were concordant for AMD

  17. Fragile X syndrome and the (CGG)[sub n] mutation: Two families with discordant MZ twins

    SciTech Connect

    Kruyer, H.; Estivill, X.; Mila, M.; Ballesta, F.; Glover, G.; Carbonell, P. )

    1994-03-01

    The fragile X phenotype has been found, in the majority of cases, to be due to the expansion of a CGG repeat in the 5'UTR region of the FMR-1 gene, accompanied by methylation of the adjacent CpG island and inactivation of the FMR-1 gene. Although several important aspects of genetics of fragile X have been resolved, it remains to be elucidated at which stage in development the transition from the premutation to the full mutation occurs. The authors present two families in which discordance between two sets of MZ twins illustrates two important genetic points. In one family, two affected MZ brothers differed in the number of CGG repeats, demonstrating in vivo mitotic instability of this CGG repeat and suggesting that the transition to the full mutation occurred postzygotically. In the second family, two MZ sisters had the same number of repeats, but only one was mentally retarded. When the methylation status of the FMR-1 CpG island was studied, the authors found that the majority of normal chromosomes had been inactivated in the affected twin, thus leading to the expression of the fragile X phenotype. 29 refs., 3 figs., 1 tab.

  18. Phenotypic variability of R117H-CFTR expression within monozygotic twins.

    PubMed

    Waller, Michael D; Simmonds, Nicholas J

    2016-08-01

    Whilst cystic fibrosis is a monogenic condition, variation in phenotype exists for the same CFTR genotype, which is influenced by multiple genetic and non-genetic (environmental) factors. The R117H-CFTR mutation has variability directly relating to in cis poly-thymidine alleles, producing a differing spectrum of disease. This paper provides evidence of extreme phenotype variability - including fertility status - in the context of male monogenetic twins, discussing mechanisms and highlighting the diagnostic and treatment challenges. PMID:27364092

  19. Insights From Twin Research: Conference at Royal Childrens Hospital, Melbourne, Australia / Twin Studies: Timing of Monozygotic Splitting and Commentary; Gestational Diabetes; ICOMBO'S Post-Partum Depression Study; Photographs of Conjoined Twins / Human Interest: Rare Quadruplets; Mistaken Identity on the Soccer Field; Prenatal Laser Surgery on Triplets; Twins Born to Prince and Princess of Monaco.

    PubMed

    Segal, Nancy L

    2015-04-01

    Highlights from a conference, 'Healthier Kids: Insights From Twin Research', held in Melbourne, Australia on December 5, 2014, are summarized. In addition to informative and exciting presentations and discussions of recent findings, three key themes emerged: (1) results from twin research have important implications for non-twins, (2) researchers from diverse disciplines should be encouraged to participate actively in twin research, and (3) investigators, twins and families need to work more collaboratively. Next, papers and studies concerning the biological bases of monozygotic (MZ) twinning, gestational diabetes and post-partum depression are reviewed. Finally, general interest reports of rare quadruplets, mistaken identity, prenatal laser surgery and a royal twin birth are provided. PMID:25740114

  20. Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR): A Case Report.

    PubMed

    Chang, Dong-Gune; Yang, Jae Hyuk; Lee, Jung-Hee; Kim, Young-Hoon; Kim, Jin-Hyok; Suh, Seung-Woo; Ha, Kee-Yong; Suk, Se-Il

    2016-04-01

    The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term follow-up after posterior vertebral column resection (PVCR) in both identical twins with similar congenital kyphoscoliosis at thoracolumbar levels. Twin I had been noticed by his parents to have asymmetry of his back at age 5 years, but no treatment was given. Twin II was first noticed to have a spinal problem at 11 years of age by his parents. Overtime, spine of both twins became further deviated to the left with kyphosis and was referred to our hospital. Both monozygotic twins were treated by PVCR and satisfactory results were demonstrated at 10-year follow-up.This case is the first report on the surgical treatment with PVCR, almost simultaneously, in both identical twins who had similar congenital vertebral anomalies causing kyphoscoliosis. Both identical twins with congenital kyphoscoliosis had undergone surgical correction by PVCR, anterior support with a mesh cage and posterior fusion using pedicle screws at the age of 14 years and achieved a satisfactory correction and a stable spine without curve progression with 10-year follow-up. PMID:27124052

  1. Cognitive deficits and magnetic resonance spectroscopy in adult monozygotic twins with lead poisoning.

    PubMed Central

    Weisskopf, Marc G; Hu, Howard; Mulkern, Robert V; White, Roberta; Aro, Antonio; Oliveira, Steve; Wright, Robert O

    2004-01-01

    Seventy-one-year-old identical twin brothers with chronic lead poisoning were identified from an occupational medicine clinic roster. Both were retired painters, but one brother (J.G.) primarily removed paint and had a history of higher chronic lead exposure. Patella and tibia bone lead concentrations measured by K-X-ray fluorescence in each brother were 5-10 times those of the general population and about 2.5 times higher in J.G. than in his brother (E.G.). Magnetic resonance spectroscopy (MRS) studies examined N-acetylaspartate:creatine ratios, a marker of neuronal density. Ratios were lower in J.G. than in his brother. Scores on neurocognitive tests that assess working memory/executive function were below expectation in both twins. Short-term memory function was dramatically worse in J.G. than in his brother. These results demonstrate some of the more subtle long-term neurologic effects of chronic lead poisoning in adults. In particular, they suggest the presence of frontal lobe dysfunction in both twins, but more dramatic hippocampal dysfunction in the brother with higher lead exposure. The MRS findings are consistent with the hypothesis that chronic lead exposure caused neuronal loss, which may contribute to the impairment in cognitive function. Although a causal relation cannot be inferred, the brothers were genetically identical, with similar life experiences. Although these results are promising, further study is necessary to determine whether MRS findings correlate both with markers of lead exposure and tests of cognitive function. Nevertheless, the results point to the potential utility of MRS in determining mechanisms of neurotoxicity not only for lead but also for other neurotoxicants as well. PMID:15064171

  2. Celiac disease with Evans syndrome and isolated immune thrombocytopenia in monozygotic twins: a rare association.

    PubMed

    Roganovic, Jelena

    2016-04-01

    Celiac disease is a multisystem immune-mediated disorder caused by exposure to dietary gluten in genetically predisposed individuals. The clinical presentation is characterized by a multitude and diversity of symptoms and complications. The coexistence of celiac disease with other autoimmune disorders has been established, most frequently with type 1 diabetes mellitus and autoimmune thyroiditis. The association of celiac disease with immune-mediated hematologic conditions has been rarely reported. This case study describes a pair of identical twin sisters with celiac disease associated with Evans syndrome in one sibling, and with isolated immune thrombocytopenia in the other. PMID:27312169

  3. The impact of a consortium of fermented milk strains on the gut microbiome of gnotobiotic mice and monozygotic twins

    PubMed Central

    McNulty, Nathan P.; Yatsunenko, Tanya; Hsiao, Ansel; Faith, Jeremiah J.; Muegge, Brian D.; Goodman, Andrew L.; Henrissat, Bernard; Oozeer, Raish; Cools-Portier, Stéphanie; Gobert, Guillaume; Chervaux, Christian; Knights, Dan; Lozupone, Catherine A.; Knight, Rob; Duncan, Alexis E.; Bain, James R.; Muehlbauer, Michael J.; Newgard, Christopher B.; Heath, Andrew C.; Gordon, Jeffrey I.

    2012-01-01

    Understanding how the human gut microbiota and host are impacted by probiotic bacterial strains requires carefully controlled studies in humans and in mouse models of the gut ecosystem where potentially confounding variables that are difficult to control in humans can be constrained. Therefore, we characterized the fecal microbiomes and metatranscriptomes of adult female monozygotic twin pairs through repeated sampling 4 weeks prior to, 7 weeks during, and 4 weeks following consumption of a commercially available fermented milk product (FMP) containing a consortium of Bifidobacterium animalis subsp. lactis, two strains of Lactobacillus delbrueckii subsp. bulgaricus, Lactococcus lactis subsp. cremoris, and Streptococcus thermophilus. In addition, gnotobiotic mice harboring a 15-species model human gut microbiota whose genomes contain 58,399 known or predicted protein-coding genes were studied prior to and after gavage with all five sequenced FMP strains. No significant changes in bacterial species composition or in the proportional representation of genes encoding known enzymes were observed in the feces of humans consuming the FMP. Only minimal changes in microbiota configuration were noted in mice following single or repeated gavage with the FMP consortium. However, RNA-Seq analysis of fecal samples and follow-up mass spectrometry of urinary metabolites disclosed that introducing the FMP strains into mice results in significant changes in expression of microbiome-encoded enzymes involved in numerous metabolic pathways, most prominently those related to carbohydrate metabolism. B. animalis subsp. lactis, the dominant persistent member of the FMP consortium in gnotobiotic mice, upregulates a locus in vivo that is involved in the catabolism of xylooligosaccharides, a class of glycans widely distributed in fruits, vegetables and other foods, underscoring the importance of these sugars to this bacterial species. The human fecal metatranscriptome exhibited significant

  4. The impact of a consortium of fermented milk strains on the gut microbiome of gnotobiotic mice and monozygotic twins.

    PubMed

    McNulty, Nathan P; Yatsunenko, Tanya; Hsiao, Ansel; Faith, Jeremiah J; Muegge, Brian D; Goodman, Andrew L; Henrissat, Bernard; Oozeer, Raish; Cools-Portier, Stéphanie; Gobert, Guillaume; Chervaux, Christian; Knights, Dan; Lozupone, Catherine A; Knight, Rob; Duncan, Alexis E; Bain, James R; Muehlbauer, Michael J; Newgard, Christopher B; Heath, Andrew C; Gordon, Jeffrey I

    2011-10-26

    Understanding how the human gut microbiota and host are affected by probiotic bacterial strains requires carefully controlled studies in humans and in mouse models of the gut ecosystem where potentially confounding variables that are difficult to control in humans can be constrained. Therefore, we characterized the fecal microbiomes and metatranscriptomes of adult female monozygotic twin pairs through repeated sampling 4 weeks before, 7 weeks during, and 4 weeks after consumption of a commercially available fermented milk product (FMP) containing a consortium of Bifidobacterium animalis subsp. lactis, two strains of Lactobacillus delbrueckii subsp. bulgaricus, Lactococcus lactis subsp. cremoris, and Streptococcus thermophilus. In addition, gnotobiotic mice harboring a 15-species model human gut microbiota whose genomes contain 58,399 known or predicted protein-coding genes were studied before and after gavage with all five sequenced FMP strains. No significant changes in bacterial species composition or in the proportional representation of genes encoding known enzymes were observed in the feces of humans consuming the FMP. Only minimal changes in microbiota configuration were noted in mice after single or repeated gavage with the FMP consortium. However, RNA-Seq analysis of fecal samples and follow-up mass spectrometry of urinary metabolites disclosed that introducing the FMP strains into mice results in significant changes in expression of microbiome-encoded enzymes involved in numerous metabolic pathways, most prominently those related to carbohydrate metabolism. B. animalis subsp. lactis, the dominant persistent member of the FMP consortium in gnotobiotic mice, up-regulates a locus in vivo that is involved in the catabolism of xylooligosaccharides, a class of glycans widely distributed in fruits, vegetables, and other foods, underscoring the importance of these sugars to this bacterial species. The human fecal metatranscriptome exhibited significant changes

  5. Simultaneous subependymomas in monozygotic female twins: further evidence for a common genetic or developmental disorder background.

    PubMed

    Noell, Susan; Beschorner, Rudi; Bisdas, Sotirios; Beyer, Ulrike; Weber, Ruthild G; Fallier-Becker, Petra; Ritz, Rainer

    2014-09-01

    In this paper, a rare case of subependymoma of the fourth ventricle in identical female twins is reported. Magnetic resonance imaging and CT showed nearly identical locations of the tumors in the fourth ventricle and similar growth patterns of the tumors in both sisters. Likewise, postoperative histopathological analysis of both tumors revealed the typical histological appearance of subependymomas. Subependymoma is a rare, low-grade glioma of the CNS, slowly growing and usually asymptomatic. If symptomatic, a subependymoma can in some cases lead to sudden death caused by pressure on the brainstem or decompensated secondary hydrocephalus. This case demonstrates the importance of detecting tumors early and thereby preventing symptoms arising from increasing intracranial pressure, and optimizing therapy options. PMID:24655099

  6. Dermatoglyphics in relation to brain volumes in twins concordant and discordant for bipolar disorder.

    PubMed

    Vonk, R; van der Schot, A C; van Baal, G C M; van Oel, C J; Nolen, W A; Kahn, R S

    2014-12-01

    Palmar and finger dermatoglyphics are formed between the 10th and the 17th weeks of gestation and their morphology can be influenced by genetic or environmental factors, interfering with normal intrauterine development. As both the skin and the brain develop from the same embryonal ectoderm, dermatoglyphic alterations may be informative for early abnormal neurodevelopmental processes in the brain. We investigated whether dermatoglyphic alterations are related to structural brain abnormalities in bipolar disorder and to what extent they are of a genetic and of an environmental origin. Dermatoglyphics and volumetric data from structural MRI were obtained in 53 twin pairs concordant or discordant for bipolar disorder and 51 healthy matched control twin pairs. Structural equation modeling was used. Bipolar disorder was significantly positively associated with palmar a-b ridge count (ABRC), indicating higher ABRC in bipolar patients (rph=.17 (CI .04-.30)). Common genes appear to be involved because the genetic correlation with ABRC was significant (rph-A=.21 (CI .05-.36). Irrespective of disease, ABRC showed a genetically mediated association with brain volume, indicated by a significant genetic correlation rph-A of respectively -.36 (CI -.52 to -.22) for total brain, -.34 (CI -.51 to -.16) total cortical volume, -.27 (CI -.43 to -.08) cortical gray matter and -.23 (CI -.41 to -.04) cortical white matter. In conclusion, a genetically determined abnormal development of the foetal ectoderm between the 10th and 15th week of gestation appears related to smaller brain volumes in (subjects at risk for) bipolar disorder. PMID:25451699

  7. A review of the mechanisms and evidence for typical and atypical twinning.

    PubMed

    McNamara, Helen C; Kane, Stefan C; Craig, Jeffrey M; Short, Roger V; Umstad, Mark P

    2016-02-01

    The mechanisms responsible for twinning and disorders of twin gestations have been the subject of considerable interest by physicians and scientists, and cases of atypical twinning have called for a reexamination of the fundamental theories invoked to explain twin gestations. This article presents a review of the literature focusing on twinning and atypical twinning with an emphasis on the phenomena of chimeric twins, phenotypically discordant monozygotic twins, mirror-image twins, polar body twins, complete hydatidiform mole with a coexistent twin, vanishing twins, fetus papyraceus, fetus in fetu, superfetation, and superfecundation. The traditional models attributing monozygotic twinning to a fission event, and more recent models describing monozygotic twinning as a fusion event, are critically reviewed. Ethical restrictions on scientific experimentation with human embryos and the rarity of cases of atypical twinning have limited opportunities to elucidate the exact mechanisms by which these phenomena occur. Refinements in the modeling of early embryonic development in twin pregnancies may have significant clinical implications. The article includes a series of figures to illustrate the phenomena described. PMID:26548710

  8. Speech tempo and fundamental frequency patterns: a case study of male monozygotic twins and an age- and sex-matched sibling.

    PubMed

    Whiteside, Sandra P; Rixon, Emma

    2013-12-01

    This case study describes an investigation into the speaking characteristics of a set of male monozygotic (MZ) twins (T1 and T2) and an age- and sex-matched sibling (S). Measures of speech tempo and fundamental frequency (F0) were analysed in the speech samples of a reading passage. Results showed significant between-sibling differences for sentence durations and F0 parameters; however, Euclidean distance (ED) measures revealed the smallest distances between the F0 parameters of the MZ twins. The smallest ED values were also observed between T1 and T2 for word durations, pause durations, all-voiced sample durations, and all the all-voiced sample F0 parameters. Greater similarities were observed across all three siblings for the speech tempo and dynamic F0 parameters. PMID:23194081

  9. Associations of mother's and father's parenting practices with children's observed social reticence in a competitive situation: a monozygotic twin difference study.

    PubMed

    Guimond, Fanny-Alexandra; Brendgen, Mara; Forget-Dubois, Nadine; Dionne, Ginette; Vitaro, Frank; Tremblay, Richard E; Boivin, Michel

    2012-04-01

    This study used the monozygotic (MZ) twin difference method to examine whether the unique environmental effects of maternal and paternal overprotection and hostility at the age of 30 months predict twins' observed social reticence in a competitive situation in kindergarten, while controlling for the effect of family-wide influences, including genetic and shared environmental factors, family socio-economical status and twin's birth weight. It was also examined whether these associations are moderated by parental depressive symptoms. Participants were 137 MZ twin pairs who were part of an ongoing longitudinal study. Hierarchical linear regressions revealed that differences in maternal and paternal overprotection predicted differences in twins' social reticence, albeit only in boys. Differences in paternal hostile parenting predicted differences in girls' reticent behavior, but only when fathers showed high levels of depressive symptoms. Hence, overprotected boys, as well as girls confronted with father's hostility and depressive symptoms, may tend to withdraw rather than face the challenge when experiencing difficult social situations such as competition. The results from the present study suggest that targeting maladaptive maternal as well as paternal child-rearing practices and psychopathology early on may be useful for reducing later internalizing behavior in the offspring. PMID:21947581

  10. Frequent Extreme Cold Exposure and Brown Fat and Cold-Induced Thermogenesis: A Study in a Monozygotic Twin

    PubMed Central

    Vosselman, Maarten J.; Vijgen, Guy H. E. J.; Kingma, Boris R. M.; Brans, Boudewijn; van Marken Lichtenbelt, Wouter D.

    2014-01-01

    Introduction Mild cold acclimation is known to increase brown adipose tissue (BAT) activity and cold-induced thermogenesis (CIT) in humans. We here tested the effect of a lifestyle with frequent exposure to extreme cold on BAT and CIT in a Dutch man known as ‘the Iceman’, who has multiple world records in withstanding extreme cold challenges. Furthermore, his monozygotic twin brother who has a ‘normal’ sedentary lifestyle without extreme cold exposures was measured. Methods The Iceman (subject A) and his brother (subject B) were studied during mild cold (13°C) and thermoneutral conditions (31°C). Measurements included BAT activity and respiratory muscle activity by [18F]FDG-PET/CT imaging and energy expenditure through indirect calorimetry. In addition, body temperatures, cardiovascular parameters, skin perfusion, and thermal sensation and comfort were measured. Finally, we determined polymorphisms for uncoupling protein-1 and β3-adrenergic receptor. Results Subjects had comparable BAT activity (A: 1144 SUVtotal and B: 1325 SUVtotal), within the range previously observed in young adult men. They were genotyped with the polymorphism for uncoupling protein-1 (G/G). CIT was relatively high (A: 40.1% and B: 41.9%), but unlike during our previous cold exposure tests in young adult men, here both subjects practiced a g-Tummo like breathing technique, which involves vigorous respiratory muscle activity. This was confirmed by high [18F]FDG-uptake in respiratory muscle. Conclusion No significant differences were found between the two subjects, indicating that a lifestyle with frequent exposures to extreme cold does not seem to affect BAT activity and CIT. In both subjects, BAT was not higher compared to earlier observations, whereas CIT was very high, suggesting that g-Tummo like breathing during cold exposure may cause additional heat production by vigorous isometric respiratory muscle contraction. The results must be interpreted with caution given the low

  11. Twins and transsexualism: an update and a preview; research reviews: conjoined twins, angiographic lesions, single versus double embryo transfer; headlines: school placement legislation, Junior Taekwondo Olympics, prosthetic ears, murder victim.

    PubMed

    Segal, Nancy L

    2007-12-01

    In recent years, there has been growing appreciation for the complexity of gender identity. Focusing on monozygotic (MZ) twins discordant for transsexualism can offer clues to events that may trigger this behavioral difference, offering new information about critical underlying factors. An update of twin research in this area is provided, together with a preview of a compelling new film, 'Red Without Blue.' Next, twin study findings on the topics of conjoined twinning, angiographic lesions and embryo transfer are provided. This is followed by a survey of newsworthy twins and twin-related events. PMID:18179403

  12. Methylation matters? Decreased methylation status of genomic DNA in the blood of schizophrenic twins.

    PubMed

    Bönsch, Dominikus; Wunschel, Michael; Lenz, Bernd; Janssen, Gesa; Weisbrod, Matthias; Sauer, Heinrich

    2012-08-15

    Studies of schizophrenia inheritance in identical twins show a concordance of about 50%, which supports an epigenetic model. In our present study we investigated methylation of genomic DNA and promoter methylation of Reelin and SOX10 genes in peripheral blood of twins suffering from schizophrenia. Global DNA methylation was reduced (52.3%) in schizophrenic twins if compared with healthy control twins (65.7%). The reduced methylation was significant in males only. We also found a similar hypomethylation in the non-affected twins of discordant pairs and a mixed group of psychiatric controls. In discordant twins there was a relative hypermethylation of the SOX10 promoter. Within-pair-difference of methylation of Reelin promoter was significantly lower in monozygotic twins than in dizygotic twins. PMID:23102571

  13. Oligoclonality in the human CD8+ T cell repertoire in normal subjects and monozygotic twins: implications for studies of infectious and autoimmune diseases.

    PubMed Central

    Monteiro, J.; Hingorani, R.; Choi, I. H.; Silver, J.; Pergolizzi, R.; Gregersen, P. K.

    1995-01-01

    BACKGROUND: We have previously demonstrated CD8+ T cell clonal dominance using a PCR assay for the CDR3 length of T cell receptors belonging to a limited number of TCRBV segments/families. In this study, we have modified this approach in order to analyze more comprehensively the frequency of oligoclonality in the CD8+ T cell subset in 25 known TCRBV segments/families. In order to assess the relative roles of genes and environment in the shaping of a clonally restricted CD8+ T cell repertoire, we have analyzed clonal dominance in the CD8+ T cell population of monozygotic twins, related siblings, and adoptees. MATERIALS AND METHODS: Oligoclonality was assessed in the CD8+ T cell subsets using a multiplex PCR approach to assay for CDR3 length variation across 25 different TCRBV segments/families. Specific criteria for oligoclonality were established, and confirmed by direct sequence analysis of the PCR products. This assay was used to investigate the CD8+ T cell repertoire of 56 normal subjects, as well as six sets of monozygotic (MZ) twins. RESULTS: Seventy-two percent of normal subjects (n = 56) had evidence of oligoclonality in the CD8+ T cell subset, using well-defined criteria. Although MZ twins frequently displayed CD8+ T cell clonal dominance, the overall pattern of oligoclonality was very diverse within each twin pair. However, we occasionally observed dominant CD8+ T cell clones that were highly similar in sequence in both members of some twin pairs. Not a single example of such similarity was observed in normal controls or siblings. CONCLUSIONS: Oligoclonality of circulating CD8+ T cells is a characteristic feature of the human immune system; both host genetic factors and environment shape the pattern of oligoclonality in this T cell subset. The high frequency of this phenomenon in normal subjects provides a background with which to evaluate CD8+ T cell oligoclonality in the setting of infection or autoimmune disease. Further phenotypic and functional

  14. Clones in the Classroom: A Daily Diary Study of the Nonshared Environmental Relationship Between Monozygotic Twin Differences in School Experience and Achievement

    PubMed Central

    Asbury, Kathryn; Almeida, David; Hibel, Jacob; Harlaar, Nicole; Plomin, Robert

    2010-01-01

    Do genetically identical children experience the same classroom differently? Are nonshared classroom experiences associated with differences in achievement? We designed a telephone diary measure which we administered every school day for 2 weeks to 122 10-year-olds in 61 monozygotic (MZ) twin pairs. Each pair shared genes, a classroom, peers and a teacher. We found that MZ twins did experience their classrooms differently (rMZ < 0.65 for all measures of classroom experience). Furthermore, MZ differences in peer problems were significantly associated with MZ differences in Mathematics achievement (ES = 8%); differences in positivity about school were significantly associated with differences in Mathematics (ES = 15%) and Science (ES = 8%) achievement; and differences in ‘flow’ in Science lessons were associated with differences in Science achievement (ES = 12%). In a multiple regression analysis, MZ differences in positivity about school significantly predicted MZ differences in Mathematics achievement (R2 = 0.16, p < .01) and MZ differences in ‘flow’ in Science significantly predicted MZ differences in Science achievement (R2 = 0.10, p < .05). These results indicate that MZ twins experience the classroom differently and that differences in their experience are associated with differences in their achievement. PMID:19016614

  15. Clones in the classroom: a daily diary study of the nonshared environmental relationship between monozygotic twin differences in school experience and achievement.

    PubMed

    Asbury, Kathryn; Almeida, David; Hibel, Jacob; Harlaar, Nicole; Plomin, Robert

    2008-12-01

    Do genetically identical children experience the same classroom differently? Are nonshared classroom experiences associated with differences in achievement? We designed a telephone diary measure which we administered every school day for 2 weeks to 122 10-year-olds in 61 monozygotic (MZ) twin pairs. Each pair shared genes, a classroom, peers and a teacher. We found that MZ twins did experience their classrooms differently (rMZ < 0.65 for all measures of classroom experience). Furthermore, MZ differences in peer problems were significantly associated with MZ differences in Mathematics achievement (ES = 8%); differences in positivity about school were significantly associated with differences in Mathematics (ES = 15%) and Science (ES = 8%) achievement; and differences in 'flow' in Science lessons were associated with differences in Science achievement (ES = 12%). In a multiple regression analysis, MZ differences in positivity about school significantly predicted MZ differences in Mathematics achievement (R2 = 0.16, p < .01) and MZ differences in 'flow' in Science significantly predicted MZ differences in Science achievement (R2 = 0.10, p < .05). These results indicate that MZ twins experience the classroom differently and that differences in their experience are associated with differences in their achievement. PMID:19016614

  16. Total and Trimester-Specific Gestational Weight Gain and Offspring Birth and Early Childhood Weight: A Prospective Cohort Study on Monozygotic Twin Mothers and Their Offspring.

    PubMed

    Scheers Andersson, Elina; Silventoinen, Karri; Tynelius, Per; Nohr, Ellen A; Sørensen, Thorkild I A; Rasmussen, Finn

    2016-08-01

    Gestational weight gain (GWG) has in numerous studies been associated with offspring birth weight (BW) and childhood weight. However, these associations might be explained by genetic confounding as offspring inherit their mother's genetic potential to gain weight. Furthermore, little is known about whether particular periods of pregnancy could influence offspring body weight differently. We therefore aimed to explore total and trimester-specific effects of GWG in monozygotic (MZ) twin mother-pairs on their offspring's BW, weight at 1 year and body mass index (BMI) at 5 and 10 years. MZ twin mothers born 1962-1975 were identified in national Swedish registers, and data on exposure and outcome variables was collected from medical records. We analyzed associations within and between twin pairs. We had complete data on the mothers' GWG and offspring BW for 82 pairs. The results indicated that total, and possibly also second and third trimester GWG were associated with offspring BW within the twin pairs in the fully adjusted model (β = 0.08 z-score units, 95% CI: 0.001, 0.17; β = 1.32 z-score units, 95% CI: -0.29, 2.95; and β = 1.02 z-score units, 95% CI: -0.50, 2.54, respectively). Our findings, although statistically weak, suggested no associations between GWG and offspring weight or BMI during infancy or childhood. Our study suggests that total, and possibly also second and third trimester, GWG are associated with offspring BW when taking shared genetic and environmental factors within twin pairs into account. Larger family-based studies with long follow-up are needed to confirm our findings. PMID:27161254

  17. Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.

    PubMed

    Hansen, Marcus C; Nyvold, Charlotte G; Roug, Anne S; Kjeldsen, Eigil; Villesen, Palle; Nederby, Line; Hokland, Peter

    2015-05-01

    We describe a comprehensive molecular analysis of a pair of monozygotic twins, who came to our attention when one experienced amaurosis fugax and was diagnosed with JAK2+ polycythaemia vera. He (Twin A) was also found to have an asymptomatic B-cell chronic lymphocytic leukaemia (B-CLL). Although JAK2-, Twin B was subsequently shown to have a benign monoclonal B-cell lymphocytosis (MBL). Flow cytometric and molecular analyses of the B-cell compartments revealed different immunoglobulin light and heavy chain usage in each twin. We hypothesized that whole exome sequencing could help delineating the pattern of germline B-cell disorder susceptibility and reveal somatic mutations potentially contributing to the differential patterns of pre-malignancy. Comparing bone marrow cells and T cells and employing in-house engineered integrative analysis, we found aberrations in Twin A consistent with a myeloid neoplasm, i.e. in TET2, RUNX1, PLCB1 and ELF4. Employing the method for detecting high-ranking variants by extensive annotation and relevance scoring, we also identified shared germline variants in genes of proteins interacting with B-cell receptor signalling mediators and the WNT-pathway, including IRF8, PTPRO, BCL9L, SIT1 and SIRPB1, all with possible implications in B-cell proliferation. Similar patterns of IGHV-gene usage to those demonstrated here have been observed in inherited acute lymphoblastic leukaemia. Collectively, these findings may help in facilitating identification of putative master gene(s) involved in B-cell proliferations in general and MBL and B-CLL in particular. PMID:25752595

  18. Motives for and barriers to physical activity in twin pairs discordant for leisure time physical activity for 30 years.

    PubMed

    Aaltonen, S; Leskinen, T; Morris, T; Alen, M; Kaprio, J; Liukkonen, J; Kujala, U

    2012-02-01

    Long-term persistent physical activity is important in the prevention of chronic diseases, but a large number of people do not participate in physical activity to obtain health benefits. The purpose of this study was to examine the motives and perceived barriers to long-term engagement in leisure time physical activity. Same-sex twin pairs (N=16, mean age 60) discordant for physical activity over 30 years were identified from the Finnish Twin Cohort. We evaluated participants' physical activity motivation with the 73-item Recreational Exercise Motivation Measure and assessed barriers to physical activity with a 25-item questionnaire. The characteristics of physical activity motivation and perceived barriers between the active and inactive co-twins were analysed using paired tests. Motives related to the sub-dimensions of enjoyment and physical fitness and psychological state were the most important reasons for participation in physical activity among all the twin individuals analysed. The sub-dimensions mastery (p=0.018, Cohen's d=0.76), physical fitness (p=0.029, Cohen's d=0.69), and psychological state (p=0.039, Cohen's d=0.65) differed significantly between active and inactive co-twins. More than half of the participants reported no reasons for not being physically active. If reasons existed, participation in physical activity was deterred mostly by pain and various health problems. This study found no differences in perceived barriers between active and inactive co-twins. We conclude from our results that the main factors promoting persistent leisure time physical activity were participants' wish to improve or maintain their physical skills or techniques, a feeling that exercise would improve their mental and physical health and that they found the activity enjoyable. This study helps us understand the importance of the role of motives and the minor role of perceived barriers for engagement in persistent physical activity. PMID:22318531

  19. Erythrocyte sodium-lithium countertransport and blood pressure in identical twin pairs discordant for insulin dependent diabetes.

    PubMed Central

    Hardman, T. C.; Dubrey, S. W.; Leslie, D. G.; Hafiz, M.; Noble, M. I.; Lant, A. F.

    1992-01-01

    OBJECTIVE--To investigate whether insulin dependent diabetes is responsible for the abnormal behaviour of the carrier in sodium-lithium countertransport and whether the diabetic state is associated with rise in blood pressure. DESIGN--Case-control study. SETTING--London teaching hospital. SUBJECTS--44 twin pairs discordant for insulin dependent diabetes living in United Kingdom and 44 healthy control subjects matched for age, sex, and body mass index. None of the twin pairs or the controls had evidence of microalbuminuria. MAIN OUTCOME MEASURES--Sodium-lithium countertransport activity in erythrocytes and arterial blood pressure. RESULTS--The mean (95% confidence interval) sodium-lithium countertransport activity (mmol Li per litre of red blood cells per h) of the diabetic twins (0.291 (0.244 to 0.338)) was similar to that of their non-diabetic cotwins (0.247 (0.204 to 0.290)); both values were significantly higher than that of the controls (0.187 (0.157 to 0.216); p < 0.05). In addition, systolic blood pressure was higher in those twins with diabetes (127 (122 to 133) mm Hg) than in the non-diabetic cotwins (122 (117 to 127) mm Hg; p < 0.01). There were no significant differences in mean diastolic blood pressure between any of the groups studied. CONCLUSIONS--The raised erythrocyte sodium-lithium countertransport activity in the diabetic twins compared with the controls seems to be inherited rather than a consequence of overt diabetes. The higher systolic blood pressure in diabetic twins than non-diabetic cotwins indicates that insulin dependent diabetes does exert a small influence on systolic blood pressure. PMID:1392822

  20. Combination of hormone replacement therapy and high physical activity is associated with differences in Achilles tendon size in monozygotic female twin pairs.

    PubMed

    Finni, T; Kovanen, V; Ronkainen, P H A; Pöllänen, E; Bashford, G R; Kaprio, J; Alén, M; Kujala, U M; Sipilä, S

    2009-04-01

    Estrogen concentration has been suggested to play a role in tendon abnormalities and injury. In physically active postmenopausal women, hormone replacement therapy (HRT) has been suggested to decrease tendon diameter. We hypothesized that HRT use and physical activity are associated with Achilles tendon size and tissue structure. The study applied cotwin analysis of fourteen 54- to 62-yr-old identical female twin pairs with current discordance for HRT use for an average of 7 yr. Achilles tendon thickness and cross-sectional areas were determined by ultrasonography, and tendon structural organization was analyzed from the images using linear discriminant analysis (LDA). Maximal voluntary and twitch torques from plantar flexor muscles were measured. Serum levels of estradiol, estrone, testosterone, and sex hormone binding globulin were analyzed. Total daily metabolic equivalent score (MET-h/day) was calculated from physical activity questionnaires. Results showed that, in five physically active (MET > 4) pairs, the cotwins receiving HRT had greater estradiol level (P = 0.043) and smaller tendon cross-sectional area than their sisters (63 vs. 71 mm(2), P = 0.043). Among all pairs, Achilles tendon thickness and cross-sectional area did not significantly differ between HRT using and nonusing twin sisters. Intrapair correlation for Achilles tendon thickness was high, despite HRT use discordance (r = 0.84, P < 0.001). LDA distinguished different tendon structure only from two of six examined twin pairs who had a similar level of physical activity. In conclusion, the effect of HRT on Achilles tendon characteristics independent of genetic confounding may be present only in the presence of sufficient physical activity. In physically active twin pairs, the higher level of estrogen seems to be associated with smaller tendon size. PMID:19164771

  1. Exaggerated Activation of Dorsal Anterior Cingulate Cortex During Cognitive Interference: A Monozygotic Twin Study of Posttraumatic Stress Disorder

    PubMed Central

    Shin, Lisa M.; Bush, George; Milad, Mohammed R.; Lasko, Natasha B.; Brohawn, Kathryn Handwerger; Hughes, Katherine C.; Macklin, Michael L.; Gold, Andrea L.; Karpf, Rachel D.; Orr, Scott P.; Rauch, Scott L.; Pitman, Roger K.

    2013-01-01

    Objective Neuroimaging studies have revealed functional abnormalities in the anterior cingulate cortex in posttraumatic stress disorder (PTSD). The goal of the current research was to determine whether hyperresponsivity of the dorsal anterior cingulate in PTSD is an acquired characteristic or familial risk factor. Method Using a case-control twin design, we studied combat-exposed veterans with PTSD (n=12) and their identical combat-unexposed co-twins (n=12), as well as combat-exposed veterans without PTSD (n=14) and their identical combat-unexposed co-twins (n=14). Participants underwent functional magnetic resonance imaging during completion of the Multi-Source Interference Task, which reliably activates the dorsal anterior cingulate. Results Combat veterans with PTSD and their co-twins had significantly greater activation in the dorsal anterior cingulate and tended to have larger response time difference scores, as compared to non-PTSD veterans and their co-twins. Dorsal anterior cingulate activation in the exposed twins was positively correlated with their PTSD symptom severity. Dorsal anterior cingulate activation in the unexposed twins was positively correlated with their combat-exposed co-twins’ PTSD symptom severity, but not with depression or alcohol use severity in the combat-exposed co-twins. Conclusions Hyperresponsivity in the dorsal anterior cingulate appears to be a familial risk factor for the development of PTSD following psychological trauma. PMID:21724666

  2. Within-pair differences in a-b ridge count asymmetry in monozygotic twins: evidence for a placental proximity effect.

    PubMed

    Bogle, A C; Reed, T; Norton, J A

    1994-01-01

    Asymmetry of a-b ridge count, a dermatoglyphic trait in the second interdigital (ID II) palmar area was studied in 314 identical (MZ) twin-pairs of known placental type. Statistically significant differences were observed for the variability of a-b ridge count with respect to placentation. Monochorionic MZ pairs displayed more within-pair variability than dichorionic MZ twins. Within dichorionic pairs, greater variability was observed in MZ twins when pairs with fused placentas were compared with those with separate placentas. A similar pattern of greater variability in dichorionic fused versus dichorionic separate placentas was also found in 121 same sex dizygotic twin-pairs. The pattern of within-pair differences was consistent with a placental proximity effect like that known for the variability in birth weight in twins. PMID:8039800

  3. Behavioral versus genetic determination of lipoproteins andidentical twins discordant for exercise

    SciTech Connect

    Williams, Paul T.; Blanche, Patricia J.; Krauss, Ronald M.

    2004-06-01

    Lipoprotein and weight differences between vigorously active and sedentary MZ twins are used to: (1) estimate the effects of training while controlling for genotype; (2) estimate genetic concordance in the presence of divergent lifestyles.

  4. Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.

    PubMed

    Quaio, C R; Koda, Y K; Bertola, D R; Sukalo, M; Zenker, M; Kim, C A

    2014-01-01

    Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene. JBS can be easily recognized by its unique clinical presentation (including exocrine pancreatic insufficiency, hypoplasia/aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, growth retardation, psychomotor retardation, and anal and genitourinary anomalies). The objective of this study is to report on the first familial case of gender-discordant twins presenting JBS and a novel mutation in the UBR1 gene. We also review literature describing molecularly confirmed cases of JBS. The female twin developed refractory severe diarrhea after the second month of life and died at the age of 3 months. The male twin also developed diarrhea and failure to thrive after the 3 month of life but improved when nutrition support and pancreatic enzyme replacement was started, and he has survived into adolescence. Both patients presented typical clinical features of JBS. A homozygous nonsense mutation (c.3682C>T; p.Q1228X) in UBR1 was confirmed. Severe presentation of JBS usually involves deleterious (nonsense, frameshift, or splice-site) mutations in the UBR1 gene that are thought to completely abolish the expression of a functional protein product, as in this familial case; however, milder presentation of JBS has occasionally been observed with missense mutations in at least 1 of the 2 copies of UBR1, in which there may be residual activity of the product of this gene. Early diagnosis and adequate treatment are crucial for a favorable outcome. PMID:25036160

  5. Person-Specific Non-shared Environmental Influences in Intra-individual Variability: A Preliminary Case of Daily School Feelings in Monozygotic Twins.

    PubMed

    Zheng, Yao; Molenaar, Peter C M; Arden, Rosalind; Asbury, Kathryn; Almeida, David M

    2016-09-01

    Most behavioural genetic studies focus on genetic and environmental influences on inter-individual phenotypic differences at the population level. The growing collection of intensive longitudinal data in social and behavioural science offers a unique opportunity to examine genetic and environmental influences on intra-individual phenotypic variability at the individual level. The current study introduces a novel idiographic approach and one novel method to investigate genetic and environmental influences on intra-individual variability by a simple empirical demonstration. Person-specific non-shared environmental influences on intra-individual variability of daily school feelings were estimated using time series data from twenty-one pairs of monozygotic twins (age = 10 years, 16 female pairs) over two consecutive weeks. Results showed substantial inter-individual heterogeneity in person-specific non-shared environmental influences. The current study represents a first step in investigating environmental influences on intra-individual variability with an idiographic approach, and provides implications for future behavioural genetic studies to examine developmental processes from a microscopic angle. PMID:27040685

  6. Clonal origins of ETV6-RUNX1⁺ acute lymphoblastic leukemia: studies in monozygotic twins.

    PubMed

    Alpar, D; Wren, D; Ermini, L; Mansur, M B; van Delft, F W; Bateman, C M; Titley, I; Kearney, L; Szczepanski, T; Gonzalez, D; Ford, A M; Potter, N E; Greaves, M

    2015-04-01

    Studies on twins with concordant acute lymphoblastic leukemia (ALL) have revealed that ETV6-RUNX1 gene fusion is a common, prenatal genetic event with other driver aberrations occurring subclonally and probably postnatally. The fetal cell type that is transformed by ETV6-RUNX1 is not identified by such studies or by the analysis of early B-cell lineage phenotype of derived progeny. Ongoing, clonal immunoglobulin (IG) and cross-lineage T-cell receptor (TCR) gene rearrangements are features of B-cell precursor leukemia and commence at the pro-B-cell stage of normal B-cell lineage development. We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be informative about the fetal cell type in which clonal advantage is elicited by ETV6-RUNX1. Five pairs of twins were analyzed for all varieties of IG and TCR gene rearrangements. All pairs showed identical incomplete or complete variable-diversity-joining junctions coupled with substantial, subclonal and divergent rearrangements. This pattern was endorsed by single-cell genetic scrutiny in one twin pair. Our data suggest that the pre-leukemic initiating function of ETV6-RUNX1 fusion is associated with clonal expansion early in the fetal B-cell lineage. PMID:25388957

  7. Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia.

    PubMed

    Ma, Yussanne; Dobbins, Sara E; Sherborne, Amy L; Chubb, Daniel; Galbiati, Marta; Cazzaniga, Giovanni; Micalizzi, Concetta; Tearle, Rick; Lloyd, Amy L; Hain, Richard; Greaves, Mel; Houlston, Richard S

    2013-04-30

    Acute lymphoblastic leukemia (ALL) is the major pediatric cancer. At diagnosis, the developmental timing of mutations contributing critically to clonal diversification and selection can be buried in the leukemia's covert natural history. Concordance of ALL in monozygotic, monochorionic twins is a consequence of intraplacental spread of an initiated preleukemic clone. Studying monozygotic twins with ALL provides a unique means of uncovering the timeline of mutations contributing to clonal evolution, pre- and postnatally. We sequenced the whole genomes of leukemic cells from two twin pairs with ALL to comprehensively characterize acquired somatic mutations in ALL, elucidating the developmental timing of all genetic lesions. Shared, prenatal, coding-region single-nucleotide variants were limited to the putative initiating lesions. All other nonsynonymous single-nucleotide variants were distinct between tumors and, therefore, secondary and postnatal. These changes occurred in a background of noncoding mutational changes that were almost entirely discordant in twin pairs and likely passenger mutations acquired during leukemic cell proliferation. PMID:23569245

  8. A twin approach to unraveling epigenetics

    PubMed Central

    Bell, Jordana T.; Spector, Tim D.

    2011-01-01

    The regulation of gene expression plays a pivotal role in complex phenotypes, and epigenetic mechanisms such as DNA methylation are essential to this process. The availability of next-generation sequencing technologies allows us to study epigenetic variation at an unprecedented level of resolution. Even so, our understanding of the underlying sources of epigenetic variability remains limited. Twin studies have played an essential role in estimating phenotypic heritability, and these now offer an opportunity to study epigenetic variation as a dynamic quantitative trait. High monozygotic twin discordance rates for common diseases suggest that unexplained environmental or epigenetic factors could be involved. Recent genome-wide epigenetic studies in disease-discordant monozygotic twins emphasize the power of this design to successfully identify epigenetic changes associated with complex traits. We describe how large-scale epigenetic studies of twins can improve our understanding of how genetic, environmental and stochastic factors impact upon epigenetics, and how such studies can provide a comprehensive understanding of how epigenetic variation affects complex traits. PMID:21257220

  9. Hormone replacement therapy improves contractile function and myonuclear organization of single muscle fibres from postmenopausal monozygotic female twin pairs

    PubMed Central

    Qaisar, Rizwan; Renaud, Guillaume; Hedstrom, Yvette; Pöllänen, Eija; Ronkainen, Paula; Kaprio, Jaakko; Alen, Markku; Sipilä, Sarianna; Artemenko, Konstantin; Bergquist, Jonas; Kovanen, Vuokko; Larsson, Lars

    2013-01-01

    Ageing is associated with a decline in muscle mass and strength leading to increased physical dependency in old age. Postmenopausal women experience a greater decline than men of similar age in parallel with the decrease in female sex steroid hormone production. We recruited six monozygous female twin pairs (55–59 years old) where only one twin pair was on hormone replacement therapy (HRT use = 7.8 ± 4.3 years) to investigate the association of HRT with the cytoplasmic volume supported by individual myonuclei (myonuclear domain (MND) size,) together with specific force at the single fibre level. HRT use was associated with a significantly smaller (∼27%; P < 0.05) mean MND size in muscle fibres expressing the type I but not the IIa myosin heavy chain (MyHC) isoform. In comparison to non-users, higher specific force was recorded in HRT users both in muscle fibres expressing type I (∼27%; P < 0.05) and type IIa (∼23%; P < 0.05) MyHC isoforms. These differences were fibre-type dependent, i.e. the higher specific force in fast-twitch muscle fibres was primarily caused by higher force per cross-bridge while slow-twitch fibres relied on both a higher number and force per cross-bridge. HRT use had no effect on fibre cross-sectional area (CSA), velocity of unloaded shortening (V0) and relative proportion of MyHC isoforms. In conclusion, HRT appears to have significant positive effects on both regulation of muscle contraction and myonuclei organization in postmenopausal women. PMID:23459759

  10. Causal Inference and Observational Research: The Utility of Twins

    PubMed Central

    McGue, Matt; Osler, Merete; Christensen, Kaare

    2011-01-01

    Valid causal inference is central to progress in theoretical and applied psychology. Although the randomized experiment is widely considered the gold standard for determining whether a given exposure increases the likelihood of some specified outcome, experiments are not always feasible and in some cases can result in biased estimates of causal effects. Alternatively, standard observational approaches are limited by the possibility of confounding, reverse causation, and the nonrandom distribution of exposure (i.e., selection). We describe the counterfactual model of causation and apply it to the challenges of causal inference in observational research, with a particular focus on aging. We argue that the study of twin pairs discordant on exposure, and in particular discordant monozygotic twins, provides a useful analog to the idealized counterfactual design. A review of discordant-twin studies in aging reveals that they are consistent with, but do not unambiguously establish, a causal effect of lifestyle factors on important late-life outcomes. Nonetheless, the existing studies are few in number and have clear limitations that have not always been considered in interpreting their results. It is concluded that twin researchers could make greater use of the discordant-twin design as one approach to strengthen causal inferences in observational research. PMID:21593989

  11. Common immune-related exposures/conditions and risk of non-Hodgkin lymphoma: a case-control study of disease-discordant twin pairs.

    PubMed

    Wang, Jun; Mack, Thomas M; Hamilton, Ann S; Hwang, Amie E; Nathwani, Bharat N; Masood, Kamil; Buchanan, Laura H; Bernstein, Leslie; Deapen, Dennis M; Martínez-Maza, Otoniel; Cozen, Wendy

    2015-09-01

    We evaluated the association between common immune system-altering experiences and non-Hodgkin lymphoma (NHL) risk using a case-control study of 162 like-sex twin pairs discordant for NHL, identified from the International Twin Study. Information on medical history and evidence of childhood exposure to microbes was obtained by questionnaire from 1998 to 2002. Conditional logistic regression was used to estimate odds ratios and 95% confidence intervals. Intra-twin-pair agreement between twins on individual exposures was high (76%-97%). A negative association between NHL and seasonal hay fever (odds ratio (OR) = 0.28, 95% confidence interval (CI): 0.10, 0.75) and certain allergies (OR = 0.29, 95% CI: 0.13, 0.68) was observed. The number of atopic diseases was negatively associated with NHL (P for trend = 0.0003). A history of infectious mononucleosis was negatively associated with NHL risk (OR = 0.35, 95% CI: 0.14, 0.90). NHL risk was associated with more frequent childhood exposure to microbes during early life (P for trend = 0.04). No differences in association by NHL subtype were observed, although statistical power for these comparisons was low. These observations support the hypothesis that immune-related exposures, especially atopy, are associated with decreased NHL risk. Use of the within-twin-pair study design mitigates confounding by genome, family structure, and unmeasured characteristics of early childhood factors. PMID:26271116

  12. The value of twins in epigenetic epidemiology.

    PubMed

    Bell, Jordana T; Saffery, Richard

    2012-02-01

    During past decades, twin studies have played an important role in genetic epidemiology studies of complex traits. The strength of twin studies lies in the ability to disentangle genetic and environmental factors that contribute to a phenotype, by comparing genetically identical monozygotic twins to dizygotic twins, who share on average 50% of genetic variants. Twin studies now offer the opportunity to study epigenetic variation across the genome with two aims. First, twin studies can improve our understanding of the factors regulating epigenetic variability by assessing the heritability of epigenetic variants. Secondly, the use of twins in epigenetic research is increasingly recognized as an important approach to help unravel the complexities associated with human development and disease. The strategic use of identical twins discordant for complex disease has revealed the importance of linking epigenetic disruption to the disease-associated risk in humans. Lastly, we also discuss the possibility that epigenetic effects on disease may in part explain some of the missing heritability in genome-wide association studies. The study of human epigenetic factors in twins can inform the role of genetics, as well as in utero and postnatal environments to the establishment, maintenance and functional consequences of human epigenome variation. PMID:22253312

  13. Effects of 32-year leisure time physical activity discordance in twin pairs on health (TWINACTIVE study): aims, design and results for physical fitness.

    PubMed

    Leskinen, Tuija; Waller, Katja; Mutikainen, Sara; Aaltonen, Sari; Ronkainen, Paula H A; Alén, Markku; Sipilä, Sarianna; Kovanen, Vuokko; Perhonen, Merja; Pietiläinen, Kirsi H; Cheng, Sulin; Suominen, Harri; Kainulainen, Heikki; Kaprio, Jaakko; Kujala, Urho M

    2009-02-01

    The physically active lifestyle is associated with low future morbidity and mortality, but the causality between physical activity and health is not always clear. As some inherited biological characteristics and childhood experiences may cause selection bias in observational studies, we sought to take them into account by identifying 16 twin pairs (7 MZ, 9 DZ, mean age 60 years) discordant for leisure time physical activity habits for thirty years. We conducted detailed health-related examinations among these twin pairs. Our main aims were to study the effects of physical activity and genes on fitness and body composition, with special reference to body fat compartments, metabolic syndrome components and related diseases and risk factor levels, status of arteries, structure and function of the heart, bone properties, and muscle and fat tissue-related mechanisms linked to physical activity and chronic disease development. Our physical activity assessments showed that inactive co-twins were on average 8.8 MET hours/day less active than their active co-twins through out their midlife (2.2+/-2.3 vs. 11.0+/-4.1 MET h/day, p< .001). Follow-up fitness tests showed that physically inactive co-twins were less fit than their active co-twins (estimated VO(2peak) 26.4+/-4.9 vs. 32.5+/-5.5 ml/kg/min, p< .001). Similar differences were found in both MZ and DZ pairs. On the basis of earlier epidemiological observations on nonrelated individuals, these physical activity and fitness differences are large enough to cause differences in many mechanisms and risk factors related to the development of chronic diseases and to permit future analyses. PMID:19210186

  14. Twins and Siblings: Concordance for School-Age Mental Development

    ERIC Educational Resources Information Center

    Wilson, Ronald S.

    1977-01-01

    The analysis of WISC scores for 314 school-age twins and 221 of their siblings revealed high concordance of full-scale and verbal IQ for monozygotic twins. The IQ concordance for dizygotic twins, twin-sibling pairs, and sibling pairs were comparable to each other but significantly lower than that for monozygotic twins. (Author/JMB)

  15. The Syntactic Abilities of Identical Twins, Fraternal Twins, and Their Siblings

    ERIC Educational Resources Information Center

    Munsinger, Harry; Douglass, Arthur, II

    1976-01-01

    The language development of monozygotic twins, same-sex dizygotic twins, siblings of monozygotic twins, and siblings of dizygotic twins, ages 3-17, was studied to estimate how much of the individual variation in children's language skills results from genetic factors and how much from environmental experience. (BRT)

  16. Monozygotic transplantation: Concerns and Opportunities

    PubMed Central

    N, Krishnan; PM, Buchanan; N, Dzebisashvili; H, Xiao; MA, Schnitzler; DC, Brennan

    2008-01-01

    We describe the case of a 24 year-old female with end stage renal disease from focal segmental glomerulosclerosis (FSGS) diagnosed at age 16, who underwent monozygotic triplet transplantation at age 21 from her sister. Monozygosity was established by buccal smear DNA PCR amplification using short tandem repeat (1) profiling for 16 genetic alleles. All immunosuppression was discontinued by one-month post-transplant. To evaluate the use of immunosuppression in HLA identical monozygotic transplantation, we interrogated the OPTN (Organ Procurement Transplant Network) database for all transplants conducted from 1987–2006. We identified 194 probable identical twin transplantations based on age, gender, race, ethnic category, blood type and HLA match. We evaluated the use of various immunosuppressive agents at discharge, 6-months and 1, 2, and 3 years after transplantation. Seventy one percent of these patients at discharge and 34% at the end of one-year were on immunosuppression. At discharge 61% received steroids and 30% received calcineurin-inhibitors and 66% of these remained on calcineurin-inhibitors at one-year. Renal function was superior among those not maintained on immunosuppression. Thus, monozygotic transplantation confers an immunologic advantage that allows immunosuppression elimination despite a risk of recurrent glomerular disease such as FSGS with appropriate evaluation and management. PMID:18808409

  17. Differences in Muscle and Adipose Tissue Gene Expression and Cardio-Metabolic Risk Factors in the Members of Physical Activity Discordant Twin Pairs

    PubMed Central

    Leskinen, Tuija; Rinnankoski-Tuikka, Rita; Rintala, Mirva; Seppänen-Laakso, Tuulikki; Pöllänen, Eija; Alen, Markku; Sipilä, Sarianna; Kaprio, Jaakko; Kovanen, Vuokko; Rahkila, Paavo; Orešič, Matej; Kainulainen, Heikki; Kujala, Urho M.

    2010-01-01

    High physical activity/aerobic fitness predicts low morbidity and mortality. Our aim was to identify the most up-regulated gene sets related to long-term physical activity vs. inactivity in skeletal muscle and adipose tissues and to obtain further information about their link with cardio-metabolic risk factors. We studied ten same-sex twin pairs (age range 50–74 years) who had been discordant for leisure-time physical activity for 30 years. The examinations included biopsies from m. vastus lateralis and abdominal subcutaneous adipose tissue. RNA was analyzed with the genome-wide Illumina Human WG-6 v3.0 Expression BeadChip. For pathway analysis we used Gene Set Enrichment Analysis utilizing active vs. inactive co-twin gene expression ratios. Our findings showed that among the physically active members of twin pairs, as compared to their inactive co-twins, gene expression in the muscle tissue samples was chronically up-regulated for the central pathways related to energy metabolism, including oxidative phosphorylation, lipid metabolism and supportive metabolic pathways. Up-regulation of these pathways was associated in particular with aerobic fitness and high HDL cholesterol levels. In fat tissue we found physical activity-associated increases in the expression of polyunsaturated fatty acid metabolism and branched-chain amino acid degradation gene sets both of which associated with decreased ‘high-risk’ ectopic body fat and plasma glucose levels. Consistent with other findings, plasma lipidomics analysis showed up-regulation of the triacylglycerols containing the polyunsaturated fatty acids. Our findings identified skeletal muscle and fat tissue pathways which are associated with the long-term physical activity and reduced cardio-metabolic disease risk, including increased aerobic fitness. In particular, improved skeletal muscle oxidative energy and lipid metabolism as well as changes in adipocyte function and redistribution of body fat are associated with

  18. A Study of Developmental Speech and Language Disorders in Twins.

    ERIC Educational Resources Information Center

    Lewis, Barbara A.; Thompson, Lee A.

    1992-01-01

    Fifty-seven same-sex twin sets (32 monozygotic and 25 dizygotic) were examined for concordance of speech and language disorders. Monozygotic twins had a higher concordance than dizygotic twins and also were more similar in the types of disorders they presented than dizygotic twins. Positive family histories were reported for both groups.…

  19. Retinal Microvessels Reflect Familial Vulnerability to Psychotic Symptoms: A Comparison of Twins Discordant for Psychotic Symptoms and Controls

    PubMed Central

    Meier, Madeline H.; Gillespie, Nathan A.; Hansell, Narelle K.; Hewitt, Alex W.; Hickie, Ian B.; Lu, Yi; McGrath, John; MacGregor, Stuart; Medland, Sarah E.; Sun, Cong; Wong, Tien Y.; Wright, Margaret J.; Zhu, Gu; Martin, Nicholas G.; Mackey, David A.

    2015-01-01

    Mounting evidence suggests that individuals with schizophrenia have an underlying vulnerability to cardiovascular disease, and a recent study suggested that this vulnerability might be reflected in the retinal microvasculature. The purpose of this study was to test the hypothesis that the retinal microvessels reflect familial vulnerability to psychotic symptoms. Participants were 531 adolescent and young adult twins who took part in the Brisbane Longitudinal Twin Study and the Twins Eye Study in Tasmania. The twins had photographs taken of their retina when they were adolescents or young adults (M age=20.6 years), and retinal vessel diameter was assessed using computer software. The twins completed an assessment of psychosis symptoms approximately six years later. We compared retinal venular diameters of individuals with one or more symptoms of psychosis (n=45), their unaffected co-twins (n=24), and controls (n=462). Individuals with one or more symptoms of psychosis had wider venules (standardized mean=0.29) than controls (standardized mean=-0.04; p=.03), and unaffected co-twins had venular diameters that were intermediate (standardized mean=0.13) between the two groups, suggesting that wide venules may represent a proxy marker of familial vulnerability to psychosis symptoms. Consistent with previous work, there were no differences in arteriolar diameter between individuals with and without symptoms of psychosis. Findings suggest that wide retinal venules may serve as a proxy marker of familial liability to psychosis symptoms. The pathophysiological mechanisms linking psychosis and cardiovascular disease may be operative from early in life, possibly at the level of the microvasculature. PMID:25694186

  20. CNV Concordance in 1,097 MZ Twin Pairs.

    PubMed

    Abdellaoui, Abdel; Ehli, Erik A; Hottenga, Jouke-Jan; Weber, Zachary; Mbarek, Hamdi; Willemsen, Gonneke; van Beijsterveldt, Toos; Brooks, Andrew; Hudziak, Jim J; Sullivan, Patrick F; de Geus, Eco J; Davies, Gareth E; Boomsma, Dorret I

    2015-02-01

    Monozygotic (MZ) twins are genetically identical at conception, making them informative subjects for studies on somatic mutations. Copy number variants (CNVs) are responsible for a substantial part of genetic variation, have relatively high mutation rates, and are likely to be involved in phenotypic variation. We conducted a genome-wide survey for post-twinning de novo CNVs in 1,097 MZ twin pairs. Comparisons between MZ twins were made by CNVs measured in DNA from blood or buccal epithelium with the Affymetrix 6.0 microarray and two calling algorithms. In addition, CNV concordance rates were compared between the different sources of DNA, and gene-enrichment association analyses were conducted for thought problems (TP) and attention problems (AP) using CNVs concordant within MZ pairs. We found a total of 153 putative post-twinning de novo CNVs >100 kb, of which the majority resided in 15q11.2. Based on the discordance of raw intensity signals a selection was made of 20 de novo CNVs for a qPCR validation experiments. Two out of 20 post-twinning de novo CNVs were validated with qPCR in the same twin pair. The 13-year-old MZ twin pair that showed two discordances in CN in 15q11.2 in their buccal DNA did not show large phenotypic differences. From the remaining 18 putative de novo CNVs, 17 were deletions or duplications that were concordant within MZ twin pairs. Concordance rates within twin pairs of CNV calls with CN ≠ 2 were ~80%. Buccal epithelium-derived DNA showed a slightly but significantly higher concordance rate, and blood-derived DNA showed significantly more concordant CNVs per twin pair. The gene-enrichment analyses on concordant CNVs showed no significant associations between CNVs overlapping with genes involved in neuronal processes and TP or AP after accounting for the source of DNA. PMID:25578775

  1. Midlife Activity Predicts Risk of Dementia in Older Male Twin Pairs

    PubMed Central

    Carlson, Michelle C.; Helms, Michael J.; Steffens, David C.; Burke, James R.; Potter, Guy G.; Plassman, Brenda L.

    2013-01-01

    Background Prospective study of dementia to elucidate mechanisms of disease risk factors amenable to modification and specifically to determine whether midlife cognitive and physical leisure activities are associated with delayed onset or reduced risk of dementia within older male twin pairs. Method Co-twin control design using prospectively collected exposure information to predict risk of dementia 20–40 years later. Setting Community-dwelling and nursing home residents living throughout the continental United States. Participants 147 male twin-pairs who were discordant for dementia or age of dementia onset and were members of the NAS-NRC Twin Registry of World War II veterans and participants in the Duke Twins Study of Memory in Aging. Main Outcome Measure Diagnosed dementia using a two-stage screen and full clinical evaluation. Conditional odds ratios were estimated for the association between midlife leisure activities and late life dementia. Results Greater midlife cognitive activity was associated with a 26% risk reduction for dementia onset. Protective effects were most robust in monozygotic twin-pairs, where genetic and early-life influences were most tightly controlled, and for activities that were often cognitive and social in nature. Cognitive activity was particularly protective among monozygotic twin-pairs carrying the APOE4 allele, with a 30% risk reduction. Midlife physical activity did not modify dementia risk. Conclusions Participation in a range of cognitively and socially engaging activities in midlife reduced risk for dementia and AD in twins discordant for onset, particularly among twin-pairs at elevated genetic risk, and may be indicative of an enriched environment. PMID:18790459

  2. Mixed-Handedness in Identical Twins Discordant for Combat Exposure in Vietnam: Relationship to Posttraumatic Stress Disorder.

    PubMed

    Goetz, Jared M; Pitman, Seth R; Tanev, Kaloyan S; Pitman, Roger K; Chemtob, Claude M

    2016-01-01

    This study evaluated the degree of mixed-handedness in predominantly right-handed Vietnam combat veteran twins and their identical, combat-unexposed cotwins. The "high-risk" cotwins of combat veterans with combat-related posttraumatic stress disorder (PTSD) had more mixed-handedness (i.e., less right-handedness) than the "low-risk" cotwins of combat veterans without PTSD. Self-reported combat exposure in combat-exposed twins was a mediator of the association between handedness in their unexposed cotwins and PTSD in the twins themselves. We conclude that mixed-handedness is a familial risk factor for combat-related PTSD. This risk may be mediated in part by a proclivity for mixed-handed soldiers and Marines to experience heavier combat. PMID:26404173

  3. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia.

    PubMed

    Maiti, Sujit; Kumar, Kiran Halagur Bhoge Gowda; Castellani, Christina A; O'Reilly, Richard; Singh, Shiva M

    2011-01-01

    Genetic individuality is the foundation of personalized medicine, yet its determinants are currently poorly understood. One issue is the difference between monozygotic twins that are assumed identical and have been extensively used in genetic studies for decades. Here, we report genome-wide alterations in two nuclear families each with a pair of monozygotic twins discordant for schizophrenia evaluated by the Affymetrix 6.0 human SNP array. The data analysis includes characterization of copy number variations (CNVs) and single nucleotide polymorphism (SNPs). The results have identified genomic differences between twin pairs and a set of new provisional schizophrenia genes. Samples were found to have between 35 and 65 CNVs per individual. The majority of CNVs (~80%) represented gains. In addition, ~10% of the CNVs were de novo (not present in parents), of these, 30% arose during parental meiosis and 70% arose during developmental mitosis. We also observed SNPs in the twins that were absent from both parents. These constituted 0.12% of all SNPs seen in the twins. In 65% of cases these SNPs arose during meiosis compared to 35% during mitosis. The developmental mitotic origin of most CNVs that may lead to MZ twin discordance may also cause tissue differences within individuals during a single pregnancy and generate a high frequency of mosaics in the population. The results argue for enduring genome-wide changes during cellular transmission, often ignored in most genetic analyses. PMID:21399695

  4. Twins and endocrinology

    PubMed Central

    Hari Kumar, K. V. S.; Modi, K. D.

    2014-01-01

    Twins are two independent babies delivered during the same pregnancy and are divided as monozygotic or dizygotic based on their origin. Dizygotic twins are similar to two siblings and have different genetic information. In contrary, monozygotic twins have a similar genetic identity and provide a unique opportunity to evaluate the contribution of genetic and environmental factors of the disease. The endocrine and metabolic disorders affect a large number of the population including the twins. Diabetes, obesity, and autoimmune thyroid disease are the most common endocrine disorders in general practice. It is essential to understand the genetic basis of endocrine disorders for therapy, prognostication and risk assessment for future generations. In this article, we review the endocrine disorders in relation to their occurrence in monozygotic twins to highlight the genetic and environmental contribution. PMID:25538877

  5. Chorionicity and Heritability Estimates from Twin Studies: The Prenatal Environment of Twins and Their Resemblance Across a Large Number of Traits.

    PubMed

    van Beijsterveldt, C E M; Overbeek, L I H; Rozendaal, L; McMaster, M T B; Glasner, T J; Bartels, M; Vink, J M; Martin, N G; Dolan, C V; Boomsma, D I

    2016-05-01

    There are three types of monozygotic (MZ) twins. MZ twins can either share one chorion and one amnion, each twin can have its own amnion, or MZ twins can-like dizygotic twins-each have their own chorion and amnion. Sharing the same chorion may create a more similar/dissimilar prenatal environment and bias heritability estimates, but most twin studies do not distinguish between these three types of MZ twin pairs. The aim of this paper is to investigate the effect of chorion sharing on the similarity within MZ twin pairs for a large number of traits. Information on chorion status was obtained for the Netherlands twin register (NTR) by linkage to the records from the database of the dutch pathological anatomy national automated archive (PALGA). Record linkage was successful for over 9000 pairs. Effect of chorion type was tested by comparing the within-pair similarity between monochorionic (MC) and dichorionic (DC) MZ twins on 66 traits including weight, height, motor milestones, child problem behaviors, cognitive function, wellbeing and personality. For only 10 traits, within-pair similarity differed between MCMZ and DCMZ pairs. For traits influenced by birth weight (e.g. weight and height in young children) we expected that MC twins would be more discordant. This was found for 5 out of 13 measures. When looking at traits where blood supply is important, we saw MCMZ twins to be more concordant than DCMZ's for 3 traits. We conclude that the influence on the MZ twin correlation of the intra-uterine prenatal environment, as measured by sharing a chorion type, is small and limited to a few phenotypes. This implies that the assumption of equal prenatal environment of mono- and DC MZ twins, which characterizes the classical twin design, is largely tenable. PMID:26410687

  6. One-year developmental stability and covariance among oddball, novelty, go/no-go, and flanker event-related potentials in adolescence: A monozygotic twin study.

    PubMed

    Burwell, Scott J; Malone, Stephen M; Iacono, William G

    2016-07-01

    ERP measures may index genetic risk for psychopathology before disorder onset in adolescence, but little is known about their developmental rank-order stability during this period of significant brain maturation. We studied ERP stability in 48 pairs of identical twins (age 14-16 years) tested 1 year apart. Trial-averaged voltage waveforms were extracted from electroencephalographic recordings from oddball/novelty, go/no-go, and flanker tasks, and 16 amplitude measures were examined. Members of twin pairs were highly similar, whether based on ERP amplitude measures (intraclass correlation [ICC] median = .64, range = .44-.86) or three factor scores (all ICCs ≥ .69) derived from them. Stability was high overall, with 69% of the 16 individual measures generating stability coefficients exceeding .70 and all factor scores showing stability above .75. Measures from 10 difference waveforms calculated from paired conditions within tasks were also examined, and were associated with lower twin similarity (ICC median = .52, .38-.64) and developmental stability (only 30% exceeding .70). In a supplemental analysis, we found significant developmental stability for error-related negativity (range = .45-.55) and positivity (.56-.70) measures when average waveforms were based on one or more trials, and that these values were equivalent to those derived from averages using the current field recommendation, which requires six or more trials. Overall, we conclude that the studied brain measures are largely stable over 1 year of mid- to late adolescence, likely reflecting familial etiologic influences on brain functions pertaining to cognitive control and salience recognition. PMID:26997525

  7. A study of diabetes mellitus within a large sample of Australian twins.

    PubMed

    Condon, Julianne; Shaw, Joanne E; Luciano, Michelle; Kyvik, Kirsten O; Martin, Nicholas G; Duffy, David L

    2008-02-01

    Twin studies of diabetes mellitus can help elucidate genetic and environmental factors in etiology and can provide valuable biological samples for testing functional hypotheses, for example using expression and methylation studies of discordant pairs. We searched the volunteer Australian Twin Registry (19,387 pairs) for twins with diabetes using disease checklists from nine different surveys conducted from 1980-2000. After follow-up questionnaires to the twins and their doctors to confirm diagnoses, we eventually identified 46 pairs where one or both had type 1 diabetes (T1D), 113 pairs with type 2 diabetes (T2D), 41 female pairs with gestational diabetes (GD), 5 pairs with impaired glucose tolerance (IGT) and one pair with MODY. Heritabilities of T1D, T2D and GD were all high, but our samples did not have the power to detect effects of shared environment unless they were very large. Weight differences between affected and unaffected cotwins from monozygotic (MZ) discordant pairs were large for T2D and GD, but much larger again for discordant dizygotic (DZ) pairs. The bivariate genetic analysis (under the multifactorial threshold model) estimated the genetic correlation between body mass index (BMI) and T2D to be 0.46, and the environmental correlation at only 0.06. PMID:18251672

  8. [Possible role of the cytoplasm in the course of morphogenesis, namely, in the case of twinning].

    PubMed

    Giroud, A

    1975-01-01

    A number of facts that cannot be interpreted in terms of nuclear genes would seem to be interpretable in terms of cytoplasmic heredity. The hereditary role of the mitochondria has already been demonstrated in molds. The role of the cytoplasm (matrilineal heredity) has also been shown in some phanerogams, and analogous facts have been noted in insects and molluscs. In amphibians, the influence of an alteration of the egg cortical cytoplasm has been shown to reappear in the following generations. This cortical cytoplasm includes the morphological plan of the organism with its bilateral symmetry. In Tatusia novemcincta the twins may be morphologically or chemically different, which may only be explained by an unequal subdivision of a heterogenic cytoplasm. Similar facts are observed in human twinning. Monozygotic twins are usually discordant with respect to congenital malformations (especially symmelia and anencephaly), which may only be interpreted in terms of unequal distribution of cytoplasmic properties. PMID:1242075

  9. Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVF/ICSI

    PubMed Central

    Korsun, P.; Bals-Pratsch, M.; Ortmann, O.; Markus, S.; Germer, U.

    2016-01-01

    Monochorionic twins are usually monozygotic and thus usually have the same sex. A case of monochorionic diamniotic twins following IVF/ICSI and laser treatment of the zona pellucida (“assisted hatching”) is presented in which partial embryo amalgamation appears to have occurred. Discordant sex between the twins was suspected on detailed antenatal ultrasound at 13 + 3 weeks gestation and was confirmed on subsequent examinations. The sexual phenotype at birth was female for one twin and male for the other. Placental histology confirmed the monochorionic, diamniotic situation. Cytogenetic analysis of both twins was carried out postpartum on various tissues. On karyotyping of blood lymphocytes the male and female twins each had one mosaic of male and female cells. Oral mucosal cells showed normal male and female karyotypes respectively. Analysis of urothelium showed a normal result for the male infant, and a weak gonosomal mosaic with an XX and XY constellation for the female infant. At least for blood lymphocytes, a diagnosis of chimerism was proven. PMID:27365544

  10. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics.

    PubMed

    Cardno, A G; Gottesman, I I

    2000-01-01

    Twin studies have been vital for establishing an important genetic contribution to the etiology of schizophrenia. The five newest studies since 1995 from Europe and Japan have confirmed earlier findings. They yielded probandwise concordance rates of 41-65% in monozygotic (MZ) pairs and 0-28% in dizygotic (DZ) pairs, and heritability estimates of approximately 80-85%. Twin studies are also valuable for investigating the etiological relationships between schizophrenia and other disorders, and the genetic basis of clinical heterogeneity within schizophrenia. Studies of discordant MZ pairs provide further insights into non-inherited factors that contribute to the multifactorial etiology of this disorder. More recently, twin studies have begun to be used to directly investigate molecular genetic and epigenetic processes underlying schizophrenia. PMID:10813800

  11. Longitudinal, genome-scale analysis of DNA methylation in twins from birth to 18 months of age reveals rapid epigenetic change in early life and pair-specific effects of discordance

    PubMed Central

    2013-01-01

    Background The extent to which development- and age-associated epigenetic changes are influenced by genetic, environmental and stochastic factors remains to be discovered. Twins provide an ideal model with which to investigate these influences but previous cross-sectional twin studies provide contradictory evidence of within-pair epigenetic drift over time. Longitudinal twin studies can potentially address this discrepancy. Results In a pilot, genome-scale study of DNA from buccal epithelium, a relatively homogeneous tissue, we show that one-third of the CpGs assayed show dynamic methylation between birth and 18 months. Although all classes of annotated genomic regions assessed show an increase in DNA methylation over time, probes located in intragenic regions, enhancers and low-density CpG promoters are significantly over-represented, while CpG islands and high-CpG density promoters are depleted among the most dynamic probes. Comparison of co-twins demonstrated that within-pair drift in DNA methylation in our cohort is specific to a subset of pairs, who show more differences at 18 months. The rest of the pairs show either minimal change in methylation discordance, or more similar, converging methylation profiles at 18 months. As with age-associated regions, sites that change in their level of within-pair discordance between birth and 18 months are enriched in genes involved in development, but the average magnitude of change is smaller than for longitudinal change. Conclusions Our findings suggest that DNA methylation in buccal epithelium is influenced by non-shared stochastic and environmental factors that could reflect a degree of epigenetic plasticity within an otherwise constrained developmental program. PMID:23697701

  12. The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

    PubMed

    Bölte, Sven; Willfors, Charlotte; Berggren, Steve; Norberg, Joakim; Poltrago, Lina; Mevel, Katell; Coco, Christina; Fransson, Peter; Borg, Jacqueline; Sitnikov, Rouslan; Toro, Roberto; Tammimies, Kristiina; Anderlid, Britt-Marie; Nordgren, Ann; Falk, Anna; Meyer, Urs; Kere, Juha; Landén, Mikael; Dalman, Christina; Ronald, Angelica; Anckarsäter, Henrik; Lichtenstein, Paul

    2014-06-01

    Neurodevelopmental disorders affect a substantial minority of the general population. Their origins are still largely unknown, but a complex interplay of genetic and environmental factors causing disturbances of the central nervous system's maturation and a variety of higher cognitive skills is presumed. Only limited research of rather small sample size and narrow scope has been conducted in neurodevelopmental disorders using a twin-differences design. The Roots of Autism and ADHD Twin Study in Sweden (RATSS) is an ongoing project targeting monozygotic twins discordant for categorical or dimensional autistic and inattentive/hyperactive-impulsive phenotypes as well as other neurodevelopmental disorders, and typically developing twin controls. Included pairs are 9 years of age or older, and comprehensively assessed for psychopathology, medical history, neuropsychology, and dysmorphology, as well as structural, functional, and molecular brain imaging. Specimens are collected for induced pluripotent (iPS) and neuroepithelial stem cells, genetic, gut bacteria, protein-/monoamine, and electron microscopy analyses. RATSS's objective is to generate a launch pad for novel surveys to understand the complexity of genotype-environment-phenotype interactions in autism spectrum disorder and attention-deficit hyperactivity disorder (ADHD). By October 2013, RATSS had collected data from 55 twin pairs, among them 10 monozygotic pairs discordant for autism spectrum disorder, seven for ADHD, and four for other neurodevelopmental disorders. This article describes the design, recruitment, data collection, measures, collected pairs' characteristics, as well as ongoing and planned analyses in RATSS. Potential gains of the study comprise the identification of environmentally mediated biomarkers, the emergence of candidates for drug development, translational modeling, and new leads for prevention of incapacitating outcomes. PMID:24735654

  13. Do Parents Create, or Respond to, Differences in Twins?

    ERIC Educational Resources Information Center

    Lytton, Hugh

    1977-01-01

    In a twin study using direct behavioral observation of parent-child interaction, as well as ratings and experimental measures, the question of parents' differential treatment of monozygotic and dizygotic twins was investigated. (Author/SB)

  14. The Placenta in Twin-to-Twin Transfusion Syndrome and Twin Anemia Polycythemia Sequence.

    PubMed

    Couck, Isabel; Lewi, Liesbeth

    2016-06-01

    Twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS) are complications unique to monochorionic twin pregnancies and their shared circulation. Both are the result of the transfusion imbalance in the intertwin circulation. TTTS is characterized by an amniotic fluid discordance, whereas in TAPS, there is a severe discordance in hemoglobin levels. The article gives an overview of the typical features of TTTS and TAPS placentas. PMID:27098457

  15. Does Caregiving Cause Psychological Distress? The Case for Familial and Genetic Vulnerabilities in Female Twins

    PubMed Central

    Vitaliano, Peter P.; Strachan, Eric; Dansie, Elizabeth; Goldberg, Jack; Buchwald, Dedra

    2014-01-01

    Background Informal caregiving can be deleterious to mental health, but research results are inconsistent and may reflect an interaction between caregiving and vulnerability to stress. Methods We examined psychological distress among 1,228 female caregiving and non-caregiving twins. By examining monozygotic and dizygotic twin pairs discordant for caregiving, we assessed the extent to which distress is directly related to caregiving or confounded by common genes and environmental exposures. Results Caregiving was associated with distress as measured by mental health functioning, anxiety, perceived stress, and depression. The overall association between caregiving and distress was confounded by common genes and environment for mental health functioning, anxiety, and depression. Common environment also confounded the association of caregiving and perceived stress. Conclusions Vulnerability to distress is a factor in predicting caregivers' psychosocial functioning. Additional research is needed to explicate the mechanisms by which common genes and environment increase the risk of distress among informal caregivers. PMID:24264772

  16. Is that me or my twin? Lack of self-face recognition advantage in identical twins.

    PubMed

    Martini, Matteo; Bufalari, Ilaria; Stazi, Maria Antonietta; Aglioti, Salvatore Maria

    2015-01-01

    Despite the increasing interest in twin studies and the stunning amount of research on face recognition, the ability of adult identical twins to discriminate their own faces from those of their co-twins has been scarcely investigated. One's own face is the most distinctive feature of the bodily self, and people typically show a clear advantage in recognizing their own face even more than other very familiar identities. Given the very high level of resemblance of their faces, monozygotic twins represent a unique model for exploring self-face processing. Herein we examined the ability of monozygotic twins to distinguish their own face from the face of their co-twin and of a highly familiar individual. Results show that twins equally recognize their own face and their twin's face. This lack of self-face advantage was negatively predicted by how much they felt physically similar to their co-twin and by their anxious or avoidant attachment style. We speculate that in monozygotic twins, the visual representation of the self-face overlaps with that of the co-twin. Thus, to distinguish the self from the co-twin, monozygotic twins have to rely much more than control participants on the multisensory integration processes upon which the sense of bodily self is based. Moreover, in keeping with the notion that attachment style influences perception of self and significant others, we propose that the observed self/co-twin confusion may depend upon insecure attachment. PMID:25853249

  17. The Influence of Chorion Type on Health Measures at Birth and Dental Development in Australian and Dutch Twins: A Comparative Study.

    PubMed

    Mihailidis, Suzanna; Bockmann, Michelle; McConnell, Elise; Hughes, Toby; van Beijsterveldt, Toos C E M; Boomsma, Dorret I; McMaster, Minni; Townsend, Grant

    2015-08-01

    Chorion type may significantly influence the prenatal environment of twins. This study explored the associations between chorion type and gestational age, birth weight, birth length, and the timing of emergence of the first primary tooth in two populations of twins, Australian and Dutch. Additionally, we investigated the relationship between chorion type and birth weight discordance (BWD) in order to determine whether a significant relationship existed between discordance in birth weight and discordance in the timing of emergence of the first primary tooth. The two study samples consisted of 409 Australian twin pairs and 301 Dutch twin pairs, all of European ancestry. Data were collected through a combination of questionnaires and recording charts administered to the parents and through linkage with biological databases. In the Australian sample, monozygotic monochorionic (MZMC) twins experienced the shortest mean gestation time (35 weeks), the lowest mean birth length (46 cm) and the lowest mean birth weight (2.3 kg) compared with other twin groups. For the same variables in the Dutch sample, these trends with MZMC twinning were not observed. Chorion type did not significantly affect the mean timing of emergence of the first primary tooth in either sample. Monochorionicity was found to be significantly associated with BWD in both samples, but there was a significant association between BWD in MZMC twin pairs and timing of emergence of the first primary tooth only in the Australian sample. Results from this study support previous findings that the timing of emergence of the first primary tooth is influenced strongly by genetic factors and is well protected from environmental disturbances. PMID:26227835

  18. Is That Me or My Twin? Lack of Self-Face Recognition Advantage in Identical Twins

    PubMed Central

    Martini, Matteo; Bufalari, Ilaria; Stazi, Maria Antonietta; Aglioti, Salvatore Maria

    2015-01-01

    Despite the increasing interest in twin studies and the stunning amount of research on face recognition, the ability of adult identical twins to discriminate their own faces from those of their co-twins has been scarcely investigated. One’s own face is the most distinctive feature of the bodily self, and people typically show a clear advantage in recognizing their own face even more than other very familiar identities. Given the very high level of resemblance of their faces, monozygotic twins represent a unique model for exploring self-face processing. Herein we examined the ability of monozygotic twins to distinguish their own face from the face of their co-twin and of a highly familiar individual. Results show that twins equally recognize their own face and their twin’s face. This lack of self-face advantage was negatively predicted by how much they felt physically similar to their co-twin and by their anxious or avoidant attachment style. We speculate that in monozygotic twins, the visual representation of the self-face overlaps with that of the co-twin. Thus, to distinguish the self from the co-twin, monozygotic twins have to rely much more than control participants on the multisensory integration processes upon which the sense of bodily self is based. Moreover, in keeping with the notion that attachment style influences perception of self and significant others, we propose that the observed self/co-twin confusion may depend upon insecure attachment. PMID:25853249

  19. A twin study of differences in the response of plasma ghrelin to a milkshake preload in restrained eaters

    PubMed Central

    Myhre, Rachel; Kratz, Mario; Goldberg, Jack; Polivy, Janet; Melhorn, Susan; Buchwald, Dedra; Cummings, David E.; Schur, Ellen A.

    2014-01-01

    Background Genetic, physiological, and psychological factors can affect food intake, but twin studies can distinguish inherited from environmental contributors. We examined the influence of attempted cognitive control of eating (“restrained eating”) on levels of appetite-regulating hormones. Methods Sixteen female, monozygotic twin pairs, discordant for Restraint Scale score (i.e., one twin a restrained eater with score > 15 whereas the co-twin was unrestrained), were selected from the University of Washington Twin Registry. Serial plasma ghrelin concentrations were monitored during meals and a preload study paradigm involving intake of a milkshake followed by an ad libitum ice cream “taste test.” Results Body weight, body mass index, resting energy expenditure, and fasting leptin levels were very similar between restrained and unrestrained twins. In a preload study, twins ate similar amounts of ice cream shortly after drinking identical milkshakes (mean ±SD; restrained 239 ±158 vs. unrestrained 228 ±132 kilocalories; P = 0.83). However, ghrelin concentrations during the preload study were significantly higher (P = 0.03) in restrained twins than in their unrestrained co-twins. Regardless of restraint status, ghrelin levels prior to the preload study were prospectively and positively associated with ice cream intake (P = 0.001). Conclusions Compared to their unrestrained co-twins, restrained twins had higher endogenous ghrelin levels during a preload study, but ate similar amounts. This finding is consistent with exertion of cognitive control relative to the state of physiologic appetite stimulation. Moreover, these findings in twins suggest that higher ghrelin levels result from restrained eating behavior and not from genetic predisposition. PMID:24534168

  20. Is Chronic Low Back Pain Associated with the Prevalence of Coronary Heart Disease when Genetic Susceptibility Is Considered? A Co-Twin Control Study of Spanish Twins

    PubMed Central

    Fernandez, Matt; Ordoñana, Juan R.; Hartvigsen, Jan; Ferreira, Manuela L.; Refshauge, Kathryn M.; Sánchez-Romera, Juan F.; Pinheiro, Marina B.; Simpson, Stephen J.; Hopper, John L.; Ferreira, Paulo H.

    2016-01-01

    Objective To investigate the chronic low back pain and coronary heart disease relationship, after adjusting for relevant confounders, including genetics. Methods In a cross-sectional design, 2148 twins were recruited from the Murcia Twin Registry, Spain. The exposure was chronic LBP and the outcomes were myocardial infarction and other coronary heart diseases—lifetime and in the last 2 years–based on standardized health-related questionnaires. First, logistic regression analysis investigated associations of the total sample followed by a matched co-twin control analyses, with all complete twin pairs discordant for chronic LBP utilised, separated for zygosity—dizygotic (DZ) and monozygotic (MZ) pairs, which adjusted for shared familial factors, including genetics. Results Chronic LBP pain is associated with lifetime myocardial infarction [odds ratio (OR) = 2.69, 95% confidence interval (CI) = 1.35–5.36], other coronary heart diseases over a lifetime (OR = 2.58, 95% CI: 1.69–3.93) and in the last two years (OR = 2.19, 95% CI: 1.33–3.60), while there was a borderline association with myocardial infarction in the last 2 years (OR = 2.64, 95% CI: 0.98–7.12). Although the magnitude of the association remained or increased in the co-twin control analyses, none reached statistical significance. Conclusion Chronic LBP is associated with a higher prevalence of myocardial infarction and coronary heart disease. It is possible that this association remains even when controlling for genetics and early shared environment, although this should be investigated with larger samples of twins discordant for LBP. PMID:27171210

  1. Neonatal lupus erythematosus: discordant disease expression of U1RNP-positive antibodies in fraternal twins--is this a subset of neonatal lupus erythematosus or a new distinct syndrome?

    PubMed

    Solomon, B A; Laude, T A; Shalita, A R

    1995-05-01

    Neonatal lupus erythematosus (NLE) is an uncommon disease that is manifested by cutaneous lesions, cardiac conduction defects, or both, that appear in utero or shortly after birth. In approximately 95% of patients, anti-Ro antibody (Ro[SS-A]) has been identified and has become the serologic marker for NLE. Since 1987 there have been four reported cases of Ro- and anti-La antibody (La[SS-B])-negative, U1RNP antibody-positive, NLE. Our affected twin, as well as all other infants with U1RNP-positive NLE, had cutaneous lesions similar to those in Ro-positive NLE, although they lacked systemic abnormalities, including cardiac conduction defects. HLA typing of mothers with infants with U1RNP-positive NLE revealed the presence of HLA-DR4, DQw1, or DQw3 phenotypes. Our typing confirms these findings. As with Ro-positive NLE, no distinct HLA associations were demonstrated in the infants. Unlike Ro-positive mothers, all mothers with a U1RNP-positive infant with NLE had connective tissue disease at the time of the diagnosis and had a different spectrum of disease. We describe the clinical, serologic, and immunogenetic findings in the first reported case of U1RNP-positive NLE in dizygotic twins in whom the NLE disease expression was discordant. PMID:7722044

  2. DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome.

    PubMed

    Ollikainen, Miina; Smith, Katherine R; Joo, Eric Ji-Hoon; Ng, Hong Kiat; Andronikos, Roberta; Novakovic, Boris; Abdul Aziz, Nur Khairunnisa; Carlin, John B; Morley, Ruth; Saffery, Richard; Craig, Jeffrey M

    2010-11-01

    Mounting evidence from both animal and human studies suggests that the epigenome is in constant drift over the life course in response to stochastic and environmental factors. In humans, this has been highlighted by a small number of studies that have demonstrated discordant DNA methylation patterns in adolescent or adult monozygotic (MZ) twin pairs. However, to date, it remains unclear when such differences emerge, and how prevalent they are across different tissues. To address this, we examined the methylation of four differentially methylated regions associated with the IGF2/H19 locus in multiple birth tissues derived from 91 twin pairs: 56 MZ and 35 dizygotic (DZ). Tissues included cord blood-derived mononuclear cells and granulocytes, human umbilical vein endothelial cells, buccal epithelial cells and placental tissue. Considerable variation in DNA methylation was observed between tissues and between unrelated individuals. Most interestingly, methylation discordance was also present within twin pairs, with DZ pairs showing greater discordance than MZ pairs. These data highlight the variable contribution of both intrauterine environmental exposures and underlying genetic factors to the establishment of the neonatal epigenome of different tissues and confirm the intrauterine period as a sensitive time for the establishment of epigenetic variability in humans. This has implications for the effects of maternal environment on the development of the newborn epigenome and supports an epigenetic mechanism for the previously described phenomenon of 'fetal programming' of disease risk. PMID:20699328

  3. Infant Temperament and Genetics: An Objective Twin Study of Motor Activity Level.

    ERIC Educational Resources Information Center

    Saudino, Kimberly J.; Eaton, Warren O.

    1991-01-01

    The activity level of 60 pairs of infant twins was measured for 2 days. Differences in activity level for monozygotic and dizygotic twins, as indicated by motion recorders and parent ratings, showed evidence of genetic influences. (BC)

  4. Twin Studies in Autism: What Might They Say about Genetic and Environmental Influences

    ERIC Educational Resources Information Center

    Anderson, George M.

    2012-01-01

    Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.

  5. Low birth weight and nephron mass and their role in the progression of chronic kidney disease: a case report on identical twins with Alport disease.

    PubMed

    Rajan, Tasleem; Barbour, Sean J; White, Colin T; Levin, Adeera

    2011-12-01

    We report the outcomes of 47-year-old monozygotic twins with Alport syndrome, who share the same maternal and genetic factors; however, in adulthood have discordant trajectories in the decline of their renal function. The twin with the more rapid progression to renal failure was born with low birth weight (LBW), suggesting congenital nephron deficiency and increased susceptibility to progressive renal disease, despite having the same genetically inherited kidney condition. This 'natural experiment' adds further credence to the hypothesis that LBW contributes to the susceptibility to chronic kidney disease. We suggest further studies and surveillance for this high-risk group of infants in order to gain additional insights into the impact of perinatal factors such as LBW. PMID:21565948

  6. Physically active vs. inactive lifestyle, muscle properties, and glucose homeostasis in middle-aged and older twins.

    PubMed

    Leskinen, T; Sipilä, S; Kaprio, J; Kainulainen, H; Alen, M; Kujala, U M

    2013-10-01

    Exercise-induced positive changes in skeletal muscle properties and metabolism decrease the risk for disability, cardiometabolic diseases and mortality. Here, we studied muscle properties and glucose homeostasis in a non-exercise stage in twin pairs with co-twins discordant for physical activity habits for at least 32 years of their adult lives. Isometric knee extension force, MR imaging of midthigh tissue composition and muscle volume, and fasting blood samples were acquired from 16 same-sex (seven monozygotic, nine dizygotic) middle-aged and older twin pairs. The consistently active twins had 20 % higher knee extension forces than their inactive co-twins (p = 0.006) although the active twins had only 4 % higher midthigh muscle cross-sectional areas (p = 0.072). These results were similar in intrapair analysis in which only the seven identical twin pairs were included. The ratio between the area of midthigh fat and muscle tissues was significantly lower among the active twins (0.65 vs. 0.48, p = 0.006). The active twins had also lower fasting plasma glucose levels (5.1 vs 5.6 mmol/l, p = 0.041). The area of midthigh intramuscular (extramyocellular) fat was associated with the markers of glucose homeostasis, especially with glycated hemoglobin, and these associations were emphasized by the diabetic and inactive twins. Regular exercise throughout the adult life retains muscle strength and quality but not necessarily mass. The regular use of muscles also prevents from the accumulation of intramuscular fat which might be related to maintained glucose metabolism and, thus, prevention of metabolic disorders. PMID:23124702

  7. Dogs discriminate identical twins.

    PubMed

    Pinc, Ludvík; Bartoš, Luděk; Reslová, Alice; Kotrba, Radim

    2011-01-01

    Earlier studies have shown variation among experimental attempts to establish whether human monozygotic twins that are genetically identical also have identical individual scents. In none of the cases were the dogs able to distinguish all the individual scents of monozygotic twins living in the same environment if the scents were presented to them separately. Ten specially trained police German Shepherd dogs of three Czech Republic Police Regional Headquarters were used for scent identification in our study. The dogs were supposed to match scents of two monozygotic pairs (5 and 7 years old) and two dizygotic twin pairs (8 and 13 years old). Scents were collected on cotton squares stored in glass jars. Dog handlers were blind to the experiment details. In each trial (line-up), one scent was used as a starting scent and the dog was then sent to determine if any of the 7 presented glass jars contained a matching scent. Scents of children of similar ages were used as distractors. In the matching procedure, the dogs matched correctly the scent of one twin with the other, as well as two scents collected from every single identical and non-identical twin to prove their efficacy and likewise, the presence of the matching twin scent in any given glass jar. All dogs in all trials distinguished correctly the scents of identical as well as non-identical twins. All dogs similarly matched positively two scents collected from the same individuals. Our findings indicated that specially trained German Shepherd dogs are able to distinguish individual scents of identical twins despite the fact that they live in the same environment, eat the same food and even if the scents are not presented to them simultaneously. PMID:21698282

  8. Dogs Discriminate Identical Twins

    PubMed Central

    Pinc, Ludvík; Bartoš, Luděk; Reslová, Alice; Kotrba, Radim

    2011-01-01

    Earlier studies have shown variation among experimental attempts to establish whether human monozygotic twins that are genetically identical also have identical individual scents. In none of the cases were the dogs able to distinguish all the individual scents of monozygotic twins living in the same environment if the scents were presented to them separately. Ten specially trained police German Shepherd dogs of three Czech Republic Police Regional Headquarters were used for scent identification in our study. The dogs were supposed to match scents of two monozygotic pairs (5 and 7 years old) and two dizygotic twin pairs (8 and 13 years old). Scents were collected on cotton squares stored in glass jars. Dog handlers were blind to the experiment details. In each trial (line-up), one scent was used as a starting scent and the dog was then sent to determine if any of the 7 presented glass jars contained a matching scent. Scents of children of similar ages were used as distractors. In the matching procedure, the dogs matched correctly the scent of one twin with the other, as well as two scents collected from every single identical and non-identical twin to prove their efficacy and likewise, the presence of the matching twin scent in any given glass jar. All dogs in all trials distinguished correctly the scents of identical as well as non-identical twins. All dogs similarly matched positively two scents collected from the same individuals. Our findings indicated that specially trained German Shepherd dogs are able to distinguish individual scents of identical twins despite the fact that they live in the same environment, eat the same food and even if the scents are not presented to them simultaneously. PMID:21698282

  9. Cohort Profile: Swedish Twin Study on Prediction and Prevention of Asthma (STOPPA).

    PubMed

    Almqvist, Catarina; Örtqvist, Anne K; Ullemar, Vilhelmina; Lundholm, Cecilia; Lichtenstein, Paul; Magnusson, Patrik K E

    2015-06-01

    Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. The aim of the Swedish Twin study On Prediction and Prevention of Asthma (STOPPA) is to identify environmental (birth characteristics and early life) and genetic (including epigenetic) factors as determinants for asthmatic disease. Based on the Child and Adolescent Twin Study in Sweden (CATSS) (parental interview at 9 or 12 years, N ~23,900) and an asthma and/or wheezing algorithm, we identified a sample of monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology and DNA), urine (metabolites), feces (microbiota), and saliva (cortisol). In total, 376 twin pairs (752 individual twins) completed the study, response rate 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. This article describes the design, recruitment, data collection, measures, and background characteristics, as well as ongoing and planned analyses in STOPPA. Potential gains of the study include the identification of biomarkers, the emergence of candidates for drug development, and new leads for prevention of asthma and allergic disease. PMID:25900604

  10. The Development of Empathy in Twins.

    ERIC Educational Resources Information Center

    Zahn-Waxler, Carolyn; And Others

    1992-01-01

    Observational measures of monozygotic and dizygotic twins' reactions to simulations of distress in others were obtained when the twins were 14 and 20 months old. Components of concern for others increased with age. Girls scored higher than boys on most measures. There was modest evidence for heritability of empathy. (BC)

  11. Molecular analysis of the gut microbiota of identical twins with Crohn's disease

    SciTech Connect

    Jansson, Janet; Dicksved, Johan; Halfvarson, Jonas; Rosenquist, Magnus; Jarnerot, Gunnar; Tysk, Curt; Apajalahti, Juha; Engstrand, Lars; Jansson, Janet K.

    2008-03-14

    Increasing evidence suggests that a combination of host genetics and the composition of the gut microbiota are important for development of Crohn's disease (CD). Our aim was to study identical twins with CD to determine microbial factors independently of host genetics. Fecal samples were studied from 10 monozygotic twin pairs with CD (discordant n=6, concordant n=4) and 8 healthy twin pairs. DNA was extracted, 16S rRNA genes were PCR amplified and T-RFLP fingerprints generated using general bacterial and Bacteroides group specific primers. The microbial communities were also profiled based on their % G+C contents. Bacteroides 16S rRNA genes were cloned and sequenced from a subset of the samples. The bacterial diversity in each sample and similarity indices between samples were estimated based on the T-RFLP data using a combination of statistical approaches. Healthy individuals had a significantly higher bacterial diversity compared to individuals with CD. The fecal microbial communities were more similar between healthy twins than between twins with CD, especially when these were discordant for the disease. The microbial community profiles of individuals with ileal CD were significantly different from healthy individuals and those with colonic CD. Also, CD individuals had a lower relative abundance of B. uniformis and higher relative abundances of B. ovatus and B. vulgatus. Our results suggest that genetics and/or environmental exposure during childhood in part determine the gut microbial composition. However, CD is associated with dramatic changes in the gut microbiota and this was particularly evident for individuals with ileal CD.

  12. The Louisville Twin Study: Developmental Synchronies in Behavior.

    ERIC Educational Resources Information Center

    Wilson, Ronald S.

    1983-01-01

    Results show individual differences in intelligence progressively stabilizing by school age, with each child following a distinct pattern of mental development. Monozygotic twins became increasingly concordant over an Hes and were closely matched on developmental trends. (Author/RH)

  13. Presence and Acquired Origin of Reduced Recall for Fear Extinction in PTSD: Results of a Twin Study

    PubMed Central

    Milad, Mohammed R.; Orr, Scott P.; Lasko, Natasha B.; Chang, Yuchiao; Rauch, Scott L.; Pitman, Roger K.

    2008-01-01

    Recall of fear extinction, which is thought to aid in recovery from a psychologically traumatic event, is hypothesized to be deficient in post-traumatic stress disorder (PTSD), but this has not yet been demonstrated in the laboratory, nor has its origin been investigated. To address these two issues, 14 pairs of monozygotic twins discordant for combat exposure, in 7 of which the combat-exposed twin had PTSD, underwent a two-day fear conditioning and extinction procedure. On Day 1, subjects viewed colored light conditioned stimuli, some of which were paired with mild electric shock, followed by extinction of the conditioned responses. On Day 2, recall of Day 1 extinction learning (i.e., extinction retention) was assessed. Skin conductance response (SCR) was the dependent measure. There were no group differences during acquisition or extinction learning. However, a significant PTSD Diagnosis (in the exposed twin) x combat Exposure interaction emerged during extinction recall, with the PTSD combat veterans having larger SCRs than their own co-twins, and than the non-PTSD combat veterans and their co-twins. These results indicate that retention of extinction of conditioned fear is deficient in PTSD. Furthermore, they support the conclusion that this deficit is acquired as a result of combat trauma leading to PTSD, rather than being a predisposing factor to developing PTSD upon the stress of combat. PMID:18313695

  14. Identical twins in forensic genetics - Epidemiology and risk based estimation of weight of evidence.

    PubMed

    Tvedebrink, Torben; Morling, Niels

    2015-12-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where the alternative hypothesis is assumed not to encompass close relatives. However, this approach implies that important factors present in real human populations are discarded. This approach may be very unfavourable to the defendant. In this paper, we discuss some important aspects concerning the closest familial relationship, i.e., identical (monozygotic) twins, when reporting the weight of evidence. This can be done even when the suspect has no knowledge of an identical twin or when official records hold no twin information about the suspect. The derived expressions are not original as several authors previously have published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator. If accounting for a monozygotic twin in the weight of evidence, it implies that the likelihood ratio is truncated at a maximal value depending on the prevalence of monozygotic twins and the societal efficiency of recognising a monozygotic twin. If a monozygotic twin is considered as an alternative proposition, then data relevant for the Danish society suggests that the threshold of likelihood ratios should approximately be between 150,000 and 2,000,000 in order to take the risk of an unrecognised identical, monozygotic twin into consideration. In other societies, the threshold of the likelihood ratio in crime cases may reach other, often lower, values depending on the recognition of monozygotic twins and the age of the suspect. In general, more strictly kept

  15. A Longitudinal Twin Study of Skewed X Chromosome-Inactivation

    PubMed Central

    Wong, Chloe Chung Yi; Caspi, Avshalom; Williams, Benjamin; Houts, Renate; Craig, Ian W.; Mill, Jonathan

    2011-01-01

    X-chromosome inactivation (XCI) is a pivotal epigenetic mechanism involved in the dosage compensation of X-linked genes between males and females. In any given cell, the process of XCI in early female development is thought to be random across alleles and clonally maintained once established. Recent studies, however, suggest that XCI might not always be random and that skewed inactivation may become more prevalent with age. The factors influencing such XCI skewing and its changes over time are largely unknown. To elucidate the influence of stochastic, heritable and environmental factors in longitudinal changes in XCI, we examined X inactivation profiles in a sample of monozygotic (MZ) (n = 23) and dizygotic (DZ) (n = 22) female twin-pairs at ages 5 and 10 years. Compared to MZ twins who were highly concordant for allelic XCI ratios, DZ twins showed much lower levels of concordance. Whilst XCI patterns were moderately stable between ages 5 and 10 years, there was some drift over time with an increased prevalence of more extreme XCI skewing at age 10. To our knowledge, this study represents the earliest longitudinal assessment of skewed XCI patterns, and suggests that skewed XCI may already be established in early childhood. Our data also suggest a link between MZ twinning and the establishment of allelic XCI ratios, and demonstrate that acquired skewing in XCI after establishment is primarily mediated by stochastic mechanisms. These data have implications for our understanding about sex differences in complex disease, and the potential causes of phenotypic discordance between MZ female twins. PMID:21445353

  16. Aquagenic urticaria in twins

    PubMed Central

    2013-01-01

    We describe the case of 18 year old twin brothers who presented to our unit with a 3 year history of aquagenic urticaria. This rare form of urticaria usually presents within an hour of contact with water. The aetiology is unknown. Most cases are sporadic but there are a small number of familial cases in the medical literature. A specific genetic mutation has not yet been found. To our knowledge, this is the first report of aquagenic urticaria in monozygotic twins, further supporting a genetic component to this disease. PMID:23663417

  17. Aquagenic urticaria in twins.

    PubMed

    Kai, Anneke C; Flohr, Carsten

    2013-01-01

    We describe the case of 18 year old twin brothers who presented to our unit with a 3 year history of aquagenic urticaria. This rare form of urticaria usually presents within an hour of contact with water. The aetiology is unknown. Most cases are sporadic but there are a small number of familial cases in the medical literature. A specific genetic mutation has not yet been found. To our knowledge, this is the first report of aquagenic urticaria in monozygotic twins, further supporting a genetic component to this disease. PMID:23663417

  18. Early Prenatal Diagnosis of Thoracopagus Twins by Ultrasound

    PubMed Central

    Alkhateeb, Mahmoud; Mashaqbeh, Mahmoud; Magableh, Sami; Hadad, Rafiq; Nseer, Quteiba; Alshboul, Abdelkhaleg

    2015-01-01

    Introduction: Conjoined twins are identical twins joined in utero. It’s a rare phenomenon and present a unique challenge to obstetricians and pediatric surgeons. Conjoined twins are complex complication of monozygotic twinning, which is associated with high perinatal mortality. Case report: At our clinic complete anomaly scan was done, the patients was found to have monozygotic twins of 15 weeks gestation and carrying a conjoint twin. Our ultrasound revealed fully developed heads facing each other, joint at the thorax and sharing a common abdomen. These twins share a single heart with two atrium and two ventricle. They decide for termination of pregnancy after taken the opinion of religious people. Termination of pregnancy was performed by many methods and we chose to use cytotec tablets which inserted vaginally and the outcome was conjoint twin with two bodies fused from the upper thorax to lower belly. Both fetuses are female and died immediately after termination of pregnancy. PMID:25870495

  19. Causes and consequences of obesity: the contribution of recent twin studies.

    PubMed

    Naukkarinen, J; Rissanen, A; Kaprio, J; Pietiläinen, K H

    2012-08-01

    Obesity is a genetically complex disorder that produces a myriad of health problems. Most of the recognized complications of obesity are not only strongly influenced by lifestyle factors, but also present with independent genetic predispositions that are notoriously difficult to disentangle in humans. Most studies on the causes and consequences of acquired obesity are encumbered by the incomplete ability to control for genetic influences. However, utilizing a unique experiment of nature, namely monozygotic twins (MZ) discordant for obesity as 'clonal controls' of obese and non-obese individuals has enabled the fine characterization of the effects and possible antecedents of acquired obesity while controlling for the genetic background, as well as pointed to novel obesity predisposing candidate genes. This review is a distillation of the findings from more than 10 years of research done in an exceptionally well-characterized collection of MZ and dizygotic (DZ) twins, based on the Finnish Twin Cohorts. Topics covered include the nature of development of obesity from the childhood onwards, the role of exercise in modifying the genetic susceptibility, the resulting inflammatory, prediabetic and preatherosclerotic changes in whole body and adipose tissue physiology, as well as the newest insights provided by the omics revolution. PMID:21986704

  20. Sexual Behavior in Young Adulthood: A Population-Based Twin Study

    PubMed Central

    Mustanski, Brian; Viken, Richard J.; Kaprio, Jaakko; Winter, Torsten; Rose, Richard J.

    2007-01-01

    Objective With behavior genetic analyses of data from young adult twins, we evaluated theoretical perspectives that differentially emphasize biological dispositions, social/cultural factors, or universal pathways to explain individual differences in sexual behaviors. Design We fit biometric sex limitation models to three aspects of sexual behavior reported by 4,925 Finnish twins aged 23–27. The sample, from five consecutive birth cohorts, of 2,448 twin pairs (886 sister-sister, 862 brother-sister, 700 brother-brother), included 785 monozygotic and 801 same-sex dizygotic pairs. In addition to model fitting data from twin pairs, we conducted analyses on twins as individuals to test for independence of initiation of sexual behavior from onset age and number of partners. Main Outcome Measures From a postal questionnaire, we obtained self-report information on initiation/abstinence of sexual intercourse, onset age, and number of sexual partners. Results Genetic and non-shared environmental influences were significant for all three measures. There were trends for common environmental influences on initiation and, in females, age at first intercourse. Some differential effects in males and females were found. Results comparing onset age and number of partners among experienced twins from pairs concordant and discordant for initiation found genetic and environmental influences on initiation/abstinence overlapped those found for the other aspects of sexual behavior. Conclusions These results document genetic variation in individual differences in sexual behavior of young adults. Incorporating genetic dispositions into integrated models of sexual behavior will facilitate more effective health promotion and risk taking intervention. PMID:17845112

  1. Twins reunited: scientific and personal perspectives/twin research studies: multiple birth effects on IQ and body size; life style, muscles, and metabolism; monochorionic dizygotic twin with blood chimerism; amniocentesis for twins/twins in the media: identical doctors; freedom fighter for twins; twin scholarships; Auguste and Jean-Felix Piccard; twins born apart.

    PubMed

    Segal, Nancy L; Mulligan, Christy A

    2014-04-01

    A reunion of 38-year-old female monozygotic twins took place in Daegu, South Korea, on January 14, 2014. Scientific and personal perspectives on this extraordinary event are provided. A review of timely twin research follows, covering the effects of multiple births on IQ and body size, lifestyle and physical fitness associations, a rare case of a dizygotic twin with blood chimerism and definitional issues surrounding amniocentesis-related loss in multiple birth pregnancies. Interesting and informative mention of twins in the media includes twin doctors, a twin freedom fighter, the availability of college scholarships for twins, a new book about the Piccard family (two of whose members were twins), and co-twins born before and after the new year. A follow-up to a previous mention of identical twin biatheletes is also provided. PMID:24589452

  2. [Ultrasonography of twin pregnancies].

    PubMed

    Grignon, A; Dubois, J

    2002-12-01

    Sonographers must be familiar with the diagnostic tools available to them for determining twin pregnancy type. During the first trimester, these tools include the number of chorionic sacs, the number of yolk sacs, and the presence of an inter-twin membrane. During the second trimester, sonographers must look for a difference in sex, the presence of two separate placentas, and a thick vs. thin membrane, or the absence of a membrane. Complications are frequent in twin pregnancies and may be maternal or fetal. Measuring cervical length is the only way for sonographers to predict pre-term labour. A cervical length of< or =2.5 cm before 23 weeks is significant. Some fetal anomalies are more frequent in twin pregnancy than in single pregnancy. The more frequent are: esophageal atresia, omphalocele and cardiac anomalies. Some fetal anomalies are peculiar to twin pregnancy: Siamese twins, digestive atresia, craniofacial deformation and club-foot. A significant growth asymmetry is defined as a CRL of 3 or more millimetres and a difference of 20% in weight. The poly-oligo sequence represents a severe level asymmetry of amniotic fluid in monodiamniotic twins where survival rate without sequelae is 13.6%. The twin-twin transfusion syndrome is an event occurring after the apparition of the poly-oligo sequence, which manifests by discordances in weight and hemodynamic changes leading to myocardial repercussion. Twin embolization syndrome follows the in utero death of a co-twin in a monochorionic twin pregnancy; ischemic events must be monitored in such cases. Cord entanglement is unpredictable and is specific to monochorionic monoamniotic twin pregnancies. Finally, an acardius is a parasitic twin that feeds on its co-twin, resulting in the viable twin's death in 50% of cases. PMID:12592152

  3. Childhood trauma and personality disorder criterion counts: a co-twin control analysis.

    PubMed

    Berenz, Erin C; Amstadter, Ananda B; Aggen, Steven H; Knudsen, Gun Peggy; Reichborn-Kjennerud, Ted; Gardner, Charles O; Kendler, Kenneth S

    2013-11-01

    Correlational studies consistently report relationships between childhood trauma (CT) and most personality disorder (PD) criteria and diagnoses. However, it is not clear whether CT is directly related to PDs or whether common familial factors (i.e., shared environment and/or genetic factors) better account for that relationship. The current study used a cotwin control design to examine support for a direct effect of CT on PD criterion counts. Participants were from the Norwegian Twin Registry (N = 2,780), including a subset (n = 898) of twin pairs (449 pairs, 45% monozygotic [MZ]) discordant for CT meeting DSM-IV Posttraumatic Stress Disorder Criterion A. All participants completed the Norwegian version of the Structured Interview for DSM-IV Personality. Significant associations between CT and all PD criterion counts were detected in the general sample; however, the magnitude of observed effects was small, with CT accounting for no more than approximately 1% of variance in PD criterion counts. A significant, yet modest, interactive effect was detected for sex and CT on Schizoid and Schizotypal PD criterion counts, with CT being related to these disorders among women but not men. After common familial factors were accounted for in the discordant twin sample, CT was significantly related to Borderline and Antisocial PD criterion counts, but no other disorders; however, the magnitude of observed effects was quite modest (r2 = .006 for both outcomes), indicating that the small effect observed in the full sample is likely better accounted for by common genetic and/or environmental factors. CT does not appear to be a key factor in PD etiology. PMID:24364608

  4. Head Circumferences in Twins with and without Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Froehlich, Wendy; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A.; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K.; Hallmayer, Joachim

    2013-01-01

    To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20% of males and 27%…

  5. Variations in the Binary Conception Model in Twinning.

    ERIC Educational Resources Information Center

    Lord, Thomas R.

    1988-01-01

    Presents a brief summary of the transformation of a single fertilized ovum into a multi-celled human. Discusses the similarities and differences of identical and non-identical twins. Cites twin pairs that do not neatly fit the monozygotic or dizygotic schemes of human development. (RT)

  6. The Heritability of Inhibited and Uninhibited Behavior: A Twin Study.

    ERIC Educational Resources Information Center

    Robinson, JoAnn L.; And Others

    1992-01-01

    Behaviors of monozygotic and dizygotic twins that were indicative of wariness were observed when the twins were 14, 20, and 24 months of age. An index of inhibition constructed from observations showed internal consistency at all ages and stability across ages. Heritability was a factor at all ages. (BC)

  7. The USC Adult Twin Cohorts: International Twin Study and California Twin Program.

    PubMed

    Cozen, Wendy; Hwang, Amie E; Cockburn, Myles G; Hamilton, Ann S; Zadnick, John; Mack, Thomas M

    2013-02-01

    The study of twin subjects permits the documentation of crude heritability and may promote the identification of specific causal alleles. We believe that at the current time, the chief research advantage of twins as subjects, especially monozygotic twins, is that the commonality of their genetic and cultural identity simplifies the interpretation of biological associations. In order to study genetic and environmental determinants of cancer and chronic diseases, we developed two twin registries, maintained at the University of Southern California: The International Twin Study (ITS) and the California Twin Program (CTP). The ITS is a volunteer registry of twins with cancer and chronic disease consisting of 17,245 twin pairs affected by cancer and chronic disease, respectively, ascertained by advertising in periodicals from 1980-1991. The CTP is a population-based registry of California-born twin pairs ascertained by linking the California birth records to the State Department of Motor Vehicles. Over 51,000 individual California twins representing 36,965 pairs completed and returned 16-page questionnaires. Cancer diagnoses in the California twins are updated by regular linkage to the California Cancer Registry. Over 5,000 cancer patients are represented in the CTP. Twins from both registries have participated extensively in studies of breast cancer, melanoma, lymphoma, multiple sclerosis, systemic lupus erythematosus, diabetes mellitus type 1, mammographic density, smoking, and other traits and conditions. PMID:23218448

  8. Kicking Back Cognitive Ageing: Leg Power Predicts Cognitive Ageing after Ten Years in Older Female Twins

    PubMed Central

    Steves, Claire J.; Mehta, Mitul M.; Jackson, Stephen H.D.; Spector, Tim D.

    2016-01-01

    Background Many observational studies have shown a protective effect of physical activity on cognitive ageing, but interventional studies have been less convincing. This may be due to short time scales of interventions, suboptimal interventional regimes or lack of lasting effect. Confounding through common genetic and developmental causes is also possible. Objectives We aimed to test whether muscle fitness (measured by leg power) could predict cognitive change in a healthy older population over a 10-year time interval, how this performed alongside other predictors of cognitive ageing, and whether this effect was confounded by factors shared by twins. In addition, we investigated whether differences in leg power were predictive of differences in brain structure and function after 12 years of follow-up in identical twin pairs. Methods A total of 324 healthy female twins (average age at baseline 55, range 43-73) performed the Cambridge Neuropsychological Test Automated Battery (CANTAB) at two time points 10 years apart. Linear regression modelling was used to assess the relationships between baseline leg power, physical activity and subsequent cognitive change, adjusting comprehensively for baseline covariates (including heart disease, diabetes, blood pressure, fasting blood glucose, lipids, diet, body habitus, smoking and alcohol habits, reading IQ, socioeconomic status and birthweight). A discordant twin approach was used to adjust for factors shared by twins. A subset of monozygotic pairs then underwent magnetic resonance imaging. The relationship between muscle fitness and brain structure and function was assessed using linear regression modelling and paired t tests. Results A striking protective relationship was found between muscle fitness (leg power) and both 10-year cognitive change [fully adjusted model standardised β-coefficient (Stdβ) = 0.174, p = 0.002] and subsequent total grey matter (Stdβ = 0.362, p = 0.005). These effects were robust in discordant

  9. Language Preference and Communication Development of a Hearing and Deaf Twin Pair.

    ERIC Educational Resources Information Center

    Gaines, Rosslyn; Halpern-Felsher, Bonnie L.

    1995-01-01

    This observational study examined the development and use of communication in a pair of deaf and hearing monozygotic twins from 13 to 36 months of age. Both children were enrolled in a total communication preschool program. In contrast to the hearing twin, the deaf twin used imitative (rather than responsive) signs and gestures. (Author/DB)

  10. Atrioventricular Nodal Re-entry Tachycardia in Identical Twins: A Case Report and Literature Review.

    PubMed

    Barake, Walid; Caldwell, Jane; Baranchuk, Adrian

    2013-01-01

    This report details the case of 17 year old identical twins who both presented with paroxysmal supraventricular tachycardia (PSVT). Electrophysiological studies revealed atrioventricular nodal reentry tachycardia (AVNRT) in both twins. Successful but technically challenging slow pathway ablation was performed in both twins. This is the first reported case of confirmed AVNRT in identical twins which adds strong evidence to heritability of the dual AV node physiology and AVNRT. A review of the current literature regarding PSVT in monozygotic twins is provided. PMID:23329875

  11. A Pediatric Twin Study of Brain Morphometry

    ERIC Educational Resources Information Center

    Wallace, Gregory L.; Schmitt, J. Eric; Lenroot, Rhoshel; Viding, Essi; Ordaz, Sarah; Rosenthal, Michael A.; Molloy, Elizabeth A.; Clasen, Liv S.; Kendler, Kenneth S.; Neale, Michael C.; Giedd, Jay N.

    2006-01-01

    Background: Longitudinal pediatric neuroimaging studies have demonstrated increasing volumes of white matter and regionally-specific inverted U shaped developmental trajectories of gray matter volumes during childhood and adolescence. Studies of monozygotic and dyzygotic twins during this developmental period allow exploration of genetic and…

  12. Gleanings from Identical Twins Studying Science.

    ERIC Educational Resources Information Center

    Mascazine, John R.

    This paper explains and summarizes the results of a study that investigated the ways in which monozygotic (identical) and dizygotic (fraternal) twins learn. Their individual learning style elements were specifically investigated according to the Dunn and Dunn model. This paper discusses the themes, unique needs, and characteristics monozygotic…

  13. A Twin Protection Effect? Explaining Twin Survival Advantages with a Two-Process Mortality Model

    PubMed Central

    2016-01-01

    Twin studies that focus on the correlation in age-at-death between twin pairs have yielded important insights into the heritability and role of genetic factors in determining lifespan, but less attention is paid to the biological and social role of zygosity itself in determining survival across the entire life course. Using data from the Danish Twin Registry and the Human Mortality Database, we show that monozygotic twins have greater cumulative survival proportions at nearly every age compared to dizygotic twins and the Danish general population. We examine this survival advantage by fitting these data with a two-process mortality model that partitions survivorship patterns into extrinsic and intrinsic mortality processes roughly corresponding to acute, environmental and chronic, biological origins. We find intrinsic processes confer a survival advantage at older ages for males, while at younger ages, all monozygotic twins show a health protection effect against extrinsic death akin to a marriage protection effect. While existing research suggests an increasingly important role for genetic factors at very advanced ages, we conclude that the social closeness of monozygotic twins is a plausible driver of the survival advantage at ages <65. PMID:27192433

  14. Siamese twins--prenatal diagnosis in the first trimester of pregnancy. Case study and review.

    PubMed

    Krawczyk, Józef; Borowski, Dariusz; Węgrzyn, Piotr; Drews, Krzysztof

    2015-06-01

    Conjoined twins are a unique type of monozygotic twins. All monozygotic twins should be thoroughly evaluated for incomplete separation and, if incomplete separation is diagnosed, the extent of internal organ connection and the presence of additional developmental anomalies of the foetuses should be assessed. Common heart of foetuses is particularly difficult to diagnose and crucial for prognosis. We present an example of female thoracoomohalopagus twins with a common triventricular heart, connate livers, and joined hepatic vessels, diagnosed in week 12 of pregnancy Due to the high complexity of foetal connection, separation was not possible and following interdisciplinary consultation, the pregnancy was aborted upon the patient's request in week 16. PMID:26255459

  15. Long-term physical activity modulates brain processing of somatosensory stimuli: Evidence from young male twins.

    PubMed

    Tarkka, Ina M; Savić, Andrej; Pekkola, Elina; Rottensteiner, Mirva; Leskinen, Tuija; Kaprio, Jaakko; Kujala, Urho M

    2016-05-01

    Leisure-time physical activity is a key contributor to physical and mental health. Yet the role of physical activity in modulating cortical function is poorly known. We investigated whether precognitive sensory brain functions are associated with the level of physical activity. Physical activity history (3-yr-LTMET), physiological measures and somatosensory mismatch response (sMMR) in EEG were recorded in 32 young healthy twins. In all participants, 3-yr-LTMET correlated negatively with body fat%, r=-0.77 and positively with VO2max, r=0.82. The fat% and VO2max differed between 15 physically active and 17 inactive participants. Trend toward larger sMMR was seen in inactive compared to active participants. This finding was significant in a pairwise comparison of 9 monozygotic twin pairs discordant for physical activity. Larger sMMR reflecting stronger synchronous neural activity may reveal diminished gating of precognitive somatosensory information in physically inactive healthy young men compared to the active ones possibly rendering them more vulnerable to somatosensory distractions from their surroundings. PMID:26860901

  16. Different Origin of Auditory and Phonological Processing Problems in Children with Language Impairment: Evidence from a Twin Study.

    ERIC Educational Resources Information Center

    Bishop, D. V. M.; Bishop, Sonia J.; Bright, Peter; James, Cheryl; Delaney, Tom; Tallal, Paula

    1999-01-01

    A study involving 55 children with a language impairment and 76 with normal language investigated the heritability of auditory processing impairment in same-sex twins (ages 7 to 13, selected from a sample of 37 pairs). Although correlations between co-twins were high, lack of significant difference between monozygotic and dizygotic twins suggested…

  17. Twinship as a resource: zygosity- and gender-based comparison of twins' attitudes toward twinship.

    PubMed

    Hegedűs, Rita; Pári, András; Drjenovszky, Zsófia; Kónya, Hanna

    2014-10-01

    Aiming to perform the first sociological survey of Hungarian twins, our main question was whether being a twin has positive consequences on one's life. Adult twins completed our questionnaire at three Hungarian summer twin festivals, in hospitals during medical twin studies, and on some websites online. Data represent 140 twin pairs (mean age: 38.2 ± 14.6 years). We employed some indices for measuring the resource nature of twinship. Three main types of benefits were distinguished: profit of attraction, as 'material capital'; the easier obtainability of cultural goods when twins take part in it, as 'cultural capital'; and positive aspects of an a priori existing dyadic relation, as 'relational capital'. We were interested in the difference among types of twins regarding advantages. We paid special attention to the five groups of twins derived from gender and zygosity (i.e., monozygotic females, monozygotic males, dizygotic females, dizygotic males, opposite-sex pairs). Our analysis showed that Hungarian twins involved in our research basically enjoy their twinship; during their lives they used and still make use of different benefits given by it. In our twin samples, women had more advantages from being a twin than men. Significant differences could be observed on all indicators between monozygotic and dizygotic twins. PMID:25111726

  18. Marital Conflict and Conduct Problems in Children of Twins

    ERIC Educational Resources Information Center

    Harden, K. Paige; Turkheimer, Eric; Emery, Robert E.; D'Onofrio, Brian M.; Slutske, Wendy S.; Heath, Andrew C.; Martin, Nicholas G.

    2007-01-01

    The Children-of-Twins design was used to test whether associations between marital conflict frequency and conduct problems can be replicated within the children of discordant twin pairs. A sample of 2,051 children (age 14-39 years) of 1,045 twins was used to estimate the genetic and environmental influences on marital conflict and determine…

  19. Neonatal Temperament in Monozygotic and Dizygotic Twin Pairs.

    ERIC Educational Resources Information Center

    Reise, Marilyn L.

    1990-01-01

    Findings indicated that zygosity was not related to behavioral scores during the neonatal period, and that environment substantially influenced neonatal temperament. Specific perinatal indicators of risk were found to account for some of the intrapair differences in behavioral variables. (RH)

  20. PennTwins: A Population-Based Cohort for Twin Studies

    PubMed Central

    Coccaro, Emil F.; Jacobson, Kristen C.

    2014-01-01

    The current article describes the creation and composition of the PennTwins Cohort and provides details on the demographic characteristics of the sample. The PennTwins Cohort was developed using a population-based method of ascertainment and currently has 9401 28- to 47-year-old twins, including 2225 confirmed twin pairs and 4951 twins whose co-twins have not yet registered. Zygosity data have been used to identify 919 monozygotic, 634 same-sex dizygotic, and 445 opposite-sex dizygotic pairs. GeoCode data on gender, age, and certain demographic characteristics were obtained for the addresses of all twins who were mailed invitations to be part of the cohort. Analysis of the available data show only very small differences between twins who are currently part of the PennTwins Cohort and potential twins who either did not respond to recruitment or who could not be located. Similarly, only very small demographic differences exist between twins from complete pairs and twins whose co-twins are not yet registered, and there are no differences across zygosity. Thus, despite a relatively low overall response rate (12% of all twins born in Pennsylvania from 1959–1978), there is no evidence that the sample differs in any meaningful respect from the larger population. PMID:17254443

  1. Maternal age at first birth and offspring criminality: using the children of twins design to test causal hypotheses.

    PubMed

    Coyne, Claire A; Långström, Niklas; Rickert, Martin E; Lichtenstein, Paul; D'Onofrio, Brian M

    2013-02-01

    Teenage childbirth is a risk factor for poor offspring outcomes, particularly offspring antisocial behavior. It is not clear, however, if maternal age at first birth (MAFB) is causally associated with offspring antisocial behavior or if this association is due to selection factors that influence both the likelihood that a young woman gives birth early and that her offspring engage in antisocial behavior. The current study addresses the limitations of previous research by using longitudinal data from Swedish national registries and children of siblings and children of twins comparisons to identify the extent to which the association between MAFB and offspring criminal convictions is consistent with a causal influence and confounded by genetic or environmental factors that make cousins similar. We found offspring born to mothers who began childbearing earlier were more likely to be convicted of a crime than offspring born to mothers who delayed childbearing. The results from comparisons of differentially exposed cousins, especially born to discordant monozygotic twin sisters, provide support for a causal association between MAFB and offspring criminal convictions. The analyses also found little evidence for genetic confounding due to passive gene-environment correlation. Future studies are needed to replicate these findings and to identify environmental risk factors that mediate this causal association. PMID:23398750

  2. Twin studies reveal specific imbalances in the mucosa-associated microbiota of patients with ileal Crohn's disease

    SciTech Connect

    Willing, B.; Halfvarson, J.; Dicksved, J.; Rosenquist, M.; Jarnerot, G.; Engstrand, L.; Tysk, C.; Jansson, J. K

    2008-08-15

    Large inter-individual variation in the composition of the intestinal microbiota between unrelated individuals has made it challenging to identify specific aspects of dysbiosis that lead to Crohn's disease. To reduce variations in exposure during establishment of the gut flora and influence of genotype, we studied the mucosaassociated microbiota of monozygotic twin pairs that were discordant (n=6) or concordant (n=4) for Crohn's disease. DNA was extracted from biopsies collected from 5 locations between the ileum and rectum. Bacterial 16S ribosomal RNA genes were amplified and community composition assessed by terminal-restriction fragment length polymorphism, cloning and sequencing and quantitative real-time PCR. The microbial compositions at all biopsy locations for each individual were similar, regardless of disease state, but there were differences between individuals. In particular, individuals with predominantly ileal Crohn's had a dramatically lower abundance (P<0.001) of Faecalibacterium prausnitzii and increased abundance (P<0.03) of Escherichia coli compared to healthy co-twins and those with Crohn's localized in the colon. This dysbiosis was significantly correlated to the disease phenotype rather than genotype. The reduced abundance of F. prausnitzii and increased abundance of E. coli are indicative of an ileal Crohn's disease phenotype, distinct from colonic Crohn's disease and the relative abundances of these specific bacterial populations are promising biomarker candidates for differential diagnosis of Crohn's and eventually customized treatment.

  3. Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis

    PubMed Central

    Alexander, Eileen S.; Martin, Lisa J.; Collins, Margaret H.; Kottyan, Leah; Sucharew, Heidi; He, Hua; Mukkada, Vincent A.; Succop, Paul A.; Abonia, J. Pablo; Foote, Heather; Eby, Michael D.; Grotjan, Tommie M.; Greenler, Alexandria J.; Dellon, Evan S.; Demain, Jeffrey G.; Furuta, Glenn T.; Gurian, Larry E.; Harley, John B.; Hopp, Russell J.; Kaul, Ajay; Nadeau, Kari C.; Noel, Richard J.; Putnam, Philip E.; von Tiehl, Karl F.; Rothenberg, Marc E.

    2014-01-01

    Background Eosinophilic esophagitis (EoE) is a chronic antigen-driven allergic inflammatory disease, likely involving the interplay of genetic and environmental factors, yet their respective contributions to heritability are unknown. Objective To quantify risk associated with genes and environment on familial clustering of EoE. Methods Family history was obtained from a hospital-based cohort of 914 EoE probands, (n=2192 first-degree “Nuclear-Family” relatives) and the new international registry of monozygotic and dizygotic twins/triplets (n=63 EoE “Twins” probands). Frequencies, recurrence risk ratios (RRRs), heritability and twin concordance were estimated. Environmental exposures were preliminarily examined. Results Analysis of the Nuclear-Family–based cohort revealed that the rate of EoE, in first-degree relatives of a proband, was 1.8% (unadjusted) and 2.3% (sex-adjusted). RRRs ranged from 10–64, depending on the family relationship, and were higher in brothers (64.0; p=0.04), fathers (42.9; p=0.004) and males (50.7; p<0.001) compared to sisters, mothers and females, respectively. Risk of EoE for other siblings was 2.4%. In the Nuclear-Families, combined gene and common environment heritability (hgc2) was 72.0±2.7% (p<0.001). In the Twins cohort, genetic heritability was 14.5±4.0% (p<0.001), and common family environment contributed 81.0±4% (p<0.001) to phenotypic variance. Proband-wise concordance in MZ co-twins was 57.9±9.5% compared to 36.4±9.3% in DZ (p=0.11). Greater birth-weight difference between twins (p=0.01), breastfeeding (p=0.15) and Fall birth season (p=0.02) were associated with twin discordance in disease status. Conclusions EoE recurrence risk ratios are increased 10–64-fold compared with the general population. EoE in relatives is 1.8–2.4%, depending upon relationship and sex. Nuclear-Family heritability appeared to be high (72.0%). However, Twins cohort analysis revealed a powerful role for common environment (81

  4. Brief Report: On the Concordance Percentages for Autistic Spectrum Disorder of Twins

    ERIC Educational Resources Information Center

    Bohm, Henry V.; Stewart, Melbourne G.

    2009-01-01

    In the development of genetic theories of Autistic Spectrum Disorder (ASD) various characteristics of monozygotic (MZ) and dizygotic (DZ) twins are often considered. This paper sets forth a possible refinement in the interpretation of the MZ twin concordance percentages for ASD underlying such genetic theories, and, drawing the consequences from…

  5. Twin Study on Heritability of Activity, Attention, and Impulsivity as Assessed by Objective Measures

    ERIC Educational Resources Information Center

    Heiser, Philip; Heinzel-Gutenbrunner, Monika; Frey, Joachim; Smidt, Judith; Grabarkiewicz, Justyna; Friedel, Susann; Kuhnau, Wolfgang; Schmidtke, Jorg; Remschmidt, Helmut; Hebebrand, Johannes

    2006-01-01

    Objective: The purpose of this study was to assess heritability of activity, attention, and impulsivity by comparing young monozygotic (MZ) twins with dizygotic (DZ) twins using objective measures. Method: The OPTAx test is an infrared motion analysis to record the movement pattern during a continuous performance test. Seventeen MZ and 12 same…

  6. Mental Representations of Attachment in Identical Female Twins with and without Conduct Problems

    ERIC Educational Resources Information Center

    Constantino, John N.; Chackes, Laura M.; Wartner, Ulrike G.; Gross, Maggie; Brophy, Susan L.; Vitale, Josie; Heath, Andrew C.

    2006-01-01

    Insecure mental representations of attachment, a nearly invariant feature of cluster B personality disorders, have never previously been studied in twins. We conducted the Adult Attachment Interview (AAI) on 33 pairs of monozygotic (MZ) female twins reared together as an initial exploration of causal influences on mental representations of…

  7. Familial Resemblance for Measures of Reading Performance in Families of Reading-Disabled and Control Twins.

    ERIC Educational Resources Information Center

    Alarcon, Maricela; And Others

    1994-01-01

    Finds that parent-offspring resemblance in families of reading-disabled probands does not differ substantially from that in families of controls; and correlations and regressions for monozygotic twins are greater than those for dizygotic twins, suggesting that individual differences in reading achievement are due in part to heritable influences.…

  8. Adolescent Twins and Emotional Distress: The Interrelated Influence of Nonshared Environment and Social Structure.

    ERIC Educational Resources Information Center

    Crosnoe, Robert; Elder, Glen H., Jr.

    2002-01-01

    This study examined the power of nonshared environment to differentiate adolescent monozygotic twin development and the extent to which this power varied across social structural contexts. Findings indicated that differences in maternal closeness, teacher bonding, and religious participation differentiated twins on emotional distress. Family…

  9. Movement Disorders in a Twins Pair: A Casual Expression or Genetic Determination?

    ERIC Educational Resources Information Center

    Gennaro, Leonarda; Russo, Luigi; Losito, Luciana; Zaccaria, Alessia; De Rinaldis, Marta; Trabacca, Antonio

    2010-01-01

    A twin study is an excellent means of assessing the contribution of heritability to motor behaviour. We present a movement video-analysis of a monozygotic twins pair with a motor repertoire which is almost totally constituted by persistent and subcontinuous motor stereotypies. Purpose: The specific aim of this study is to verify the heritable…

  10. Seeking the Cause of Correlations among Mental Abilities: Large Twin Analysis in a National Testing Program.

    ERIC Educational Resources Information Center

    Page, Ellis B.; Jarjoura, David

    1979-01-01

    A computer scan of ACT Assessment records identified 3,427 sets of twins. The Hardy-Weinberg rule was used to estimate the proportion of monozygotic twins in the sample. Matrices of genetic and environmental influences were produced. The heaviest loadings were clearly in the genetic matrix. (SJL)

  11. A Twin-Sibling Study of Observed Parent-Adolescent Interactions.

    ERIC Educational Resources Information Center

    O'Connor, Thomas G.; And Others

    1995-01-01

    The mother, father, and adolescent siblings from 675 families were observed interacting in problem-solving sessions. Siblings were monozygotic twins, dyzygotic twins, or full siblings in nondivorced families and full, half, and unrelated siblings in stepfamilies. Results suggested a greater genetic component to adolescent behavior than to parent…

  12. The Equal Environments Assumption of Classical Twin Studies May Not Hold

    ERIC Educational Resources Information Center

    Richardson, Ken; Norgate, Sarah

    2005-01-01

    The classical twin method -- comprising comparisons of monozygotic (MZ) and dizygotic (DZ) twins -- in the domain of cognitive abilities and attainments has led to wide acceptance of results suggesting a large amount of additive genetic variance, with far-reaching implications both for the nature of future studies on the causes of cognitive…

  13. Monthly trend and seasonal variation in twinning rate in Japan, 1975-1994

    NASA Astrophysics Data System (ADS)

    Nonaka, K.; Imaizumi, Yoko

    We examined birth records from Japanese statistics, 1975-1994, to investigate the seasonality of twin births. We could identify 198 924 pairs of twins (97.9% of all the registered twin records) and estimated the numbers of mono- and dizygotic twin pairs. The seasonal index of the twinning rate for each month was calculated by dividing the crude rate by the estimated trend value for the month. There were significant variations in the seasonal index for overall, dizygotic and monozygotic twinning rates. Peak months with values more than 3% higher than expected were July and October-December for dizygotic twins, and April and June for monozygotic twins; these seasonalities were statistically significant by analysis of variance and the patterns were similar in recent years, with a sharp increase in the total twinning rate. When observed year-by-year, however, there were years that did not show these typical seasonalities. It is suggested that the mechanisms for probable seasonal variations in twinning rates are different for dizygotic and monozygotic twin pregnancies, and that factors involved in these variations are not effective every year.

  14. Twin Mitochondrial Sequence Analysis.

    PubMed

    Bouhlal, Yosr; Martinez, Selena; Gong, Henry; Dumas, Kevin; Shieh, Joseph T C

    2013-09-01

    When applying genome-wide sequencing technologies to disease investigation, it is increasingly important to resolve sequence variation in regions of the genome that may have homologous sequences. The human mitochondrial genome challenges interpretation given the potential for heteroplasmy, somatic variation, and homologous nuclear mitochondrial sequences (numts). Identical twins share the same mitochondrial DNA (mtDNA) from early life, but whether the mitochondrial sequence remains similar is unclear. We compared an adult monozygotic twin pair using high throughput-sequencing and evaluated variants with primer extension and mitochondrial pre-enrichment. Thirty-seven variants were shared between the twin individuals, and the variants were verified on the original genomic DNA. These studies support highly identical genetic sequence in this case. Certain low-level variant calls were of high quality and homology to the mitochondrial DNA, and they were further evaluated. When we assessed calls in pre-enriched mitochondrial DNA templates, we found that these may represent numts, which can be differentiated from mtDNA variation. We conclude that twin identity extends to mitochondrial DNA, and it is critical to differentiate between numts and mtDNA in genome sequencing, particularly since significant heteroplasmy could influence genome interpretation. Further studies on mtDNA and numts will aid in understanding how variation occurs and persists. PMID:24040623

  15. Art for twins: Yorùbá artists and their statues/twin research studies: twins' education and conceptions; diurnal preference; inherited eye diseases; ultrasound counseling when twins are conjoined/popular twin reports: twin sisters (the film); rare pregnancy; diet test; French twins reared apart and reunited.

    PubMed

    Segal, Nancy L

    2014-06-01

    The Yorùbá of Nigeria are well known for their high twinning rate and the statues they create to commemorate deceased twins. An impressive collection of this artwork was displayed at the University of California's Fowler Museum in Los Angeles between October 13, 2013 and March 2, 2014. An overview of this exhibit is provided. Next, twin research on maternal education and conception, diurnal preference, inherited eye diseases, and ultrasound counseling for couples with conjoined twins are briefly summarized. This article concludes with a discussion of media-based items related to twins. The topics include an award-winning twin film, a rare pregnancy, a diet test, and the separation and chance reunion of monozygotic female twins. PMID:24774649

  16. Zygosity of twins: is it time for a new terminology?

    PubMed

    Oleszczuk, J J; Machin, G A; Keith, D M; Keith, L G

    2000-11-01

    The term zygosity reflects the origin of twins--when twins are monozygotic, they are derived from a single fertilized ovum; when twins are dizygotic--the come from two fertilized ova. Zygosity assessment seemed straightforward 50 years ago. Currently, as more information and more technology becomes available, zygosity testing becomes a real problem. It is important to realize the importance of correct zygosity testing not only in the antepartum care of the pregnant mother, but more importantly--during the whole lifetime of twin individuals. This paper discusses revolving around zygosity, methods of assessment, their limitations and proposes new terminology which incorporates the recent knowledge about early human development. PMID:11216134

  17. DYZ1 arrays show sequence variation between the monozygotic males

    PubMed Central

    2014-01-01

    Background Monozygotic twins (MZT) are an important resource for genetical studies in the context of normal and diseased genomes. In the present study we used DYZ1, a satellite fraction present in the form of tandem arrays on the long arm of the human Y chromosome, as a tool to uncover sequence variations between the monozygotic males. Results We detected copy number variation, frequent insertions and deletions within the sequences of DYZ1 arrays amongst all the three sets of twins used in the present study. MZT1b showed loss of 35 bp compared to that in 1a, whereas 2a showed loss of 31 bp compared to that in 2b. Similarly, 3b showed 10 bp insertion compared to that in 3a. MZT1a germline DNA showed loss of 5 bp and 1b blood DNA showed loss of 26 bp compared to that of 1a blood and 1b germline DNA, respectively. Of the 69 restriction sites detected in DYZ1 arrays, MboII, BsrI, TspEI and TaqI enzymes showed frequent loss and or gain amongst all the 3 pairs studied. MZT1 pair showed loss/gain of VspI, BsrDI, AgsI, PleI, TspDTI, TspEI, TfiI and TaqI restriction sites in both blood and germline DNA. All the three sets of MZT showed differences in the number of DYZ1 copies. FISH signals reflected somatic mosaicism of the DYZ1 copies across the cells. Conclusions DYZ1 showed both sequence and copy number variation between the MZT males. Sequence variation was also noticed between germline and blood DNA samples of the same individual as we observed at least in one set of sample. The result suggests that DYZ1 faithfully records all the genetical changes occurring after the twining which may be ascribed to the environmental factors. PMID:24495361

  18. Four twins for a paradox: On ``sensitive'' twins and the biological counterpart of the ``twin paradox''

    NASA Astrophysics Data System (ADS)

    Ascioti, Fortunato A.

    2009-03-01

    Monozygotic twin (MZT) epigenetic development, i.e., aging, diverges largely in time despite the initially very small genetic differences between MZTs. This fact is interpreted as a "sensitivity to initial conditions" phenomenon, a common property of either deterministic or stochastic chaotic systems. Some of the biotheoretical implications stemming from this empirical observation are briefly discussed here, while an actual measure of MZT epigenetic time divergence is given through an estimate of the (Stochastic) Lyapunov exponents (LEs) (i.e., the rate of exponential time divergence). These results suggest a reconsideration of the Langevin-Einstein thought experiment known as the "twin paradox." At least four twins are necessary in order to take into account the inertially independent divergent aging described here. Alternatively, LE estimates, like those given here, should be used. Finally suggested in the actual special-relativity experiments is the replacement of clocks with some nonlinear (chaotic) forced oscillator.

  19. Four twins for a paradox: on "sensitive" twins and the biological counterpart of the "twin paradox".

    PubMed

    Ascioti, Fortunato A

    2009-03-01

    Monozygotic twin (MZT) epigenetic development, i.e., aging, diverges largely in time despite the initially very small genetic differences between MZTs. This fact is interpreted as a "sensitivity to initial conditions" phenomenon, a common property of either deterministic or stochastic chaotic systems. Some of the biotheoretical implications stemming from this empirical observation are briefly discussed here, while an actual measure of MZT epigenetic time divergence is given through an estimate of the (Stochastic) Lyapunov exponents (LEs) (i.e., the rate of exponential time divergence). These results suggest a reconsideration of the Langevin-Einstein thought experiment known as the "twin paradox." At least four twins are necessary in order to take into account the inertially independent divergent aging described here. Alternatively, LE estimates, like those given here, should be used. Finally suggested in the actual special-relativity experiments is the replacement of clocks with some nonlinear (chaotic) forced oscillator. PMID:19334992

  20. Peer Network Overlap in Twin, Sibling, and Friend Dyads

    ERIC Educational Resources Information Center

    McGuire, Shirley; Segal, Nancy L.

    2013-01-01

    Research suggests that sibling–peer connections are important for understanding adolescent problem behaviors. Using a novel behavioral genetic design, the current study investigated peer network overlap in 300 child–child pairs (aged 7-13 years) in 5 dyad types: monozygotic (MZ), dizygotic twins, full siblings (FSs), friend pairs, and virtual…

  1. Conjoined twins in a monochorionic triplet pregnancy after in vitro fertilization: a case report

    PubMed Central

    Talebian, Marzieh; Rahimi-Sharbaf, Fatemeh; Shirazi, Mahboobeh; Teimoori, Batool; Izadi-mood, Narges; Sarmadi, Soheila

    2015-01-01

    Background: Monozygotic monochorionic triplet pregnancy with conjoined twins is a very rare condition and is associated with many complications. Case: In this study, we describe a monochorionic–diamniotic triplet pregnancy after in vitro fertilization with an intracytoplasmic sperm injection. At a gestational age of 6 weeks and 4 days of pregnancy one gestational sac was observed, and at a gestational age of 12 weeks and 2 days, triplets with conjoined twins were diagnosed. After consulting with the parents, they chose fetal reduction of the conjoined twins. Selective feticide was successfully performed by radiofrequency ablation at 16 weeks of pregnancy. Unfortunately, the day after the procedure, the membrane ruptured, and 1 week later, all fetuses and placenta were spontaneously aborted. Conclusion: Monochorionic triplet pregnancy with conjoined twins is very rare. These pregnancies are associated with very serious complications. Intra cytoplasmic sperm injection increases the rate of monozygotic twinning and conjoined twins. Counseling with parents before IVF is very important. PMID:26730249

  2. [PROBLEMS OF NEWBORN NEONATAL ADAPTATION FROM A TWINS].

    PubMed

    Nikitina, I; Boykо, V; Babar, T; Kalashnik, N; Yezhova, A

    2016-04-01

    The clinical analysis of multiple pregnancies. The features of neonatal adaptation process in 96 twins, depending on the type of zygosity. It is proved that the adaptation of the newborn with multiple pregnancy depends on the type of placentation. It is found that monozygotic twins is a risk factor syndromes disadaptation. Children from monozygotic twins compared with dizygotic twins have a higher frequency of the syndrome of respiratory disorders, and more prone to jaundice, hemorrhagic syndrome, violation gemolikvorodinamics II and III degrees. The physical development of the twins also determined by the type zygosity. In the group of monozygotic twins are more common heavier versions of intrauterine growth retardation - hypoplastic and dysplastic. The high frequency of asphyxia on the background of immaturity that leads to the development disadaptation syndromes in these children, the most common of which are hypoxic-ischemic CNS disorders, thermoregulation, jaundice and gastrointestinal reactions. Detection disorders of blood coagulation and glucose metabolism certainly play a negative role in the development of adaptation of these newborns. zygosity type must be determined at the time of pregnancy to produce medical tactics and prognosis. PMID:27249428

  3. Inspection Time and Cognitive Abilities in Twins Aged 7 to 17 Years: Age-Related Changes, Heritability and Genetic Covariance

    ERIC Educational Resources Information Center

    Edmonds, Caroline J.; Isaacs, Elizabeth B.; Visscher, Peter M.; Rogers, Mary; Lanigan, Julie; Singhal, Atul; Lucas, Alan; Gringras, Paul; Denton, Jane; Deary, Ian J.

    2008-01-01

    We studied the age-related differences in inspection time and multiple cognitive domains in a group of monozygotic (MZ) and dizygotic (DZ) twins aged 7 to 17 years. Data from 111 twin pairs and 19 singleton siblings were included. We found clear age-related trends towards more efficient visual information processing in older participants. There…

  4. Determining the Minimum Amount of Phonetic Analysis Needed for Word Decoding Using the Co-twin Method.

    ERIC Educational Resources Information Center

    Inselberg, Rachel; And Others

    To determine the degree of emphasis on phonics instruction necessary for beginning readers, a study was conducted involving five pairs of four-year-old monozygotic twins. Randomly selected twins from each pair were exposed to two different levels of phonics instruction. In one group, the reduced treatment group, only one sound equivalent per…

  5. Twins and the paradox of dental-age estimations: a caution for researchers and clinicians.

    PubMed

    Pechníková, M; De Angelis, D; Gibelli, D; Vecchio, V; Cameriere, R; Zeqiri, B; Cattaneo, C

    2014-08-01

    The biological age difference among twins is frequently an issue in studies of genetic influence on various dental features, particularly dental development. The timing of dental development is a crucial issue also for many clinicians and researchers. The aim of this study was therefore to verify within groups of twins how dental development differs, by applying Demirjian's method, Mincer's charts of development of third molars and two of Cameriere's methods for dental age estimation, which are among the most popular methods both in the clinical and the forensic scenario. The sample consisted of 64 twin pairs: 21 monozygotic, 30 dizygotic same-sex and 13 dizygotic opposite-sex with an age range between 5.8 and 22.6 years. Dental age was determined from radiographs using the mentioned methods. Results showed that dental age of monozygotic twins is not identical even if they share all their genes. The mean intra-pair difference of monozygotic pairs was low and similar to the difference in dizygotic same-sex twins; the maximum difference between monozygotic twins, however, was surprisingly large (nearly two years). This should lead to some circumspection in the interpretation of systematic estimations of dental age both in the clinical and forensic scenario. PMID:24951409

  6. What you need to know when managing twins: 10 key facts.

    PubMed

    Simpson, Lynn L

    2015-06-01

    Twin pregnancies can be complicated. Early diagnosis with accurate dating, determination of chorionicity, screening for chromosomal and structural abnormalities, placental evaluation, and cervical length assessment should be completed in the first half of gestation. Routine fetal growth is recommended for all twins with serial surveillance for those complicated by anomalies, cervical shortening, growth disturbances, and amniotic fluid abnormalities. Twins with monochorionic placentation require heightened scrutiny for unequal placental sharing with discordant twin growth or selective intrauterine fetal growth restriction, twin-twin transfusion syndrome, twin anemia-polycythemia sequence, and single-fetal demise. Familiarity with essentials can assist practitioners involved in the management of twins. PMID:26002163

  7. Missed congenital hypothyroidism in an identical twin.

    PubMed

    Azam, Anita; Cutfield, Wayne; Mouat, Fran; Hofman, Paul L; Jefferies, Craig; Webster, Dianne; Gunn, Alistair Jan

    2012-10-01

    Newborn screening for congenital hypothyroidism has been remarkably effective, although rare cases of false negative screening have been reported in same sex twins, presumptively due to fetal blood exchange. We report a case in which the diagnosis of congenital hypothyroidism due to thyroid ectopia in a monozygotic twin was delayed by 8 months, with a normal newborn screening TSH level of 11 mIU/L blood (normal < 15 mIU/L) at 2 days of life. This is the first such case since the national New Zealand newborn screening programme introduced screening for congenital hypothyroidism in 1981 (30 years ago). Repeating thyroid studies at 14 days of age in same-sex twins has been advocated to avoid delayed diagnosis, but given the low risk, may not be cost effective. It is important to maintain a high index of suspicion in same-sex twin pregnancies of potential congenital hypothyroidism. PMID:22970836

  8. Neuropathologic assessment of dementia markers in identical and fraternal twins.

    PubMed

    Iacono, Diego; Volkman, Inga; Nennesmo, Inger; Pedersen, Nancy L; Fratiglioni, Laura; Johansson, Boo; Karlsson, David; Winblad, Bengt; Gatz, Margaret

    2014-07-01

    Twin studies are an incomparable source of investigation to shed light on genetic and non-genetic components of neurodegenerative diseases, as Alzheimer's disease (AD). Detailed clinicopathologic correlations using twin longitudinal data and post-mortem examinations are mostly missing. We describe clinical and pathologic findings of seven monozygotic (MZ) and dizygotic (DZ) twin pairs. Our findings show good agreement between clinical and pathologic diagnoses in the majority of the twin pairs, with greater neuropathologic concordance in MZ than DZ twins. Greater neuropathologic concordance was found for β-amyloid than tau pathology within the pairs. ApoE4 was associated with higher β-amyloid and earlier dementia onset, and importantly, higher frequency of other co-occurring brain pathologies, regardless of the zygosity. Dementia onset, dementia duration, difference between twins in age at dementia onset and at death, did not correlate with AD pathology. These clinicopathologic correlations of older identical and fraternal twins support the relevance of genetic factors in AD, but not their sufficiency to determine the pathology, and consequently the disease, even in monozygotic twins. It is the interaction among genetic and non-genetic risks which plays a major role in influencing, or probably determining, the degeneration of those brain circuits associated with pathology and cognitive deficits in AD. PMID:24450926

  9. Screening and Invasive Testing in Twins

    PubMed Central

    Monni, Giovanni; Iuculano, Ambra; Zoppi, Maria Angelica

    2014-01-01

    Prenatal screening and testing for trisomy 21 in twin pregnancies poses a number of challenges: the exact estimate of the a priori risk of trisomy 21, the choice of prenatal screening test and/or invasive techniques to employ for the diagnosis and the impact of the result on the options of treatment in case of discordant results within a twin pair or among multiples. These different aspects are discussed below while recognizing that many issues remain unresolved. PMID:26237482

  10. There Is a World outside of Experimental Designs: Using Twins to Investigate Causation

    ERIC Educational Resources Information Center

    Hart, Sara A.; Taylor, Jeanette; Schatschneider, Christopher

    2013-01-01

    This study introduces a co-twin control method commonly used in the medical literature but not often within educational research. This method allows for a comparison of twins discordant for an "exposure," approximating alternative outcomes in the counterfactual model. Example analyses use data drawn from the Florida Twin Project on Reading to…

  11. Quantum discord with weak measurements

    SciTech Connect

    Singh, Uttam Pati, Arun Kumar

    2014-04-15

    Weak measurements cause small change to quantum states, thereby opening up the possibility of new ways of manipulating and controlling quantum systems. We ask, can weak measurements reveal more quantum correlation in a composite quantum state? We prove that the weak measurement induced quantum discord, called as the “super quantum discord”, is always larger than the quantum discord captured by the strong measurement. Moreover, we prove the monotonicity of the super quantum discord as a function of the measurement strength and in the limit of strong projective measurement the super quantum discord becomes the normal quantum discord. We find that unlike the normal discord, for pure entangled states, the super quantum discord can exceed the quantum entanglement. Our results provide new insights on the nature of quantum correlation and suggest that the notion of quantum correlation is not only observer dependent but also depends on how weakly one perturbs the composite system. We illustrate the key results for pure as well as mixed entangled states. -- Highlights: •Introduced the role of weak measurements in quantifying quantum correlation. •We have introduced the notion of the super quantum discord (SQD). •For pure entangled state, we show that the SQD exceeds the entanglement entropy. •This shows that quantum correlation depends not only on observer but also on measurement strength.

  12. Purified discord and multipartite entanglement

    SciTech Connect

    Brown, Eric G.; Webster, Eric J.; Martín-Martínez, Eduardo; Kempf, Achim

    2013-10-15

    We study bipartite quantum discord as a manifestation of a multipartite entanglement structure in the tripartite purified system. In particular, we find that bipartite quantum discord requires the presence of both bipartite and tripartite entanglement in the purification. This allows one to understand the asymmetry of quantum discord, D(A,B)≠D(B,A) in terms of entanglement monogamy. As instructive special cases, we study discord for qubits and Gaussian states in detail. As a result of this we shed new light on a counterintuitive property of Gaussian states: the presence of classical correlations necessarily requires the presence of quantum correlations. Finally, our results also shed new light on a protocol for remote activation of entanglement by a third party. -- Highlights: •Bipartite quantum discord as a manifestation of multipartite entanglement. •Relevance of quantum discord as a utilizable resource for quantum info. tasks. •Quantum discord manifests itself in entanglement in the purified state. •Relation between asymmetry of discord and entanglement monogamy. •Protocol for remote activation of entanglement by a third party.

  13. Quantum discord and Maxwell's demons

    SciTech Connect

    Zurek, Wojciech Hubert

    2003-01-01

    Quantum discord was proposed as an information-theoretic measure of the 'quantumness' of correlations. I show that discord determines the difference between the efficiency of quantum and classical Maxwell's demons - that is, entities that can or cannot measure nonlocal observables or carry out conditional quantum operations - in extracting work from collections of correlated quantum systems.

  14. NOTE: Thrombosis of anastomoses may affect the staging sequence of twin twin transfusion syndrome

    NASA Astrophysics Data System (ADS)

    van den Wijngaard, Jeroen P. H. M.; Ross, Michael G.; van Gemert, Martin J. C.

    2008-03-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twins, which share one single monochorionic placenta. It is caused by placental anastomoses which link the two fetoplacental circulations of the twins and allow a chronic net inter-twin transfusion to develop between the fetuses. Clinical presentation of TTTS manifestations has been classified into five different stages. In this paper, we used our computational model of TTTS and examined the possible differences between chronic and rapidly increasing inter-twin transfusion in the simulated TTTS staging sequence. Our results suggest that rapid alterations in the net inter-twin transfusion, e.g. due to thrombosis of placental anastomoses, may produce a different staging sequence than in TTTS caused by chronic inter-twin transfusion. These results may aid an improved knowledge of TTTS pathophysiology under conditions of a rapidly changing cardiovascular function, and contribute to the planning of optimal intervention under such circumstances. Supported in part by the European Community Euro-twin-2-twin project (JPHMvdW) and by the National Institutes of Health, grant HL40899 (MGR).

  15. Evidence for higher heritability of somatotype compared to body mass index in female twins.

    PubMed

    Reis, Victor Machado; Machado, João V; Fortes, Marcos S; Fernandes, Paula Roquetti; Silva, António José; Dantas, Paulo Silva; Filho, José Fernandes

    2007-01-01

    The influence of genetics on human physique and obesity has been addressed by the literature. Evidence for heritability of anthropometric characteristics has been previously described, mainly for the body mass index (BMI). However, few studies have investigated the influence of genetics on the Heath-Carter somatotype. The aim of the present study was to assess the heritability of BMI and somatotype (endomorphy, mesomorphy, and ectomorphy) in a group of female monozygotic and dizygotic twins from childhood to early adulthood. A total of 28 females aged from 7 to 19 years old were studied. The group included 5 monozygotic and 9 dizygotic pairs of twins. The heritability was assessed by the twin method (h(2)). The anthropometric measures and somatotype were assessed using standard validated procedures. Significant differences between monozygotic and dizygotic pairs of twins were found for height, endomorphy, ectomorphy, and mesomorphy, and the heritability for these measures was high (h(2) between 0.88 and 0.97). No significant differences were found between monozygotic and dizygotic twins for weight, and the BMI and the heritability indexes were lower for these measures (respectively 0.42 and 0.52). The results of the present study have indicated that the somatotype may be more sensible to genetic influences than the BMI in females. PMID:17283387

  16. Twin-to-twin transfusion syndrome

    MedlinePlus

    Twin-to-twin transfusion syndrome is a rare condition that occurs only in identical twins while they are in the womb. ... Twin-to-twin transfusion syndrome (TTTS) occurs when the blood supply of 1 twin moves to the ...

  17. Twin methodology in epigenetic studies.

    PubMed

    Tan, Qihua; Christiansen, Lene; von Bornemann Hjelmborg, Jacob; Christensen, Kaare

    2015-01-01

    Since the final decades of the last century, twin studies have made a remarkable contribution to the genetics of human complex traits and diseases. With the recent rapid development in modern biotechnology of high-throughput genetic and genomic analyses, twin modelling is expanding from analysis of diseases to molecular phenotypes in functional genomics especially in epigenetics, a thriving field of research that concerns the environmental regulation of gene expression through DNA methylation, histone modification, microRNA and long non-coding RNA expression, etc. The application of the twin method to molecular phenotypes offers new opportunities to study the genetic (nature) and environmental (nurture) contributions to epigenetic regulation of gene activity during developmental, ageing and disease processes. Besides the classical twin model, the case co-twin design using identical twins discordant for a trait or disease is becoming a popular and powerful design for epigenome-wide association study in linking environmental exposure to differential epigenetic regulation and to disease status while controlling for individual genetic make-up. It can be expected that novel uses of twin methods in epigenetic studies are going to help with efficiently unravelling the genetic and environmental basis of epigenomics in human complex diseases. PMID:25568460

  18. Use of a twin dataset to identify AMD-related visual patterns controlled by genetic factors

    NASA Astrophysics Data System (ADS)

    Quellec, Gwénolé; Abràmoff, Michael D.; Russell, Stephen R.

    2010-03-01

    The mapping of genotype to the phenotype of age-related macular degeneration (AMD) is expected to improve the diagnosis and treatment of the disease in a near future. In this study, we focused on the first step to discover this mapping: we identified visual patterns related to AMD which seem to be controlled by genetic factors, without explicitly relating them to the genes. For this purpose, we used a dataset of eye fundus photographs from 74 twin pairs, either monozygotic twins, who have the same genotype, or dizygotic twins, whose genes responsible for AMD are less likely to be identical. If we are able to differentiate monozygotic twins from dizygotic twins, based on a given visual pattern, then this pattern is likely to be controlled by genetic factors. The main visible consequence of AMD is the apparition of drusen between the retinal pigment epithelium and Bruch's membrane. We developed two automated drusen detectors based on the wavelet transform: a shape-based detector for hard drusen, and a texture- and color- based detector for soft drusen. Forty visual features were evaluated at the location of the automatically detected drusen. These features characterize the texture, the shape, the color, the spatial distribution, or the amount of drusen. A distance measure between twin pairs was defined for each visual feature; a smaller distance should be measured between monozygotic twins for visual features controlled by genetic factors. The predictions of several visual features (75.7% accuracy) are comparable or better than the predictions of human experts.

  19. The East Flanders Prospective Twin Survey (EFPTS).

    PubMed

    Derom, Catherine A; Vlietinck, Robert F; Thiery, Evert W; Leroy, Fernand O G; Fryns, Jean-Pierre; Derom, Robert M

    2006-12-01

    The East Flanders Prospective Twin Survey (EFPTS) is a prospective, population-based registry of multiple births in the province of East Flanders, Belgium. EFPTS has several unique features: it is population based and prospective, with the possibility of long-term follow-up; the twins (and higher order multiple births) are ascertained at birth; basic perinatal data recorded; chorion type and zygosity established; and since 1969 placental biopsies have been taken and frozen at -20 degrees C for later determination of genetic markers. The EFPTS is the only large register that includes placental data and allows differentiation of 3 subtypes of monozygotic (MZ) twins based on the time of the initial zygotic division: the dichorionic-diamnionic pairs (early, before the 4th day after fertilization), the monochorionic-diamnionic pairs (intermediate, between the 4th and the 7th day post fertilization), and the monochorionic-monoamnionic pairs (late, after the 8-day post fertilization). This added a new dimension to didymology (the science of twins; didymos is the Greek word for twin): the timing of MZ twinning. Studies can be initiated taking into account primary biases, those originating in utero. Such studies could throw new light on the controversy over the validity of the classic twin method, the consequences of early embryological events (before and just after implantation of the embryo), the origin of congenital malformations, the sex proportion of multiples, the gene-environment interactions as far as intrauterine environment is concerned, to name but a few. PMID:17254399

  20. Longitudinal Twin Study of Early Literacy Development: Preschool and Kindergarten Phases

    ERIC Educational Resources Information Center

    Byrne, Brian; Wadsworth, Sally; Corley, Robin; Samuelsson, Stefan; Quain, Peter; DeFries, John C.; Willcutt, Erik; Olson, Richard K.

    2005-01-01

    We conducted behavior?genetic analyses of kindergarten reading, spelling, phonological awareness, rapid naming, and spoken sentence processing in 172 pairs of monozygotic and 153 pairs of same-sex dizygotic twin kindergarten children sampled in the United States and Australia. We also modeled progress from preschool to kindergarten in…

  1. Do Environmental Similarities Explain the Similarity in Intelligence of Identical Twins Reared Apart?

    ERIC Educational Resources Information Center

    Bouchard, Thomas J., Jr.

    1983-01-01

    Taylor (1980) claims to show that the similarity in IQ between monozygotic twins reared apart found in prior studies is due to similarity in their environments. A reanalysis using Taylor's classification of environments but an alternative IQ measure shows that his findings do not constructively replicate. (Author/RD)

  2. Sources of Human Psychological Differences: The Minnesota Study of Twins Reared Apart.

    ERIC Educational Resources Information Center

    Bouchard, Thomas J., Jr.; And Others

    1990-01-01

    Described is an ongoing study of monozygotic and dizygotic twins, separated in infancy and reared apart. Discussed are the procedures and results of this study with interpretations of the results. The effects of parenting, education, and other interventions are considered. (CW)

  3. Genetic Variance in Nonverbal Intelligence: Data from the Kinships of Identical Twins.

    ERIC Educational Resources Information Center

    Rose, Richard J.; And Others

    1979-01-01

    Data are presented from families of monozygotic twin pairs which give evidence of genetic variance on the Block Design Test, a nonverbal measure of intelligence. Analyses of genetic and environmental effects on behavior are possible with this kind of information. (SA)

  4. The Effect of Classroom Environment on Problem Behaviors: A Twin Study

    ERIC Educational Resources Information Center

    DiLalla, Lisabeth Fisher; Mullineaux, Paula Y.

    2008-01-01

    Children's behavior problems, both internalizing and externalizing, are a function of both genetic and environmental influences. One potentially important environmental influence is the classroom environment. This study of 1941 monozygotic twin pairs examined whether children whose parents rated them as similarly high or low on a number of problem…

  5. Conjoined twins in Hungary, 1970-1986.

    PubMed

    Métneki, J; Czeizel, A

    1989-01-01

    The total prevalence of conjoined twins (birth + prenatally diagnosed) was 1:68,000 in the study of 1970-1986. Symmetrical cases (the so-called siamese twins) have an obvious predominance (92.3%). Associated major malformations occurred in 80% of conjoined twins and more than 1/5 were discordant. The surviving time of liveborn conjoined twin sets was not more than two days except in two surgically successfully separated pairs. The family study did not indicate a higher recurrence risk. The case group was compared to two control groups and it appeared that the periconceptional use of oral contraception and ovulation induction were mentioned more frequently in pregnancies resulting in conjoined twins. PMID:2631499

  6. Mirror-image trigger thumb in dichorionic identical twins.

    PubMed

    Wang, Eric D; Xu, Xiaoti; Dagum, Alexander B

    2012-06-01

    The congenital vs acquired etiology of pediatric trigger thumb is the subject of considerable debate. Existing case reports of bilateral presentation in identical twins and first-degree familial association support the congenital hypothesis. However, prospective studies have yet to report a neonate presenting with this anomaly at birth. This article describes the first known set of dichorionic, monozygotic identical twins with unilateral trigger thumbs, affecting contralateral (mirror-image) hands and with asynchronous age at presentation (11 months and 18 months, respectively).Pediatric trigger thumb is caused by a mismatch between the flexor pollicis longus tendon and its A1 synovial pulley. Four sets of twins have been previously reported in the literature with trigger thumb. Of these, 3 sets were monozygotic twins who had bilaterally affected thumbs. Together with the absence of trauma, a congenital etiology was suggested. The fact that pediatric trigger thumb is generally seen several months after birth was felt to be due to infants holding their thumbs clutched in their palms until 6 months. However, no confirmed cases of trigger thumb have been diagnosed at birth in several large prospective studies of newborns.In the current case, the asynchronous presentation of unilateral trigger thumbs in identical twins does not support a solely congenital cause. Furthermore, the mirror-image presentation contradicts current embryological understanding of the temporal course of twinning and the determination of laterality. Thus, a multifactorial etiology is supported with both a genetic and acquired component affecting the development of this condition. PMID:22691680

  7. [Adult twins].

    PubMed

    Charlemaine, Christiane

    2006-12-31

    This paper explores the deep roots of closeness that twins share in their youngest age and their effect on their destiny at the adult age. Psychologists believe the bond between twins begins in utero and develops throughout the twins' lives. The four patterns of twinship described show that the twin bond is determined by the quality of parenting that twins receive in their infancy and early childhood. Common problems of adult twins bring about difficulties to adapt in a non-twin world. The nature versus nurture controversy has taken on new life focusing on inter-twin differences and the importance of parent-child interaction as fundamental to the growth and development of personality. PMID:17352324

  8. Twin concordance and sibling recurrence rates in multiple sclerosis

    PubMed Central

    Willer, C. J.; Dyment, D. A.; Risch, N. J.; Sadovnick, A. D.; Ebers, G. C.

    2003-01-01

    Size and ascertainment constraints often limit twin studies to concordance comparisons between identical and fraternal twins. Here we report the final results of a longitudinal, population-based study of twins with multiple sclerosis (MS) in Canada. Bias was demonstrably minimized, and an estimated 75% of all Canadian MS twin pairs were ascertained, giving a sample sufficiently large (n = 370) to permit additional informative comparisons. Twinning was not found to affect prevalence, and twins with MS did not differ from nontwins for DR15 allele frequency nor for MS risk to their siblings. Probandwise concordance rates of 25.3% (SE ± 4.4) for monozygotic (MZ), 5.4% (±2.8) for dizygotic (DZ), and 2.9% (±0.6) for their nontwin siblings were found. MZ twin concordance was in excess of DZ twin concordance. The excess concordance in MZ was derived primarily from like-sexed female pairs with a probandwise concordance rate of 34 of 100 (34 ± 5.7%) compared with 3 of 79 (3.8 ± 2.8%) for female DZ pairs. We did not demonstrate an MZ/DZ difference in males, although the sample size was small. We observed a 2-fold increase in risk to DZ twins over nontwin siblings of twins, but the difference was not significant. PMID:14569025

  9. A twin study of computer anxiety in Turkish adolescents.

    PubMed

    Deryakulu, Deniz; Calışkan, Erkan

    2012-04-01

    The present study investigated computer anxiety within a sample of Turkish twins aged 10-18. A total of 185 twin-pairs participated in the study. Of the twins, 64 pairs (34.6 percent) were monozygotic (MZ) and 121 pairs (65.4 percent) were dizygotic (DZ). Of the 121 DZ twins, 54 pairs (44.63 percent) were same-sex twins and 67 pairs (55.37 percent) were opposite-sex twins. Computer anxiety was assessed using Computer Anxiety Rating Scale-Turkish Version (CARS-TV), one of the three main scales of "Measuring Technophobia Instruments" developed by Rosen and Weil. The results of paired t test comparisons showed no significant differences in MZ and same-sex DZ twin-pairs' levels of computer anxiety. On the other hand, a significant difference was found in opposite-sex DZ twin-pairs' level of computer anxiety. Interesting enough, males appeared to be more computer anxious than their female co-twins. In the present study, using Falconer's formula, heritability estimate for computer anxiety was derived from correlations based on MZ and DZ twins' mean scores on CARS-TV. The results showed that 57 percent of the variance in computer anxiety was from genetics and 41.5 percent was from nonshared environmental factors. Shared environmental influence, on the other hand, was very small and negligible. Interpretations of results and potential directions for future research are presented. PMID:22394420

  10. Imperfect twinning: a clinical and ethical dilemma

    PubMed Central

    Denardin, Daniela; Telles, Jorge Alberto B.; Betat, Rosilene da Silveira; Fell, Paulo Renato K.; da Cunha, André Campos; Targa, Luciano Vieira; Zen, Paulo Ricardo G.; Rosa, Rafael Fabiano M.

    2013-01-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. DATA SYNTHESIS: The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family. PMID:24142323

  11. Genetic and environmental contributions to pro-social attitudes: a twin study of social responsibility.

    PubMed Central

    Rushton, J. Philippe

    2004-01-01

    Although 51 twin and adoption studies have been performed on the genetic architecture of antisocial behaviour, only four previous studies have examined a genetic contribution to pro-social behaviour. Earlier work by the author with the University of London Institute of Psychiatry Adult Twin Register found that genes contributed approximately half of the variance to measures of self-report altruism, empathy, nurturance and aggression, including acts of violence. The present study extends those results by using a 22-item Social Responsibility Questionnaire with 174 pairs of monozygotic twins and 148 pairs of dizygotic twins. Forty-two per cent of the reliable variance was due to the twins' genes, 23% to the twins' common environment and the remainder to the twins' non-shared environment. PMID:15615684

  12. Quantum discord, local operations, and Maxwell's demons

    SciTech Connect

    Brodutch, Aharon; Terno, Daniel R.

    2010-06-15

    Quantum discord was proposed as a measure of the quantumness of correlations. There are at least three different discordlike quantities, two of which determine the difference between the efficiencies of a Szilard's engine under different sets of restrictions. The three discord measures vanish simultaneously. We introduce an easy way to test for zero discord, relate it to the Cerf-Adami conditional entropy and show that there is no simple relation between the discord and the local distinguishability.

  13. Contribution of Heritability and Epigenetic Factors to Skeletal Muscle Mass Variation in United Kingdom Twins

    PubMed Central

    Livshits, Gregory; Gao, Fei; Malkin, Ida; Needhamsen, Maria; Xia, Yudong; Yuan, Wei; Bell, Christopher G.; Ward, Kirsten; Liu, Yuan; Wang, Jun

    2016-01-01

    Context: Skeletal muscle mass (SMM) is one of the major components of human body composition, with deviations from normal values often leading to sarcopenia. Objective: Our major aim was to conduct a genome-wide DNA methylation study in an attempt to identify potential genomic regions associated with SMM. Design: This was a mixed cross-sectional and longitudinal study. Setting: Community-based study. Participants: A total of 1550 middle-aged United Kingdom twins (monozygotic [MZ] and dizygotic [DZ]), 297 of which were repeatedly measured participated in the study. Main Outcome Measure: Appendicular lean mass assessed using dual-energy X-ray absorptiometry technology, and methylated DNA immunoprecipitation sequencing DNA methylation profiling genome-wide were obtained from each individual. Results: Heritability estimate of SMM, with simultaneous adjustment for covariates obtained using variance decomposition analysis, was h2 = 0.809 ± 0.050. After quality control and analysis of longitudinal stability, the DNA methylation data comprised of 723 029 genomic sites, with positive correlations between repeated measurements (Rrepeated = 0.114–0.905). Correlations between MZ and DZ twins were 0.51 and 0.38 at a genome-wide average, respectively, and clearly increased with Rrepeated. Testing for DNA methylation association with SMM in 50 discordant MZ twins revealed 36 081 nominally significant results, of which the top-ranked 134 signals (P < .01 and Rrepeated > 0.40) were subjected to replication in the sample of 1196 individuals. Seven SMM methylation association signals replicated at a false discovery rate less than 0.1, and these were located in or near genes DNAH12, CAND1, CYP4F29P, and ZFP64, which have previously been highlighted in muscle-related studies. Adjusting for age, smoking, and blood cell heterogeneity did not alter significance of these associations. Conclusion: This epigenome-wide study, testing longitudinally stable methylation sites, discovered and

  14. Matching osteochondritis dissecans lesions in identical twin brothers.

    PubMed

    Richie, Lucas B; Sytsma, Mark J

    2013-09-01

    Osteochondritis dissecans is a disorder of unknown etiology that can result in fragmentation of osteochondral surfaces, most commonly of the knee, shoulder, elbow, and ankle. This may lead to sequelae of pain and an inability to participate in desired activities. Multiple theories exist as to the true cause of the disorder, but none have been fully proven. One such proposed etiology is genetic causation. Familial cases of osteochondritis dissecans are rare, yet these cases offer support to growing evidence that may support a genetic link. This article describes osteochondritis dissecans lesions of the femoral trochlea in monozygotic (identical) twins. Both twins presented with similar symptoms 1 year apart. Neither twin had any clear inciting trauma. Magnetic resonance imaging revealed osteochondral lesions in similar positions of the lateral trochlear of the same knee in both brothers. Osteochondral autograft transfer and tibial tubercle anteromedialization were performed on both patients. An identical postoperative protocol was followed, and recovery with full return to sport was comparable for the brothers. To the authors' knowledge, only 1 other case report exists of osteochondritis dissecans lesions in monozygotic twins. Although debate continues regarding the true etiology of this disorder, cases of identical twins presenting with a similar disease process are highly suggestive of a genetic component and may lead to early identification and treatment of these lesions. Continued research in the area of osteochondritis dissecans and its genetic basis is needed to completely understand this disorder. PMID:24025016

  15. Why Accurate Knowledge of Zygosity is Important to Twins.

    PubMed

    Cutler, Tessa L; Murphy, Kate; Hopper, John L; Keogh, Louise A; Dai, Yun; Craig, Jeffrey M

    2015-06-01

    All same-sex dizygotic (DZ) twins and approximately one-third of monozygotic (MZ) twin pairs have separate placentas, making it impossible to use the number of placentas to determine zygosity. Zygosity determination is further complicated because incorrect assumptions are often made, such as that only DZ pairs have two placentas and that all MZ pairs are phenotypically identical. These assumptions, by twins, their families and health professionals, along with the lack of universal zygosity testing for same-sex twins, has led to confusion within the twin community, yet little research has been conducted with twins about their understanding and assumptions about zygosity. We aimed to explore and quantify understanding and assumptions about zygosity using twins attending an Australian twin festival. We recruited 91 twin pairs younger than 18 years of age and their parents, and 30 adult twin pairs who were all uncertain of their zygosity, to complete one pen and paper questionnaire and one online questionnaire about their assumed zygosity, reasons for their assumptions and the importance of accurate zygosity knowledge. Responses were compared with their true zygosity measured using a genetic test. We found a substantial proportion of parents and twins had been misinformed by their own parents or medical professionals, and that knowledge of their true zygosity status provided peace of mind and positive emotional responses. For these reasons we propose universal zygosity testing of same-sex twins as early in life as possible and an increase in education of medical professionals, twins and families of twins about zygosity issues. PMID:25851727

  16. How Do Friends Influence Smoking Uptake? Findings from Qualitative Interviews with Identical Twins

    ERIC Educational Resources Information Center

    McLeod, Kim; White, Victoria; Mullins, Robyn; Davey, Claire; Wakefield, Melanie; Hill, David

    2008-01-01

    The smoking behavior of friends is a major risk factor for adolescent smoking uptake. To explore the social context of smoking experimentation and consolidation with a particular focus on friends, the authors interviewed both members of 14 young adult identical twin pairs who were discordant for smoking. The different smoking status of twins was…

  17. Attentional Regulation in Young Twins with Probable Stuttering, High Nonfluency, and Typical Fluency

    ERIC Educational Resources Information Center

    Felsenfeld, Susan; van Beljsterveldt, Catharina Eugenie Maria; Boomsma, Dorret Irene

    2010-01-01

    Purpose: Using a sample of 20,445 Dutch twins, this study examined the relationship between speech fluency and attentional regulation in children. A secondary objective was to identify etiological overlap between nonfluency and poor attention using fluency-discordant twin pairs. Method: Three fluency groups were created at age 5 using a parent…

  18. Non-Markovian dynamics of quantum discord

    SciTech Connect

    Fanchini, F. F.; Caldeira, A. O.; Werlang, T.; Brasil, C. A.; Arruda, L. G. E.

    2010-05-15

    We evaluate the quantum discord dynamics of two qubits in independent and common non-Markovian environments. We compare the dynamics of entanglement with that of quantum discord. For independent reservoirs the quantum discord vanishes only at discrete instants whereas the entanglement can disappear during a finite time interval. For a common reservoir, quantum discord and entanglement can behave very differently with sudden birth of the former but not of the latter. Furthermore, in this case the quantum discord dynamics presents sudden changes in the derivative of its time evolution which is evidenced by the presence of kinks in its behavior at discrete instants of time.

  19. Genetic and environmental influences on eating behavior - a study of twin pairs reared apart or reared together

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This study examined the relative influence of genetic versus environmental factors on specific aspects of eating behavior. Adult monozygotic twins (22 pairs and 3 singleton reared apart, 38 pairs and 9 singleton reared together, age 18-76 years, BMI 17-43 kg/m2) completed the Three Factor Eating Que...

  20. The Twin Research Registry at SRI International.

    PubMed

    Krasnow, Ruth E; Jack, Lisa M; Lessov-Schlaggar, Christina N; Bergen, Andrew W; Swan, Gary E

    2013-02-01

    The Twin Research Registry (TRR) at SRI International is a community-based registry of twins established in 1995 by advertising in local media, mainly on radio stations and in newspapers. As of August 2012, there are 3,120 same- and opposite-sex twins enrolled; 86% are 18 years of age or older (mean age 44.9 years, SD 16.9 years) and 14% less than 18 years of age (mean age 8.9 years, SD 4.5); 67% are female, and 62% are self-reported monozygotic (MZ). More than 1,375 twins have participated in studies over the last 15 years in collaboration with the University of California Medical Center in San Francisco, the University of Texas MD Anderson Cancer Center, and the Stanford University School of Medicine. Each twin completes a registration form with basic demographic information either online at the TRR Web site or during a telephone interview. Contact is maintained with members by means of annual newsletters and birthday cards. The managers of the TRR protect the confidentiality of twin data with established policies; no information is given to other researchers without prior permission from the twins; and all methods and procedures are reviewed by an Institutional Review Board. Phenotypes studied thus far include those related to nicotine metabolism, mutagen sensitivity, pain response before and after administration of an opioid, and a variety of immunological responses to environmental exposures, including second-hand smoke and vaccination for seasonal influenza virus and Varicella zoster virus. Twins in the TRR have participated in studies of complex, clinically relevant phenotypes that would not be feasible to measure in larger samples. PMID:23084148

  1. Reflectance spectrometry of placental vessels in cases of twin-twin transfusion syndrome: experiments and modeling

    NASA Astrophysics Data System (ADS)

    Lines, Collin; Kim, Oleg; McMurdy, John; Luks, Francois; Alber, Mark; Crawford, Greg

    2013-03-01

    A stochastic photon transport model in multilayer skin tissue combined with reflectance spectroscopy measurements is used to study placental vessels in cases of twin-twin transfusion syndrome (TTTS). TTTS occurs in about 12% of monozygotic (identical) twin pregnancies wherein flow within placental vessels linking the twins together becomes unbalanced, leading to dual mortality. Endoscopic laser ablation can halt the syndrome by occluding the anastomoses connecting the two fetuses. The objective of this study is to develop a technique to determine hemoglobin (Hb) content through spectral analysis of diffuse reflectance spectra of placental vessels to aid in identification of the anastomoses. Previous work by researchers at Brown University has shown that the reflectance spectra of the donor twin and recipient twin are considerably different in the wavelengths for Hb absorbance. This presentation will give preliminary results for a Monte Carlo model adapted to fit the physiology of the placenta that can be used to quantitative determine the Hb levels. The reflectance spectra of the vessels are simulated for different values of Hb as well oxygenation and water concentration with the vessel and placental mass. The preliminary results will be shown to be in good approximation with the prior experimental data. The combination of modeling with spectroscopic measurement will provide a new tool for detailed prenatal study.

  2. Mesial temporal lobe epilepsy with hippocampal sclerosis in two pairs of identical twins.

    PubMed

    Karatas, H; Dericioglu, N; Saygi, S

    2012-01-01

    The most common pathology in adult patients with temporal lobe epilepsy is hippocampal sclerosis (HS), the etiology of which is not clear. There is a conflicting evidence in literature regarding whether HS is genetic or acquired. Twin studies can help to clarify the mechanisms of HS, but limited numbers of twins have been studied. We describe two monozygotic pairs, in whom the affected twin had mesial temporal lobe epilepsy and HS. The unaffected twin remained seizure free on long-term follow-up. HS was confirmed pathologically in one of the affected twins. Our data and other limited twin studies indicate that HS occurs as a consequence of prolonged repeated seizures or other events during childhood. In other words, some acquired factors may be more important than genetic ones in the etiology of HS (Fig. 2, Ref. 16). PMID:22794520

  3. DNA methylation studies using twins: what are they telling us?

    PubMed

    Bell, Jordana T; Spector, Tim D

    2012-01-01

    Recent studies have identified both heritable DNA methylation effects and differential methylation in disease-discordant identical twins. Larger sample sizes, replication, genetic-epigenetic analyses and longitudinal assays are now needed to establish the role of epigenetic variants in disease. PMID:23078798

  4. Observing the operational significance of discord consumption

    NASA Astrophysics Data System (ADS)

    Gu, Mile; Chrzanowski, Helen M.; Assad, Syed M.; Symul, Thomas; Modi, Kavan; Ralph, Timothy C.; Vedral, Vlatko; Lam, Ping Koy

    2012-09-01

    Coherent interactions that generate negligible entanglement can still exhibit unique quantum behaviour. This observation has motivated a search beyond entanglement for a complete description of all quantum correlations. Quantum discord is a promising candidate. Here, we demonstrate that under certain measurement constraints, discord between bipartite systems can be consumed to encode information that can only be accessed by coherent quantum interactions. The inability to access this information by any other means allows us to use discord to directly quantify this `quantum advantage'. We experimentally encode information within the discordant correlations of two separable Gaussian states. The amount of extra information recovered by coherent interaction is quantified and directly linked with the discord consumed during encoding. No entanglement exists at any point of this experiment. Thus we introduce and demonstrate an operational method to use discord as a physical resource.

  5. Non-commutativity measure of quantum discord.

    PubMed

    Guo, Yu

    2016-01-01

    Quantum discord is a manifestation of quantum correlations due to non-commutativity rather than entanglement. Two measures of quantum discord by the amount of non-commutativity via the trace norm and the Hilbert-Schmidt norm respectively are proposed in this paper. These two measures can be calculated easily for any state with arbitrary dimension. It is shown by several examples that these measures can reflect the amount of the original quantum discord. PMID:27122226

  6. Non-commutativity measure of quantum discord

    PubMed Central

    Guo, Yu

    2016-01-01

    Quantum discord is a manifestation of quantum correlations due to non-commutativity rather than entanglement. Two measures of quantum discord by the amount of non-commutativity via the trace norm and the Hilbert-Schmidt norm respectively are proposed in this paper. These two measures can be calculated easily for any state with arbitrary dimension. It is shown by several examples that these measures can reflect the amount of the original quantum discord. PMID:27122226

  7. Geometric quantum discord under noisy environment

    NASA Astrophysics Data System (ADS)

    Huang, Zhiming; Qiu, Daowen

    2016-05-01

    In this work, we mainly analyze the dynamics of geometric quantum discord under a common dissipating environment. Our results indicate that geometric quantum discord is generated when the initial state is a product state. The geometric quantum discord increases from zero to a stable value with the increasing time, and the variations of stable values depend on the system size. For different initial product states, geometric quantum discord has some different behaviors in contrast with entanglement. For initial maximally entangled state, it is shown that geometric quantum discord decays with the increasing dissipated time. It is found that for EPR state, entanglement is more robust than geometric quantum discord, which is a sharp contrast to the existing result that quantum discord is more robust than entanglement in noisy environments. However, for GHZ state and W state, geometric quantum discord is more stable than entanglement. By the comparison of quantum discord and entanglement, we find that a common dissipating environment brings complicated effects on quantum correlation, which may deepen our understanding of physical impacts of decohering environment on quantum correlation. In the end, we analyze the effects of collective dephasing noise and rotating noise to a class of two-qubit X states, and we find that quantum correlation is not altered by the collective noises.

  8. Face processing among twins with and without autism: social correlates and twin concordance.

    PubMed

    Neuhaus, Emily; Kresse, Anna; Faja, Susan; Bernier, Raphael A; Webb, Sara Jane

    2016-01-01

    Autism spectrum disorder (ASD) has a strong heritable basis, as evidenced by twin concordance rates. Within ASD, symptom domains may arise via independent genetic contributions, with varying heritabilities and genetic mechanisms. In this article, we explore social functioning in the form of (i) electrophysiological and behavioral measures of face processing (P1 and N170) and (ii) social behavior among child and adolescent twins with (N = 52) and without ASD (N = 66). Twins without ASD had better holistic face processing and face memory, faster P1 responses and greater sensitivity to the effects of facial inversion on P1. In contrast, N170 responses to faces were similar across diagnosis, with more negative amplitudes for faces vs non-face images. Across the sample, stronger social skills and fewer social difficulties were associated with faster P1 and N170 responses to upright faces, and better face memory. Twins were highly correlated within pairs across most measures, but correlations were significantly stronger for monozygotic vs dizygotic pairs on N170 latency and social problems. We suggest common developmental influences across twins for face processing and social behavior, but highlight (i) neural speed of face processing and (ii) social difficulties as important avenues in the search for genetic underpinnings in ASD. PMID:26137974

  9. Further possible physiological connectedness between identical twins: the London study.

    PubMed

    Parker, Adrian; Jensen, Christian

    2013-01-01

    Four pairs of monozygotic twins were tested for synchronous responses that occurred in the physiological data of one twin during the period when the other twin was exposed to shock and surprise stimuli. Each of the five stimuli was presented in random order, producing five blocks of trial periods within each 25-minute session per twin. There were eight possible trial periods within each block. The choice of the trial periods, that is, the exact time placement of the shock stimuli within the blocks, was determined randomly. Data from six sessions with the four pairs of twins were used by the same polygraph expert who was successful in a previous study in identifying these trial periods. In accordance with the previously determined protocol for the experiment, six of these trials were passed on, leaving 24 trial blocks for which assessments were made as to which period the stimulus had occurred. Six of these gave hits, whereas three hits were expected by chance and four of these six correct placements were made by one of the pairs of twins. The data provide further justification for a major study in this area using the outlined methodology with selected pairs of twins. PMID:23294817

  10. Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation.

    PubMed

    Lasa, A; Ramón y Cajal, T; Llort, G; Suela, J; Cigudosa, J C; Cornet, M; Alonso, C; Barnadas, A; Baiget, M

    2010-10-01

    Mutations in BRCA1 and BRCA2 genes confer a high risk of breast and ovarian cancer but the incomplete penetrance of these mutations suggests that other genetic and/or environmental factors may modify this risk. We present a family where all affected members carried a mutation in the BRCA1 gene and the index case had suffered from cancer twice in the last 27 years, whereas her monozygotic twin sister, also a carrier of the mutation, remained healthy. As copy number variants (CNVs) contribute to phenotypic diversity, a comparative genomic hybridization array (CGH) was performed to see whether the differences in the CNV profile were a modifier factor of the phenotype in our monozygotic twins. Our results show that differences in the CNVs profile were not the cause of the extremely variable penetrance observed in our MZ twin. The search for an explanation should not therefore be limited to genetic changes at the level of the DNA sequence. PMID:20369283

  11. NOTE: Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion

    NASA Astrophysics Data System (ADS)

    van Gemert, Martin J. C.; van den Wijngaard, Jeroen P. H. M.; Lopriore, Enrico; Pasman, Suzanne A.; Vandenbussche, Frank P. H. A.

    2008-04-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twin fetuses sharing one single (monochorionic) placenta. TTTS is caused by a net inter-twin transfusion of blood through placental anastomoses, from one twin (the donor) to the other (the recipient), which link the two feto-placental circulations. Currently, the only reliable method to measure the net inter-twin transfusion clinically is when incomplete laser therapy of TTTS occurs and one of the twins becomes anemic and requires an intra-uterine transfusion of adult red blood cells. Then, differences between adult hemoglobin concentrations measured during the transfusion and at birth relate not only to the net inter-twin transfusion but also to the finite lifetime of the adult red blood cells. We have analyzed this situation, derived the differential equations of adult hemoglobin in the donor and recipient twins, given the solutions and given expressions relating the net inter-twin flow with clinically measured parameters. We have included single and multiple intra-uterine transfusions. In conclusion, because incomplete laser therapy occurs frequently, and some cases require an intra-uterine transfusion, this method may allow collecting a wealth of net inter-twin flow data from clinicians involved in laser therapy of TTTS. To aid to the widespread use of this method, we have presented the equations as clearly as possible in tables for easy use by others.

  12. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

    PubMed Central

    Boyle, B; Morris, JK; McConkey, R; Garne, E; Loane, M; Addor, MC; Gatt, M; Haeusler, M; Latos-Bielenska, A; Lelong, N; McDonnell, R; Mullaney, C; O’Mahony, M; Dolk, H

    2014-01-01

    Objective To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. Design Population-based prevalence study based on EUROCAT congenital anomaly registries. Setting Eight European countries. Population 14.8 million births 1990–2009; 2.89% multiple births. Methods DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases. Main outcome measures Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome. Statistical analysis Poisson and logistic regression stratified for maternal age, country and time. Results Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]). Conclusions The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening. PMID:24495335

  13. Genetic and Environmental Influences on Two Measures of Speed of Information Processing and Their Relation to Psychometric Intelligence: Evidence from the German Observational Study of Adult Twins.

    ERIC Educational Resources Information Center

    Neubauer, Alioscha C.; Spinath, Frank M.; Riemann, Rainer; Angleitner, Alois; Borkenau, Peter

    2000-01-01

    Administered 2 elementary cognitive task (ECT) tests and 2 psychometric intelligence tests to 169 monozygotic and 131 dizygotic pairs of twins in Germany. Reaction times correlated negatively with psychometric intelligence, and habitability estimates were substantial for both psychometric intelligence and reaction times on the ECTs. Multivariate…

  14. Development Genetic Analysis of General Cognitive Ability from 1 to 12 Years in a Sample of Adoptees, Biological Siblings, and Twins.

    ERIC Educational Resources Information Center

    Bishop, E. G.; Cherny, Stacey S.; Corley, Robin; Plomin, Robert; DeFries, John C.; Hewitt, John K.

    2003-01-01

    Studied continuity and change in general cognitive ability from infancy to adolescence in adoptees (107 children), biological siblings (87 pairs), and twins (224 monozygotic and 189 dyzygotic pairs). Findings generally support previous findings about genetic and environmental factors, with the exception that in the transition to adolescence,…

  15. Genetic determinants of bone mass in adults. A twin study.

    PubMed Central

    Pocock, N A; Eisman, J A; Hopper, J L; Yeates, M G; Sambrook, P N; Eberl, S

    1987-01-01

    The relative importance of genetic factors in determining bone mass in different parts of the skeleton is poorly understood. Lumbar spine and proximal femur bone mineral density and forearm bone mineral content were measured by photon absorptiometry in 38 monozygotic and 27 dizygotic twin pairs. Bone mineral density was significantly more highly correlated in monozygotic than in dizygotic twins for the spine and proximal femur and in the forearm of premenopausal twin pairs, which is consistent with significant genetic contributions to bone mass at all these sites. The lesser genetic contribution to proximal femur and distal forearm bone mass compared with the spine suggests that environmental factors are of greater importance in the aetiology of osteopenia of the hip and wrist. This is the first demonstration of a genetic contribution to bone mass of the spine and proximal femur in adults and confirms similar findings of the forearm. Furthermore, bivariate analysis suggested that a single gene or set of genes determines bone mass at all sites. PMID:3624485

  16. Intravenous iron administration together with parenteral nutrition to very preterm Jehovah's Witness twins

    PubMed Central

    Poorisrisak, Porntiva; Schroeder, Allan Mikael; Greisen, Gorm; Zachariassen, Gitte

    2014-01-01

    Preterm twin sisters (monozygotic) were born at gestational age 27 weeks and 5 days with birth weights of 935 and 735 g. They were admitted to our neonatal intensive care unit for a period of 1 month. Their parents were Jehovah’s Witnesses and refused blood transfusion for their preterm daughters. Subcutaneous erythropoietin and intravenous iron were given as a prophylactic to avoid anaemia. PMID:24891477

  17. Associations Between Sibling Relationship Quality and Friendship Quality in Early Adolescence: Looking at the Case of Twins.

    PubMed

    Bekkhus, Mona; Brendgen, Mara; Czajkowski, Nikolai O; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2016-04-01

    Bidirectional pathways between twin relationship quality and friendship quality were investigated in a large longitudinal twin cohort. We examined negative and positive relationship features in 313 monozygotic (MZ) twins and 238 same-sex dizygotic (DZ) twins from ages 13 to 14 years, using latent structural modeling. Results showed stronger stability of the twin relationship quality compared to friendship quality. Positive features in the sibling relationship were associated with increased positive features in the relationship with the best friend a year later. In contrast, no significant association between negative sibling relationship features and change in negative friendship quality features was found. These findings speak to the important role of the sibling relationship in the development of good quality friendship relations in twins. PMID:26952576

  18. Twin's Birth-Order Differences in Height and Body Mass Index From Birth to Old Age: A Pooled Study of 26 Twin Cohorts Participating in the CODATwins Project.

    PubMed

    Yokoyama, Yoshie; Jelenkovic, Aline; Sund, Reijo; Sung, Joohon; Hopper, John L; Ooki, Syuichi; Heikkilä, Kauko; Aaltonen, Sari; Tarnoki, Adam D; Tarnoki, David L; Willemsen, Gonneke; Bartels, Meike; van Beijsterveldt, Toos C E M; Saudino, Kimberly J; Cutler, Tessa L; Nelson, Tracy L; Whitfield, Keith E; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; He, Mingguang; Ding, Xiaohu; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Jeong, Hoe-Uk; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Burt, S Alexandra; Klump, Kelly L; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas Sevenius; Craig, Jeffrey M; Saffery, Richard; Ji, Fuling; Ning, Feng; Pang, Zengchang; Dubois, Lise; Boivin, Michel; Brendgen, Mara; Dionne, Ginette; Vitaro, Frank; Martin, Nicholas G; Medland, Sarah E; Montgomery, Grant W; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Tynelius, Per; Haworth, Claire M A; Plomin, Robert; Rebato, Esther; Rose, Richard J; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Sørensen, Thorkild I A; Boomsma, Dorret I; Kaprio, Jaakko; Silventoinen, Karri

    2016-04-01

    We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant. First-born twins had greater BMI than the second-born twins over childhood and adolescence. After adjusting the results for birth weight, birth order was still associated with BMI until 12 years of age. No interaction effect between birth order and zygosity was found. Only limited evidence was found that birth order influenced variances of height or BMI. The results were similar among boys and girls and also in MZ and DZ twins. Overall, the differences in height and BMI between first- and second-born twins were modest even in early childhood, while adjustment for birth weight reduced the birth order differences but did not remove them for BMI. PMID:26996222

  19. Peer reports of adaptive behavior in twins and singletons: is twinship a risk or an advantage?

    PubMed

    Pulkkinen, Lea; Vaalamo, Inka; Hietala, Risto; Kaprio, Jaakko; Rose, Richard J

    2003-04-01

    We compared twins to their gender-matched singleton classmates in peer-assessed behavioral adjustment. Our samples include 1874 11- to 12-year-old Finnish twins (687 monozygotic, MZ; 610 same-sex dizygotic, SSDZ; 577 opposite-sex dizygotic, OSDZ) and their 23,200 non-twin classmates. Data were collected using a 30-item Multidimensional Peer Nomination Inventory containing three factors and their subscales. We found twin-singleton differences: classmates rated twin girls and boys higher than gender-matched singletons in Adaptive Behaviors (constructive, compliant, and socially active behavior), and those effects were particularly evident among OSDZ twins for assessments of social interaction, popularity, and leadership. We found no evidence that individual twins differ from singletons in Externalizing (hyperactivity-impulsivity, inattention, aggression) or Internalizing Problem Behaviors (depressive symptoms, social anxiety). Nor did we find systematic differences between MZ and SSDZ twins. Among both twins and singletons, boys exceeded girls in Externalizing, and girls exceeded boys in Internalizing Problem Behaviors. Results suggest that a twinship forms a positive developmental environment for socioemotional behavior, particularly among OSDZ twins. PMID:12723997

  20. Unicameral Bone Cyst in the Calcaneus of Mirror Image Twins.

    PubMed

    Lenze, Ulrich; Stolberg-Stolberg, Josef; Pohlig, Florian; Lenze, Florian; von Eisenhart-Rothe, Rüdiger; Rechl, Hans; Toepfer, Andreas

    2015-01-01

    Unicameral bone cysts (UBCs) are benign tumor-like lesions that commonly occur in the diaphyseal or metaphyseal region of the long bones within the first 2 decades of life. Until today, the pathogenesis of UBC has been unclear, but mechanisms such as vascular occlusion or a response to trauma have been supposed. During the past decade, in particular, the genetic aspects of the development of this rare lesion have been discussed. We present the first case of mirror image monozygotic twins with a mirror image UBC of the calcaneus. Our findings reinforce the importance of additional studies to understand the significance of cytogenetic factors in the etiology of UBC. PMID:25435010

  1. One-way unlocalizable quantum discord

    NASA Astrophysics Data System (ADS)

    Xi, Zhengjun; Fan, Heng; Li, Yongming

    2012-05-01

    In this paper, we present the concept of the one-way unlocalizable quantum discord and investigate its properties. We provide a polygamy inequality for it in a tripartite pure quantum system of arbitrary dimension. Several tradeoff relations between the one-way unlocalizable quantum discord and other correlations are given. If the von Neumann measurement is made on a part of the system, we give two expressions of the one-way unlocalizable quantum discord in terms of partial distillable entanglement and quantum disturbance. Finally, we also provide a lower bound for bipartite shareability of quantum correlation beyond entanglement in a tripartite system.

  2. Global quantum discord in multipartite systems

    SciTech Connect

    Rulli, C. C.; Sarandy, M. S.

    2011-10-15

    We propose a global measure for quantum correlations in multipartite systems, which is obtained by suitably recasting the quantum discord in terms of relative entropy and local von Neumann measurements. The measure is symmetric with respect to subsystem exchange and is shown to be nonnegative for an arbitrary state. As an illustration, we consider tripartite correlations in the Werner-GHZ (Greenberger-Horne-Zeilinger) state and multipartite correlations at quantum criticality. In particular, in contrast with the pairwise quantum discord, we show that the global quantum discord is able to characterize the infinite-order quantum phase transition in the Ashkin-Teller spin chain.

  3. A twin-case study of developmental number sense impairment.

    PubMed

    Davidse, Neeltje J; de Jong, Maria T; Shaul, Shelley; Bus, Adriana G

    2014-01-01

    The current study reports on 9-year-old monozygotic twin girls who fail to make any progress in learning basic mathematics in primary education. We tested the hypothesis that the twins' core maths problems were deficits in number sense that manifested as impairments in approximate and small number systems, resulting in impairment in nonsymbolic as well as in symbolic processing. While age-matched controls (eight typically developing girls) scored highly, the twins scored at chance on all number sense tasks. More specifically, on a nonsymbolic comparison task, even in the simplest ratio condition of 1:2, and on a subitizing task including only numbers under 4, the twins performed at chance and significantly below the same age control group. Responsiveness to an intervention promoting number sense is discussed. As differences between verbal and performance IQ suggest, there seems to be a high degree of specificity in the twins' developmental number sense delays. The concomitant impairments for visual-spatial processing and working memory in the twins might explain the failure to develop number sense. PMID:24479698

  4. The Host Genotype and Environment Affect Strain Types of Bifidobacterium longum subsp. longum Inhabiting the Intestinal Tracts of Twins

    PubMed Central

    Zhang, Min; Hang, Xiaomin; Tan, Jing

    2015-01-01

    To investigate the influences of host genotype and environment on Bifidobacterium longum subsp. longum inhabiting human intestines at the strain level, six pairs of twins, divided into two groups (children and adults), were recruited. Each group consisted of two monozygotic (MZ) twin pairs and one dizygotic (DZ) twin pair. Child twins had been living together from birth, while adult twins had been living separately for 5 to 10 years. A total of 345 B. longum subsp. longum isolates obtained from 60 fecal samples from these twins were analyzed by multilocus sequence typing (MLST), and 35 sequence types (STs) were finally acquired. Comparison of strains within and between the twin pairs showed that no strains with identical STs were observed between unrelated individuals or within adult DZ twin pairs. Eight STs were found to be monophyletic, existing within MZ twins and child DZ twins. The similarity of strain types within child cotwins was significantly higher than that within adult cotwins, which indicated that environment was one of the important determinants in B. longum subsp. longum strain types inhabiting human intestines. However, although these differences between MZ and DZ twins were observed, it is still difficult to reach an exact conclusion about the impact of host genotype. This is mainly because of the limited number of subjects tested in the present study and the lack of strain types tracing in the same twin pairs from birth until adulthood. PMID:25956768

  5. A Genetic Multimutation Model of Autism Spectrum Disorder Fits Disparate Twin Concordance Data from the USA and Canada

    PubMed Central

    Lipkin, Paul H.; Marvin, Alison R.; Law, Paul A.

    2015-01-01

    Whether autism spectrum disorder (ASD) is caused by genetics, environmental factors, or a combination of both is still being debated today. To help resolve this issue, a genetic multimutation model of ASD development was applied to a wide variety of age-of-onset data from the USA and Canada, and the model is shown to fit all the data. Included in this analysis is new, updated data from the Interactive Autism Network (IAN) of the Kennedy Krieger Institute in Baltimore, Maryland. We find that the age-of-onset distribution for males and females is identical, suggesting that ASD may be an autosomal disorder. The ASD monozygote concordance rate in twin data predicted by the genetic multimutation model is shown to be compatible with the observed rates. If ASD is caused entirely by genetics, then the ASD concordance rate of a cohort of monozygote twins should approach 100% as the youngest pair of twins in the cohort passes 10 years of age, a prediction that constitutes a critical test of the genetic hypothesis. Thus, by measuring the ASD concordance rate as a cohort of monozygote twins age, the hypothesis that this disorder is caused entirely by genetic mutations can be tested.

  6. Twin anemia-polycythemia sequence after laser surgery for twin-twin transfusion syndrome and maternal morbidity.

    PubMed

    Taniguchi, Kosuke; Sumie, Masahiro; Sugibayashi, Rika; Wada, Seiji; Matsuoka, Kentaro; Sago, Haruhiko

    2015-01-01

    Twin anemia-polycythemia sequence (TAPS) is characterized by large inter-twin hemoglobin value differences without inter-twin amniotic fluid discordance. The management of post-laser TAPS remains controversial. Hence, more studies on TAPS, together with the associated maternal complications and outcome of the fetuses and infants are needed. Between 2003 and 2012, we performed 287 cases of fetoscopic laser photocoagulation for twin-twin transfusion syndrome. Among the 114 who were placed under our care until delivery, three cases of TAPS occurred. In one case, we conducted intrauterine intravenous transfusion, while in the other two cases, we adopted expectant management. We performed an emergency caesarean section at 27-30 weeks of gestation in all cases due to a severe condition of anemia in the TAPS donor. Two cases with antenatal TAPS stage 4 had severe maternal complications; one had minute pulmonary embolism, while the other had Mirror syndrome. All three pairs of infants survived. One TAPS donor and one TAPS recipient had neurodevelopmental impairment; bilateral deafness at 9.5 years old and spastic paralysis at 2 years old, respectively. In conclusion, post-laser TAPS in a higher stage can cause severe maternal complications. Close observations for both fetuses and mothers are required for such cases. PMID:25613794

  7. Familial factors in early deaths: twins followed 30 years to ages 51-61 in 1978.

    PubMed

    Hrubec, Z; Neel, J V

    1981-01-01

    Subjects in the National Academy of Sciences-National Research Council Twin Registry of 31,848 male twin veterans were followed for mortality from 1 January 1946, or from the date of entry into military service if that was later, to 31 December 1978. During this time 3,573 deaths occurred among them, 837 due to trauma and 2,712 due to disease. Mortality from all causes for the entire follow-up period was 10.2% among 11,350 monozygotic (MZ) twins and 11.4% among 14,450 dizygotic (DZ) twins. Mortality of veterans is known to be favorable compared to U.S. males. Among U.S. males of the same ages as the two respective twin zygosity groups, a mortality of 13.9% would have been expected during this time period. Observed mortality from trauma was 2.3% for MZ twins and 2.5% for DZ twins, with 3.0% expected in either group. Observed mortality from all disease was 7.9% for MZ twins and 8.8% for DZ twins, with 10.9% expected in either group. For total mortality, the case twin concordance rates, based on individual deaths, were 28.2% among MZ twins and 17.7% among DZ twins. For trauma, respectively by zygosity, these concordance rates were 6.9% and 3.9%. In this sample, familial factors appear to be of little consequence in trauma deaths. For all disease the concordance rates were 30.1% and 17.4%. Estimating heritability of liability to death from disease, as proposed by Edwards (1969), provides values of h2 = r = 0.51 for MZ twins, h2 = 2r = 0.48 for DZ twins, and h2 = 2(rMZ-rDZ) = 0.54 using data for the two zygosity groups combined. PMID:10819020

  8. Compatibility and conflict: negotiation of relationships by dizygotic same-sex twin girls.

    PubMed

    Danby, Susan; Thorpe, Karen

    2006-02-01

    This article conceptualizes the child as having active agency in the constructions of their social worlds, and reports on a study that understands the twin experiences from the perspectives of the twins. It examines how twins account for their relationships with their co-twins. The study drew on accounts of 60 twin children--10 monozygotic (MZ), 10 dizygotic (DZ) same-sex, 10 DZ opposite-sex pairs--aged 5 to 10 years and their parent (n = 30). The children engaged in a sticker activity in which they represented their friendships, including their friendship with their co-twin. Using the task as a resource, the children were asked about their friends, the attributes of friendship and examples of everyday friendships encounters. These were audio-recorded and transcribed. Further, parents completed a questionnaire that provided demographic information and asked parents about the children's social experiences including twin children's time spent together, shared interests and their co-twin relationship. Using data from the pictorial representation from the sticker task and parent questionnaires, differences in relationship between MZ, DZ same-sex and DZ opposite-sex twins were examined and used to select a smaller sample for detailed study. DZ same-sex twins tended to view their co-twin less favorably and there was a nonsignificant trend in which conflict was elevated, compared to the other two groups. Based on these findings, the transcripts selected for analysis focuses on the DZ same-sex girls. The girls reported that they had differences of thought, activity and self-presentation. Conflict, competition and challenge as types of social interaction were described, suggesting that the everyday relationship of the twin with her co-twin is always being negotiated and realigned. Evident here is the complexity of social interactions in which the twins engaged everyday with each other. PMID:16611475

  9. Quantum Discord Cannot Be Shared

    NASA Astrophysics Data System (ADS)

    Streltsov, Alexander; Zurek, Wojciech H.

    2013-07-01

    Bohr proposed that the outcome of a measurement becomes objective and real, and, hence, classical, when its results can be communicated by classical means. In this work we revisit Bohr’s postulate using modern tools from quantum information theory. We find a full confirmation of Bohr’s idea: if a measurement device is in a nonclassical state, the measurement results cannot be communicated perfectly by classical means. In this case some part of the information in the measurement apparatus is lost in the process of communication: the amount of this lost information turns out to be the quantum discord. The information loss occurs even when the apparatus is not entangled with the system of interest. The tools presented in this work allow us to generalize Bohr’s postulate: we show that for pure system-apparatus states quantum communication does not provide any advantage when measurement results are communicated to more than one recipient. We further demonstrate the superiority of quantum communication to two recipients on a mixed system-apparatus state and show that this effect is fundamentally different from quantum state cloning.

  10. Twin supergravities

    NASA Astrophysics Data System (ADS)

    Roest, Diederik; Samtleben, Henning

    2009-08-01

    We study the phenomenon that pairs of supergravities can have identical bosonic field content but different fermionic extensions. Such twin theories are classified and shown to originate as truncations of a common theory with more supersymmetry. Moreover, we discuss the possible gaugings and scalar potentials of twin theories. This allows us to pinpoint to which extent these structures are determined by the purely bosonic structure of the underlying Kac-Moody algebras and where supersymmetry comes to play its role. As an example, we analyse the gaugings of the six-dimensional {\\cal N}=(0,1) and {\\cal N}=(2,1) theories with an identical bosonic sector and explicitly work out their scalar potentials. The discrepancy between the potentials finds a natural explanation within maximal supergravity, in which both theories may be embedded.

  11. The Significance for Intelligence of Differences in Birth-Weight and Health within Monozygotic Twin Pairs.

    ERIC Educational Resources Information Center

    Marsh, R. W.

    1980-01-01

    This paper presents further evidence to demonstrate the existence of intra-uterine effects within the normal range of intelligence. The argument is then extended further to estimate the effects of organic factors in the environment that are also pathogenic for intelligence. Various implications of these factors are discussed. (Author/KC)

  12. Associations between Sexual Abstinence Ideals, Religiosity, and Alcohol Abstinence: A Longitudinal Study of Finnish Twins

    PubMed Central

    Winter, Torsten; Karvonen, Sakari; Rose, Richard J.

    2016-01-01

    We analyzed prevalence and stability of attitudes endorsing sexual abstinence ideals from late adolescence into early adulthood and studied associations of these attitudes with religiosity and alcohol abstinence in a sexually liberal Nordic society. Our population-based sample of Finnish twins permitted comparisons of co-twins concordant for religiosity but discordant for drinking to evaluate the association of sexual abstinence ideals with alcohol abstinence, controlling for household environment. From age 17 to 24, endorsement of sexual abstinence as a romantic ideal declined from 25% to 15%. Religiosity and alcohol abstinence correlated, both separately and together, with endorsing sexual abstinence. Abstinence ideals were associated with literal belief in fundamental tenets of the Bible. The association of sexual abstinence ideals with alcohol abstinence was confirmed in within-family comparisons of co-twins discordant for drinking but concordant for religiosity. Alcohol-abstinent twins were significantly more likely than their non-alcohol-abstinent twin siblings to endorse sexual abstinence ideals; that result suggests the association of sexual abstinence ideals with abstaining from alcohol is not explained by unmeasured confounds in familial background and structure. Our longitudinal results and analyses of discordant twins suggest that attitudes toward sexual abstinence ideals are embedded within other conservative attitudes and behaviors. PMID:23301620

  13. Doppler assessment of fetal aortic isthmus flow in twin

    PubMed Central

    Lee, Soon Pyo; Lee, Chae Min; Jung, Sun Young; Park, Han Na

    2015-01-01

    Objective The purpose of this study was to investigate the aortic isthmus (AoI) flow difference between larger fetus and smaller fetus of twin; and to evaluate the predictive value of early diagnosis of hemodynamic change in twin growth. Methods This prospective study on 49 pairs of twin fetuses was performed to obtain AoI blood flow data. Cases with structural or chromosomal abnormalities and co-twin death were excluded. The interval from examination to delivery was within 4 weeks and 3 cases over 4 weeks interval were re-examined. Assessment of fetal AoI Doppler parameters were peak systolic velocity (PSV), end-diastolic velocity, times-averaged maximum velocities, pulsatility index (PI), and resistance index (RI). According to the direction of the diastolic flow in the AoI, antegrade and retrograde flow were made and was used to analyze the perinatal outcomes of each fetus. The predictive value of AoI Doppler parameters in predicting fetal growth was obtained by using ANOVA and logistic regression analysis of quantitative variables in each fetus of twins. Results There were significant differences in the gestational weeks at delivery, birth weight and the incidence of growth discordance over 20% or more between monochorionic twin and dichorionic twin. The AoI PI and RI were significantly higher in smaller fetus than in larger regardless of chorionicity. Retrograde flow was noted in 8 of 98 cases (8.2%) and the only one case was of the larger fetus and the others were smaller fetuses of twin. Significant correlations were found between the AoI PI and birthweight (P=0.018) and between the PSV and growth discordance (P=0.032). In monochorionic twin, linear correlation was shown between the AoI PI and birthweight (P=0.004) and between AoI PI and growth discordance (P=0.031). Also, the meaningful correlation between the PSV and birthweight (P=0.036) was found by using logistic regression analyses. Conclusion On the basis of our observation, AoI PI has revealed their

  14. Twinning of dodecanedicarboxylic acid

    NASA Technical Reports Server (NTRS)

    Sen, R.; Wilcox, W. R.

    1986-01-01

    Twinning of 1,10-dodecanedicarboxyl acid (DDA) was observed in 0.1 mm thick films with a polarizing microscope. Twins originated from polycrystalline regions which tended to nucleate on twin faces, and terminated by intersection gone another. Twinning increased dramatically with addition of organic compounds with a similar molecular size and shape. Increasing the freezing rate, increasing the temperature gradient, and addition of silica particles increased twinning. It is proposed that twins nucleate with polycrystals and sometimes anneal out before they become observable. The impurities may enhance twinning either by lowering the twin energy or by adsorbing on growing faces.

  15. [Interpair differences in the characteristics of the ontogeny, premorbid personality and severity of schizophrenia in twins].

    PubMed

    Moskalenko, V D

    1980-01-01

    In each of the studied 124 pairs, a twin A was distinguished (the patient with manifest symptoms in the discordant pairs, or more seriously affected twin in concordant pairs) and twin B--its partner. It was demonstrated that the order of birth, differences in the weight at birth, periodization of development do not correlate with the differences in the clinical expression of schizophrenia. Such unfavourable factors as asphyxia, complications during delivery, severe somatic illnesses had a certain tendency to accumulate in twin A. The most distinct correlation was found between the traits of a premorbid personality and the eventual intrapair differences in the severeity of schizophrenia. Twin A in the majority of the cases was more excitable in childhood, had more fears, slept worse, and had a poor appetite. The twin A by its premorbid traits was generally characterized by prevalent asthenic features, withdrawal signs and a more dysharmonic type of personality. PMID:7188820

  16. Quantum Discord for d⊗2 Systems

    PubMed Central

    Ma, Zhihao; Chen, Zhihua; Fanchini, Felipe Fernandes; Fei, Shao-Ming

    2015-01-01

    We present an analytical solution for classical correlation, defined in terms of linear entropy, in an arbitrary system when the second subsystem is measured. We show that the optimal measurements used in the maximization of the classical correlation in terms of linear entropy, when used to calculate the quantum discord in terms of von Neumann entropy, result in a tight upper bound for arbitrary systems. This bound agrees with all known analytical results about quantum discord in terms of von Neumann entropy and, when comparing it with the numerical results for 106 two-qubit random density matrices, we obtain an average deviation of order 10−4. Furthermore, our results give a way to calculate the quantum discord for arbitrary n-qubit GHZ and W states evolving under the action of the amplitude damping noisy channel. PMID:26036771

  17. Quantum Discord for d⊗2 Systems.

    PubMed

    Ma, Zhihao; Chen, Zhihua; Fanchini, Felipe Fernandes; Fei, Shao-Ming

    2015-01-01

    We present an analytical solution for classical correlation, defined in terms of linear entropy, in an arbitrary system when the second subsystem is measured. We show that the optimal measurements used in the maximization of the classical correlation in terms of linear entropy, when used to calculate the quantum discord in terms of von Neumann entropy, result in a tight upper bound for arbitrary d⊗2 systems. This bound agrees with all known analytical results about quantum discord in terms of von Neumann entropy and, when comparing it with the numerical results for 10(6) two-qubit random density matrices, we obtain an average deviation of order 10(-4). Furthermore, our results give a way to calculate the quantum discord for arbitrary n-qubit GHZ and W states evolving under the action of the amplitude damping noisy channel. PMID:26036771

  18. Discordant evaluations of Blacks affect nonverbal behavior.

    PubMed

    Olson, Michael A; Fazio, Russell H

    2007-09-01

    Previous research suggests that automatic prejudice directly manifests in nonverbal behavior. The authors offer a more complex picture of the relation between automatic processes and nonverbal behavior by suggesting that any discomfort that appears in nonverbal behavior stems not from negative attitudes per se but from discordance between automatically activated attitudes toward Blacks and the specific evaluations being expressed. White participants for whom estimates of automatic prejudice were available provided videotaped evaluations of several individuals, including two matched Black and White males. Discordance between general racial attitudes and evaluations of specific targets manifested in discomfort-related nonverbal behavior. Moreover, naïve Black judges, but not White judges, doubted the sincerity of individuals characterized by discordance. The nature of the nonverbal "leakage" that automatic prejudice produces is discussed. PMID:17545414

  19. A test of the equal-environment assumption in twin studies of psychiatric illness.

    PubMed

    Kendler, K S; Neale, M C; Kessler, R C; Heath, A C; Eaves, L J

    1993-01-01

    The traditional twin method is predicated on the equal-environment assumption (EEA)--that monozygotic (MZ) and dizygotic (DZ) twins are equally correlated in their exposure to environmental events of etiologic importance for the trait under study. In 1968, Scarr proposed a test of the EEA which examines the impact of phenotypic similarity in twins of perceived versus true zygosity. We apply this test for the EEA to five common psychiatric disorders (major depression, generalized anxiety disorder, phobia, bulimia, and alcoholism), as assessed by personal interview, in 1030 female-female twin pairs from the Virginia Twin Registry with known zygosity. We use a newly developed model-fitting approach which treats perceived zygosity as a form of specified familial environment. In 158 of the 1030 pairs (15.3%), one or both twins disagreed with the project-assigned zygosity. Model fitting provided no evidence for a significant influence of perceived zygosity on twin resemblance for any of the five disorders. Although limited in power, these results support the validity of the EEA in twin studies of psychiatric disorders. PMID:8476388

  20. Twinning in the offspring of parents with chronic radiation exposure from nuclear testing in Kazakhstan.

    PubMed

    Mudie, Nadejda Y; Swerdlow, Anthony J; Gusev, Boris I; Schoemaker, Minouk J; Pivina, Ludmila M; Chsherbakova, Svetlana; Mansarina, Almagul; Bauer, Susanne; Jakovlev, Yuri; Apsalikov, Kazbek N

    2010-06-01

    The population of the Semipalatinsk region of Kazakhstan was chronically exposed to radioactive fallout from above-ground nuclear tests conducted during 1949-1956 by the Soviet Union. We investigated the effect of radiation exposure and other factors on risks of twinning overall and of same- and different-sex twinning and hence estimated dizygotic and monozygotic twinning rates in 11,605 deliveries around Semipalatinsk, 141 of which were twin, to 3992 mothers exposed to fallout during 1949-1956. Overall, the same-sex twinning rate was 7.85 [95% confidence interval (CI): 6.24, 9.47] per 1000 and the opposite-sex twinning rate was 4.45 (95% CI: 3.23, 5.67). Twinning rates did not differ significantly between radiation exposure categories, parental age at main radiation exposure, or year of birth. Different-sex, but not same-sex, twinning increased with maternal age (P(trend) = 0.04) but not with other demographic factors and was increased soon after radiation exposure [OR = 4.08 (95% CI: 1.11, 15.07)] for births occurring within 5 years compared with more than 20 years after exposure; this effect was similar in villages with low and high radiation exposure, however, so interpretation is uncertain. PMID:20518662

  1. Examining Associations Among ADHD, Homework Behavior, and Reading Comprehension: A Twin Study.

    PubMed

    Little, Callie W; Hart, Sara A; Schatschneider, Christopher; Taylor, Jeanette

    2016-07-01

    Previous literature has indicated an important association between reading comprehension and both attention-deficit/hyperactivity disorder (ADHD) and homework habits. This investigation sought to extend previous knowledge by providing information about how ADHD and homework behavior (i.e., completing homework regularly) may jointly influence reading comprehension. Using a genetically sensitive design, this study examined the genetic and environmental influences on and between ADHD, homework behavior and reading comprehension. Participants for this study included 691 twin pairs (351 monozygotic, 340 same-sex dizygotic) from the Florida Twin Project on Behavior and Environment (FTP-BE) and 2647 twin pairs (865 monozygotic, 1782 dizygotic) from the larger Florida Twin Project on Reading (FTP-R) in Grades 3 through 7. Three separate models, each representing a different definition of ADHD (full ADHD, inattention only, and hyperactivity/impulsivity only), showed similar patterns of results; therefore, results of the full ADHD model are discussed. Overlapping genetic influences were found between ADHD, homework behavior, and reading comprehension, but no shared environmental influences among all three. However, shared environmental influences overlapped between homework behavior and reading comprehension. Although the sources of this environmental overlap are unknown, these results have implications for improving homework practices and their subsequent influence on literacy skills through homework environments. PMID:25349092

  2. APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair.

    PubMed

    Kofman, Tomek; Audard, Vincent; Narjoz, Céline; Gribouval, Olivier; Matignon, Marie; Leibler, Claire; Desvaux, Dominique; Lang, Philippe; Grimbert, Philippe

    2014-05-01

    We report an occurrence of progressive loss of transplant function and ultimately transplant failure after living related kidney transplantation involving monozygotic twin brothers of Afro-Caribbean origin who were both heterozygous for the G1 and G2 kidney disease risk alleles in the APOL1 gene, which encodes apolipoprotein L-I. A 21-year-old man with end-stage kidney disease of unknown cause received a kidney from his brother, who was confirmed as a monozygotic twin by microsatellite analysis. Thirty months after transplantation, the patient presented with proteinuria and decreased estimated glomerular filtration rate; a biopsy of the transplant showed typical focal segmental glomerulosclerosis lesions. He received steroid therapy, but progressed to kidney failure 5 years later. The twin brother had normal kidney function without proteinuria at the time of transplantation; however, 7 years later, he was found to have decreased estimated glomerular filtration rate (40mL/min/1.73m(2)) and proteinuria (protein excretion of 2.5g/d). APOL1 genotyping revealed that both donor and recipient were heterozygous for the G1 and G2 alleles. This case is in stark contrast to the expected course of kidney transplantation in identical twins and suggests a role for APOL1 polymorphisms in both the donor and recipient. PMID:24518129

  3. Interpreting quantum discord through quantum state merging

    SciTech Connect

    Madhok, Vaibhav; Datta, Animesh

    2011-03-15

    We present an operational interpretation of quantum discord based on the quantum state merging protocol. Quantum discord is the markup in the cost of quantum communication in the process of quantum state merging, if one discards relevant prior information. Our interpretation has an intuitive explanation based on the strong subadditivity of von Neumann entropy. We use our result to provide operational interpretations of other quantities like the local purity and quantum deficit. Finally, we discuss in brief some instances where our interpretation is valid in the single-copy scenario.

  4. Erythroblastosis of the Donor Twin of Twin Anemia-Polycythemia Sequence.

    PubMed

    Takeuchi, Miharu; Maruyama, Hidehiko; Oura, Naoko; Kanazawa, Akane; Nakata, Yusei; Minami, Susumu; Kikkawa, Kiyoshi

    2016-08-01

    Twin anemia-polycythemia sequence (TAPS) is a group of disorders in monochorionic twins characterized by a large intertwin hemoglobin difference without amniotic fluid discordance. Reticulocyte count is used to diagnose this condition, but little is known about the role of erythroblasts, which are the prior stage of reticulocytes. In the present case of TAPS, the 25-yr-old Japanese mother showed no signs of oligohydramnios or polyhydramnios throughout gestation. The twins were born at 36 weeks and 6 days, weighing 2,648g and 1,994g. The intertwin hemoglobin difference in umbilical cord blood was (21.1-5.0=) 16.1g/dL and the donor twin showed signs of chronic anemia, including myocardial hypertrophy and pericardial effusion. Erythroblastosis of the donor twin was prolonged (53,088.5, 42,114.8 and 44,217.9/μL on days 0, 1 and 2, respectively). Erythroblastosis, which indicates chronic anemia, is also a good diagnostic indicator of TAPS. PMID:27549671

  5. Zygosity differences in height and body mass index of twins from infancy to old age: A study of the CODATwins project

    PubMed Central

    Jelenkovic, Aline; Yokoyama, Yoshie; Sund, Reijo; Honda, Chika; Bogl, Leonie H; Aaltonen, Sari; Ji, Fuling; Ning, Feng; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Tarnoki, Adam D; Tarnoki, David L; Haworth, Claire MA; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Kim, Bia; Chong, Youngsook; Hong, Changhee; Shin, Hyun Jung; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik KE; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos CEM; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Boomsma, Dorret I; Sørensen, Thorkild IA; Kaprio, Jaakko; Silventoinen, Karri

    2015-01-01

    A trend towards greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in means and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the CODATwins project and included 842,951 height and BMI measurements from age 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Likewise, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast the variance of BMI was significantly higher in DZ than in MZ twins particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes. PMID:26337138

  6. Twin Jet

    NASA Technical Reports Server (NTRS)

    Henderson, Brenda; Bozak, Rick

    2010-01-01

    Many subsonic and supersonic vehicles in the current fleet have multiple engines mounted near one another. Some future vehicle concepts may use innovative propulsion systems such as distributed propulsion which will result in multiple jets mounted in close proximity. Engine configurations with multiple jets have the ability to exploit jet-by-jet shielding which may significantly reduce noise. Jet-by-jet shielding is the ability of one jet to shield noise that is emitted by another jet. The sensitivity of jet-by-jet shielding to jet spacing and simulated flight stream Mach number are not well understood. The current experiment investigates the impact of jet spacing, jet operating condition, and flight stream Mach number on the noise radiated from subsonic and supersonic twin jets.

  7. Parental Marital Discord and Treatment Response in Depressed Adolescents

    ERIC Educational Resources Information Center

    Amaya, Meredith M.; Reinecke, Mark A.; Silva, Susan G.; March, John S.

    2011-01-01

    Evidence suggests that parental marital discord contributes to the development of internalizing and externalizing symptoms in children and adolescents. Few studies, however, have examined the association between parental marital discord and youth's response to treatment. The present study examined the impact of interparental discord on treatment…

  8. Job demands and dementia risk among male twin pairs

    PubMed Central

    Potter, Guy G.; Helms, Michael J.; Burke, James R.; Steffens, David C.; Plassman, Brenda L.

    2007-01-01

    Background Job characteristics may influence dementia risk, but some types of job complexity remain to be examined. Twin studies provide a useful methodology to examine job differences between pairs who share many environmental and genetic influences. Methods Members of the NAS-NRC Twins Registry of World War II Veterans received a clinical evaluation for dementia and had job ratings from the Dictionary of Occupational Titles. Results Cotwin-control models (n = 220 pairs) indicated lower dementia risk with greater job demands of reasoning, mathematics, language, and vocational training, with comparable results in case-control models (n=425 cases). These effects were significant among twin pairs discordant for 6 or more years, but not among those discordant between 3–5 years. Results were similar for Alzheimer’s disease, and main effects were not further explained by zygosity or apolipoprotein E genotype. Conclusions Jobs that utilize data, academic skills, and extensive vocational training may protect against dementia; however, in twin pairs these effects only emerged among individuals who remained free of dementia several years after onset in their sibling. PMID:18591984

  9. Epidemiology of twinning in the National Birth Defects Prevention Study, 1997–2007

    PubMed Central

    Dawson, April L.; Tinker, Sarah C.; Jamieson, Denise J.; Hobbs, Charlotte A.; Rasmussen, Sonja A.; Reefhuis, Jennita

    2015-01-01

    Background Our objective was to evaluate associations between twinning and maternal demographic factors and periconceptional exposures among infants with and without orofacial clefts. Methods We used data from the National Birth Defects Prevention Study; 228 twins and 8,242 singletons without birth defects (controls), and 117 twins and 2,859 singletons with orofacial clefts, born 1997–2007, were included in the analyses. Because of the occurrence of twinning due to the use of assisted reproductive technologies, logistic regression models were computed to estimate odds ratios (OR) and 95% confidence intervals (CIs) for each exposure, stratified by fertility treatment use. To evaluate factors by zygosity, we used sex-pairing data and a simulation approach to estimate the zygosity of like-sex twin pairs for unassisted conceptions. Results Among control mothers who did not use fertility treatments, predictors of twinning included non-Hispanic black maternal race (adjusted OR: 1.6, 95% CI: 1.0–2.4), and tobacco smoking (1.6, 1.1–2.4). Among control mothers who used fertility treatments, older maternal age, higher income, and state of residence were associated with twinning. Associations were generally stronger among mothers of dizygotic (estimated) twins than monozygotic (estimated) twins. Results for mothers of infants with isolated orofacial clefts were similar to those of controls. Conclusion We observed an increased twinning frequency with increasing maternal age, but factors such as maternal race/ethnicity and socioeconomic status may also contribute. Among women receiving fertility treatments, factors associated with twinning suggested a relation with treatment specifics (e.g., treatment type and number of embryos implanted) and availability of insurance coverage. PMID:25359509

  10. Genetic determination of sibship and twin zygosity in a case of an alleged double infant homicide.

    PubMed

    von Wurmb-Schwark, Nicole; Schwark, Thorsten

    2009-04-01

    A 32 year-old woman was hospitalised with severe septic symptoms. The examination of the patient revealed placenta residues in the woman's uterus as cause of the infection. The police was called and investigated her apartment in search of the missing baby. Finally, the bodies of two newborn babies were found in the freezer. According to the mother, the babies were stillborn twins. The autopsy revealed that the smaller, moderately putrefied child was stillborn, while the larger infant showed typical signs of drowning and only slight putrefaction. The placenta was judged by gynaecologists to be that of a single pregnancy. Thus the prosecution suspected that the woman had had two independent pregnancies and ordered an additional genetic analysis. A genetic analysis clearly revealed that the babies were monozygotic twins, supporting the mother's statement of a twin pregnancy. PMID:19269233

  11. Parental style. Mothers' and fathers' and perceptions of their relations with twin children.

    PubMed

    Cohen, D J; Dibble, E; Grawe, J M

    1977-04-01

    Mothers and fathers rated their interaction with twin children on the Parent's Report (PR) questionnaire containing two scales-how the parent actually relates and how the ideal parent would relate. Mothers and fathers differed in parental style. Mothers perceived themselves as being profoundly more child-centered; fathers perceived themselves as using more control through arousal of guilt and anxiety. Parents asserted more control through temper and detachment with same-sex children. Boys and girls and monozygotic (MZ) and dizygotic (DZ) twins did not receive distinctly different parenting. Parents described MZ children as much more similar than DZ children but acted similarly with children in both types of twinships. Parental knowledge of zygosity did not affect the way the parents treated children. These findings suggest the relative importance of genetic contributions to behavioral similarity in MZ twins. PMID:557964

  12. The Role of Nature and Nurture for Individual Differences in Primary Emotional Systems: Evidence from a Twin Study.

    PubMed

    Montag, Christian; Hahn, Elisabeth; Reuter, Martin; Spinath, Frank M; Davis, Ken; Panksepp, Jaak

    2016-01-01

    The present study investigated for the first time the relative importance of genetics and environment on individual differences in primary emotionality as measured with the Affective Neuroscience Personality Scales (ANPS) by means of a twin-sibling study design. In N = 795 participants (n = 303 monozygotic twins, n = 172 dizygotic twins and n = 267 non-twin full siblings), moderate to strong influences of genetics on individual differences in these emotional systems are observed. Lowest heritability estimates are presented for the SEEKING system (33%) and highest for the PLAY system (69%). Further, multivariate genetic modeling was applied to the data showing that associations among the six ANPS scales were influences by both, a genetic as well as an environmental overlap between them. In sum, the study underlines the usefulness of the ANPS for biologically oriented personality psychology research. PMID:26999649

  13. The Role of Nature and Nurture for Individual Differences in Primary Emotional Systems: Evidence from a Twin Study

    PubMed Central

    Reuter, Martin; Spinath, Frank M.; Davis, Ken; Panksepp, Jaak

    2016-01-01

    The present study investigated for the first time the relative importance of genetics and environment on individual differences in primary emotionality as measured with the Affective Neuroscience Personality Scales (ANPS) by means of a twin-sibling study design. In N = 795 participants (n = 303 monozygotic twins, n = 172 dizygotic twins and n = 267 non-twin full siblings), moderate to strong influences of genetics on individual differences in these emotional systems are observed. Lowest heritability estimates are presented for the SEEKING system (33%) and highest for the PLAY system (69%). Further, multivariate genetic modeling was applied to the data showing that associations among the six ANPS scales were influences by both, a genetic as well as an environmental overlap between them. In sum, the study underlines the usefulness of the ANPS for biologically oriented personality psychology research. PMID:26999649

  14. Mental representations of attachment in identical female twins with and without conduct problems.

    PubMed

    Constantino, John N; Chackes, Laura M; Wartner, Ulrike G; Gross, Maggie; Brophy, Susan L; Vitale, Josie; Heath, Andrew C

    2006-01-01

    Insecure mental representations of attachment, a nearly invariant feature of cluster B personality disorders, have never previously been studied in twins. We conducted the Adult Attachment Interview (AAI) on 33 pairs of monozygotic (MZ) female twins reared together as an initial exploration of causal influences on mental representations of attachment. As predicted by attachment theory, we observed substantial twin-twin concordance for attachment security (odds ratio 13.8; P = 0.001), a similar level of concordance between twins and their non-twin siblings, and an inverse relationship between attachment security and current level of aggression (P = 0.01). These data indicate that there are minimal effects of non-shared environmental influences (or measurement error) on attachment classifications derived from the AAI. In this sample of twins with and without histories of Conduct Disorder, mental representations of attachment appear to be highly familial, i.e., strongly influenced by either shared environmental factors, genetic factors, or both. PMID:16804751

  15. The Nature and Nurture of Melody: A Twin Study of Musical Pitch and Rhythm Perception.

    PubMed

    Seesjärvi, Erik; Särkämö, Teppo; Vuoksimaa, Eero; Tervaniemi, Mari; Peretz, Isabelle; Kaprio, Jaakko

    2016-07-01

    Both genetic and environmental factors are known to play a role in our ability to perceive music, but the degree to which they influence different aspects of music cognition is still unclear. We investigated the relative contribution of genetic and environmental effects on melody perception in 384 young adult twins [69 full monozygotic (MZ) twin pairs, 44 full dizygotic (DZ) twin pairs, 70 MZ twins without a co-twin, and 88 DZ twins without a co-twin]. The participants performed three online music tests requiring the detection of pitch changes in a two-melody comparison task (Scale) and key and rhythm incongruities in single-melody perception tasks (Out-of-key, Off-beat). The results showed predominantly additive genetic effects in the Scale task (58 %, 95 % CI 42-70 %), shared environmental effects in the Out-of-key task (61 %, 49-70 %), and non-shared environmental effects in the Off-beat task (82 %, 61-100 %). This highly different pattern of effects suggests that the contribution of genetic and environmental factors on music perception depends on the degree to which it calls for acquired knowledge of musical tonal and metric structures. PMID:26650514

  16. Ecosensitivity and genetic polymorphism of somatic traits in the perinatal development of twins.

    PubMed

    Waszak, Małgorzata; Cieślik, Krystyna; Skrzypczak-Zielińska, Marzena; Szalata, Marlena; Wielgus, Karolina; Kempiak, Joanna; Bręborowicz, Grzegorz; Słomski, Ryszard

    2016-04-01

    In view of criticism regarding the usefulness of heritability coefficients, the aim of this study was to analyze separately the information on genetic and environmental variability. Such an approach, based on the normalization of trait's variability for its value, is determined by the coefficients of genetic polymorphism (Pg) and ecosensitivity (De). The studied material included 1263 twin pairs of both sexes (among them 424 pairs of monozygotic twins and 839 pairs of dizygotic twins) born between the 22nd and 41st week of gestation. Variability of six somatic traits was analyzed. The zygosity of same-sex twins was determined based on the polymorphism of DNA from lymphocytes of the umbilical cord blood, obtained at birth. The coefficients of genetic polymorphism and ecosensitivity for analyzed traits of male and female twins born at various months of gestation were calculated. Our study revealed that a contribution of the genetic component predominated over that of the environmental component in determining the phenotypic variability of somatic traits of newborns from twin pregnancies. The genetically determined phenotypic variability in male twins was greater than in the females. The genetic polymorphism and ecosensitivity of somatic traits were relatively stable during the period of fetal ontogeny analyzed in this study. Only in the case of body weight, a slight increase in the genetic contribution of polygenes to the phenotypic variance could be observed with gestational age, along with a slight decrease in the influence of environmental factors. PMID:26619791

  17. Halogravity traction in the preoperative treatment of scoliosis in twins with Marfan syndrome.

    PubMed

    Cimic, Mislav; Crnogaca, Kresimir; Vrdoljak, Ozren; Bicanic, Goran

    2015-01-01

    We report on the influence of the duration of halogravity traction for achieving curve correction in monozygotic twins with Marfan syndrome who underwent posterior spinal fusion. Review of the medical charts and standard radiograph analysis of twin girls treated at our department was performed. Halogravity traction with a four-pin skull construct was applied for 3 weeks in twin A and for 2 weeks in twin B with a maximum of 20% body weight used. Both were on a 24-hours-day halogravity traction regime. Achieved thoracic curve correction after halogravity traction was 31% in twin A and 18% in twin B. Although less curve correction after traction was achieved in twin B, this had no significant implications on final postoperative curve correction. Halogravity traction can be a useful tool in the preoperative treatment of scoliosis in patients with Marfan syndrome if applied for 3 weeks. In order to avoid complications, we propose that lower weights be used with a starting weight of 1.5 kg increased by 1 kg daily until 20% body weight is reached. PMID:26032703

  18. Healthy co-twins of patients with affective disorders show reduced risk-related activation of the insula during a monetary gambling task

    PubMed Central

    Macoveanu, Julian; Miskowiak, Kamilla; Kessing, Lars Vedel; Vinberg, Maj; Siebner, Hartwig Roman

    2016-01-01

    Background Healthy first-degree relatives of patients with affective disorders are at increased risk for affective disorders and express discrete structural and functional abnormalities in the brain reward system. However, value-based decision making is not well understood in these at-risk individuals. Methods We investigated healthy monozygotic and dizygotic twins with or without a co-twin history of affective disorders (high-risk and low-risk groups, respectively) using functional MRI during a gambling task. We assessed group differences in activity related to gambling risk over the entire brain. Results We included 30 monozygotic and 37 dizygotic twins in our analysis. Neural activity in the anterior insula and ventral striatum increased linearly with the amount of gambling risk in the entire cohort. Individual neuroticism scores were positively correlated with the neural response in the ventral striatum to increasing gambling risk and negatively correlated with individual risk-taking behaviour. Compared with low-risk twins, the high-risk twins showed a bilateral reduction of risk-related activity in the middle insula extending into the temporal cortex with increasing gambling risk. Post hoc analyses revealed that this effect was strongest in dizygotic twins. Limitations The relatively old average age of the mono- and dizygotic twin cohort (49.2 yr) may indicate an increased resilience to affective disorders. The size of the monozygotic high-risk group was relatively small (n = 13). Conclusion The reduced processing of risk magnitude in the middle insula may indicate a deficient integration of exteroceptive information related to risk-related cues with interoceptive states in individuals at familial risk for affective disorders. Impaired risk processing might contribute to increased vulnerability to affective disorders. PMID:26395812

  19. Posttraumatic Stress Disorder and Incidence of Coronary Heart Disease: A Twin Study

    PubMed Central

    Vaccarino, Viola; Goldberg, Jack; Rooks, Cherie; Shah, Amit J.; Veledar, Emir; Faber, Tracy L.; Votaw, John R.; Forsberg, Christopher W.; Bremner, J. Douglas

    2013-01-01

    Objectives To determine whether posttraumatic stress disorder (PTSD) is associated with coronary heart disease (CHD) using a prospective twin study design and objective measures of CHD. Background It has long been hypothesized that PTSD increases the risk of CHD but empirical evidence using objective measures is limited. Methods We conducted a prospective study of middle-aged male twins from the Vietnam Era Twin Registry. Among twin pairs without self-reported CHD at baseline, we selected pairs discordant for a lifetime history of PTSD, pairs discordant for a lifetime history of major depression, and pairs without either condition. All underwent a clinic visit after a median follow-up of 13 years. Outcomes included clinical events (myocardial infarction, other hospitalizations for CHD and coronary revascularization) and quantitative measures of myocardial perfusion by [N13] positron emission tomography, including a stress total severity score (STSS) and coronary flow reserve (CFR). Results A total of 562 twins (281 pairs) were included with mean age of 42.6 yrs at baseline. The incidence of CHD was more than double in twins with PTSD (22.6%) than those without PTSD (8.9%; p<0.001). The association remained robust after adjusting for lifestyle factors, other CHD risk factors and major depression (OR=2.2, 95% confidence interval, 1.2-4.1). STSS was significantly higher (+ 95%, p=0.001) and CFR lower (−0.21, p=0.02) in twins with PTSD than those without, denoting worse myocardial perfusion. Associations were only mildly attenuated within 117 twin pairs discordant for PTSD. Conclusions Among Vietnam era veterans, PTSD is a risk factor for CHD. PMID:23810885

  20. Marital Conflict and Conduct Problems in Children of Twins

    PubMed Central

    Harden, K. Paige; Turkheimer, Eric; Emery, Robert E.; D’Onofrio, Brian M.; Slutske, Wendy S.; Heath, Andrew C.; Martin, Nicholas G.

    2010-01-01

    The Children-of-Twins design was used to test whether associations between marital conflict frequency and conduct problems can be replicated within the children of discordant twin pairs. A sample of 2,051 children (age 14–39 years) of 1,045 twins was used to estimate the genetic and environmental influences on marital conflict and determine whether genetic or environmental selection processes underlie the observed association between marital conflict and conduct problems. Results indicate that genetic and nonshared environmental factors influence the risk of marital conflict. Furthermore, genetic influences mediated the association between marital conflict frequency and conduct problems. These results highlight the need for quasiexperimental designs in investigations of intergenerational associations. PMID:17328690

  1. The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits.

    PubMed

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire M A; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos C E M; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild I A; Kaprio, Jaakko

    2015-08-01

    For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes. PMID:26014041

  2. The CODAtwins project: the cohort description of COllaborative project of Development of Anthropometrical measures in Twins to study macro-environmental variation in genetic and environmental effects on anthropometric traits

    PubMed Central

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire MA; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik KE; Pedersen, Nancy L; Dahl-Aslan, Anna K; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos CEM; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild IA; Kaprio, Jaakko

    2015-01-01

    For over one hundred years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically 1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and 2) to study the effects of birth related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects including both monozygotic and dizygotic twins using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes. PMID:26014041

  3. Intraventricular twin fetuses in fetu.

    PubMed

    Huddle, Lauren N; Fuller, Christine; Powell, Tiffany; Hiemenga, Judith A; Yan, Jia; Deuell, Brian; Lyders, Eric M; Bodurtha, Joann N; Papenhausen, Peter R; Jackson-Cook, Colleen K; Pandya, Arti; Jaworski, Margie; Tye, Gary W; Ritter, Ann M

    2012-01-01

    The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-term female neonate who presented with ventriculomegaly. A CT scan showed intracranial calcifications that were suggestive of an axial skeleton. Her birth weight was 3.176 kg (50th-75th percentile), length was 52 cm (90th percentile), head circumference was 35 cm (50th-75th percentile), and Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Prenatal ultrasonography studies performed at 12 weeks and 5 days, and 19 weeks and 6 days revealed normal findings. A 37-week prenatal ultrasonography study showed ventriculomegaly and obstructive hydrocephalus, with a possible intracranial teratoma. Cranial imaging at birth with ultrasonography, CT and MR imaging, and MR angiography demonstrated 2 complex intraventricular masses with cystic, solid, and bony elements. A craniotomy with resection of the masses was performed at 3 months of age. The infant survived and is now 12 months old with some developmental progress. Two axial skeletons, with accompanying rib cage and extremities, including well-formed feet and toes, were noted. Both anencephalic structures had skin with hair, fat, skeletal and smooth muscle, and bony structures with bone marrow and focal areas of calcification. Multiple viscera were present and included thymus, bowel, stomach, salivary gland, kidney, adrenal gland, lung, and presumed adnexal structures. A diagnosis of fetuses in fetu was rendered. Chromosomal studies of the child and tissue from the 2 fetuses in fetu showed normal female karyotypes. A single nucleotide polymorphism array analysis from the proband infant and tissue from the 2 identified fetuses in fetu appeared to be genetically identical. These results are consistent with a monozygotic twin embryonic origin of the fetus in fetu tissue

  4. Association Between Ideal Cardiovascular Health and Carotid Intima‐Media Thickness: A Twin Study

    PubMed Central

    Kulshreshtha, Ambar; Goyal, Abhinav; Veledar, Emir; McClellan, William; Judd, Suzanne; Eufinger, Silvia C.; Bremner, J. Douglas; Goldberg, Jack; Vaccarino, Viola

    2014-01-01

    Background The American Heart Association (AHA) recently developed the Cardiovascular Health Index (CVHI), a health metric consisting of 7 modifiable risk factors. The relationship of the CVHI with preclinical markers, such as carotid intima‐media thickness (CIMT) has not been assessed. Methods We examined 490 male monozygotic and dizygotic twins without overt cardiovascular disease. CIMT was measured using B‐mode ultrasonography. Each of the 7 CVHI components (blood pressure, fasting glucose, total cholesterol, body mass index, physical activity, healthy diet, and smoking) was given a point score of 0, 1, or 2 to represent poor, intermediate, or ideal health, respectively. A CVHI summation score was computed (range 0 to 14) and categorized as inadequate (0 to 4), average (5 to 9), or optimum (10 to 14) cardiovascular health. Mixed‐model regression was used to examine the association of the CVHI with CIMT. Results The mean age of the twins was 55.4 years, and 61% were monozygotic. The mean CIMT was 0.75 (±0.11) mm and the mean CVHI score was 7.7 (±2.1). There was an inverse correlation between CVHI and CIMT (Spearman r=−0.22, P<0.01). For every 5‐unit increase in overall CVHI score (indicating better cardiovascular health category), CIMT decreased by 0.045 mm (P<0.001) after adjusting for demographic variables and other confounders. Within monozygotic twin pairs, a 5‐unit increment in CVHI score was associated with a 0.05 mm lower CIMT (P<0.001). Conclusions The CVHI is independently associated with CIMT and the association is not confounded by shared genetic and other familial factors. PMID:24385450

  5. Deformation twins in Hornblende

    USGS Publications Warehouse

    Rooney, T.P.; Riecker, R.E.; Ross, M.

    1970-01-01

    Hornblende deformation twins with twin planes parallel to (101) are produced experimentally in single crystals by compression parallel to the c axis. Twinning occurs at confining pressures from 5 to 15 kilobars and temperatures from 400?? to 600??C (strain rate, 10-5 per second).

  6. High angular resolution diffusion imaging in a child with autism spectrum disorder and comparison with his unaffected identical twin.

    PubMed

    Conti, Eugenia; Pannek, Kerstin; Calderoni, Sara; Gaglianese, Anna; Fiori, Simona; Brovedani, Paola; Scelfo, Danilo; Rose, Stephen; Tosetti, Michela; Cioni, Giovanni; Guzzetta, Andrea

    2015-01-01

    In recent years, the use of brain diffusion MRI has led to the hypothesis that children with autism spectrum disorder (ASD) show abnormally connected brains. We used the model of disease-discordant identical twins to test the hypothesis that higher-order diffusion MRI protocols are able to detect abnormal connectivity in a single subject. We studied the structural connectivity of the brain of a child with ASD, and of that of his unaffected identical twin, using high angular resolution diffusion imaging (HARDI) probabilistic tractography. Cortical regions were automatically parcellated from high-resolution structural images, and HARDI-based connection matrices were produced for statistical comparison. Differences in diffusion indexes between subjects were tested by Wilcoxon signed rank test. Tracts were defined as discordant when they showed a between-subject difference of 10 percent or more. Around 11 percent of the discordant intra-hemispheric tracts showed lower fractional anisotropy (FA) values in the ASD twin, while only 1 percent showed higher values. This difference was significant. Our findings in a disease-discordant identical twin pair confirm previous literature consistently reporting lower FA values in children with ASD. PMID:26446271

  7. Sudden change of geometric quantum discord in finite temperature reservoirs

    SciTech Connect

    Hu, Ming-Liang Sun, Jian

    2015-03-15

    We investigate sudden change (SC) behaviors of the distance-based measures of geometric quantum discords (GQDs) for two non-interacting qubits subject to the two-sided and the one-sided thermal reservoirs. We found that the GQDs defined by different distances exhibit different SCs, and thus the SCs are the combined result of the chosen discord measure and the property of a state. We also found that the thermal reservoir may generate states having different orderings related to different GQDs. These inherent differences of the GQDs reveal that they are incompatible in characterizing quantum correlations both quantitatively and qualitatively. - Highlights: • Comparable study of different distance-based geometric quantum discords. • Evolution of the geometric quantum discords in finite temperature reservoirs. • Different geometric quantum discords exhibit distinct sudden changes. • Nonunique states ordering imposed by different geometric quantum discords.

  8. Quantum Discord as a Resource in Quantum Communication

    NASA Astrophysics Data System (ADS)

    Madhok, Vaibhav; Datta, Animesh

    2013-01-01

    As quantum technologies move from the issues of principle to those of practice, it is important to understand the limitations on attaining tangible quantum advantages. In the realm of quantum communication, quantum discord captures the damaging effects of a decoherent environment. This is a consequence of quantum discord quantifying the advantage of quantum coherence in quantum communication. This establishes quantum discord as a resource for quantum communication processes. We discuss this progress, which derives a quantitative relation between the yield of the fully quantum Slepian-Wolf (FQSW) protocol in the presence of noise and the quantum discord of the state involved. The significance of quantum discord in noisy versions of teleportation, super-dense coding, entanglement distillation and quantum state merging are discussed. These results lead to open questions regarding the tradeoff between quantum entanglement and discord in choosing the optimal quantum states for attaining palpable quantum advantages in noisy quantum protocols.

  9. Quantum Discord as a Resource in Quantum Communication

    NASA Astrophysics Data System (ADS)

    Madhok, Vaibhav; Datta, Animesh

    2012-06-01

    As quantum technologies move from the issues of principle to those of practice, it is important to understand the limitations on attaining tangible quantum advantages. In the realm of quantum communication, quantum discord captures the damaging effects of a decoherent environment. This is a consequence of quantum discord quantifying the advantage of quantum coherence in quantum communication. This establishes quantum discord as a resource for quantum communication processes. We discuss this progress, which derives a quantitative relation between the yield of the fully quantum Slepian-Wolf (FQSW) protocol in the presence of noise and the quantum discord of the state involved. The significance of quantum discord in noisy versions of teleportation, super-dense coding, entanglement distillation and quantum state merging are discussed. These results lead to open questions regarding the tradeoff between quantum entanglement and discord in choosing the optimal quantum states for attaining palpable quantum advantages in noisy quantum protocols.

  10. Diversity of Gut Microbiota Metabolic Pathways in 10 Pairs of Chinese Infant Twins.

    PubMed

    Zhou, Shaoming; Xu, Ruihuan; He, Fusheng; Zhou, Jiaxiu; Wang, Yan; Zhou, Jianli; Wang, Mingbang; Zhou, Wenhao

    2016-01-01

    Early colonization of gut microbiota in human gut is a complex process. It remains unclear when gut microbiota colonization occurs and how it proceeds. In order to study gut microbiota composition in human early life, the present study recruited 10 healthy pairs of twins, including five monozygotic (MZ) and five dizygotic (DZ) twin pairs, whose age ranged from 0 to 6 years old. 20 fecal samples from these twins were processed by shotgun metagenomic sequencing, and their averaged data outputs were generated as 2G per sample. We used MEGAN5 to perform taxonomic and functional annotation of the metagenomic data, and systematically analyzed those 20 samples, including Jaccard index similarity, principle component, clustering, and correlation analyses. Our findings indicated that within our study group: 1) MZ-twins share more microbes than DZ twins or non-twin pairs, 2) gut microbiota distribution is relatively stable at metabolic pathways level, 3) age represents the strongest factor that can account for variation in gut microbiota, and 4) a clear metabolic pathway shift can be observed, which speculatively occurs around the age of 1 year old. This research will serve as a base for future studies of gut microbiota-related disease research. PMID:27583441

  11. A Comparison of Disease Burden Between Twins and Control Pairs in Medicare: Quantification of Heredity's Role in Human Health.

    PubMed

    Sorace, James; Rogers, Michael; Millman, Michael; Rogers, Daniel; Price, Kyle; Queen, Susan; Worrall, Chris; Kelman, Jeffrey

    2015-10-01

    To quantify heredity's effects on the burden of illness in the Medicare population, this study linked information between participants in a research twin registry to a comprehensive set of Medicare claims. To calculate disease categories, the authors used the Centers for Medicare & Medicaid Services Hierarchical Conditions Categories (HCC) model that was developed to risk adjust Medicare's capitation payments to private health care plans based on the health expenditure risk of their enrollees. Using the Medicare database, 2 sets of unrelated but demographically matched control pairs (MCPs) were generated, one specific for the monozygotic twin population and the second specific for the dizygotic twin population. The concordance and correlation rates of the 70 HCC categories for the 2 twin populations, in comparison to their corresponding MCP, was then calculated using Medicare claims data from 1991 through 2011. When indicated, HCCs for which there was a statistically significant difference between the twin and corresponding MCP control group were analyzed by calculating concordance and correlation rates of the International Classification of Diseases, Ninth Revision codes that compose the HCC. Findings reveal that monozygotic twins share 6.5% more HCC disease categories than their MCP while dizygotic twins share 3.8% more HCC disease categories than their MCP. Atrial fibrillation is a highly heritable disease category, a finding consistent with prior literature describing the heritability of the cardiac arrhythmias. These findings are consistent with qualitative assessments of heredity's role found in previous models of population health, and provide both novel methods and quantitative evidence to support future model development. PMID:25658666

  12. Relating quantum discord with the quantum dense coding capacity

    SciTech Connect

    Wang, Xin; Qiu, Liang Li, Song; Zhang, Chi; Ye, Bin

    2015-01-15

    We establish the relations between quantum discord and the quantum dense coding capacity in (n + 1)-particle quantum states. A necessary condition for the vanishing discord monogamy score is given. We also find that the loss of quantum dense coding capacity due to decoherence is bounded below by the sum of quantum discord. When these results are restricted to three-particle quantum states, some complementarity relations are obtained.

  13. Discord as a quantum resource for bi-partite communication

    NASA Astrophysics Data System (ADS)

    Chrzanowski, Helen M.; Gu, Mile; Assad, Syed M.; Symul, Thomas; Modi, Kavan; Ralph, Timothy C.; Vedral, Vlatko; Lam, Ping Koy

    2014-12-01

    Coherent interactions that generate negligible entanglement can still exhibit unique quantum behaviour. This observation has motivated a search beyond entanglement for a complete description of all quantum correlations. Quantum discord is a promising candidate. Here, we experimentally demonstrate that under certain measurement constraints, discord between bipartite systems can be consumed to encode information that can only be accessed by coherent quantum interactions. The inability to access this information by any other means allows us to use discord to directly quantify this `quantum advantage'.

  14. Relating quantum discord with the quantum dense coding capacity

    NASA Astrophysics Data System (ADS)

    Wang, Xin; Qiu, Liang; Li, Song; Zhang, Chi; Ye, Bin

    2015-01-01

    We establish the relations between quantum discord and the quantum dense coding capacity in ( n + 1)-particle quantum states. A necessary condition for the vanishing discord monogamy score is given. We also find that the loss of quantum dense coding capacity due to decoherence is bounded below by the sum of quantum discord. When these results are restricted to three-particle quantum states, some complementarity relations are obtained.

  15. Solvent Exposures and Parkinson’s Disease Risk in Twins

    PubMed Central

    Goldman, Samuel M; Quinlan, Patricia J; Ross, G Webster; Marras, Connie; Meng, Cheryl; Bhudhikanok, Grace S; Comyns, Kathleen; Korell, Monica; Chade, Anabel R; Kasten, Meike; Priestley, Benjamin; Chou, Kelvin L; Fernandez, Hubert H; Cambi, Franca; Langston, J William; Tanner, Caroline M

    2011-01-01

    Objective Several case reports have linked solvent exposure to Parkinson’s disease (PD), but few studies have assessed associations with specific agents using an analytic epidemiologic design. We tested the hypothesis that exposure to specific solvents is associated with PD risk using a discordant twin pair design. Methods 99 twin pairs discordant for PD ascertained from the National Academy of Science/National Research Council (NAS/NRC) World War II Veteran Twins Cohort were interviewed regarding lifetime occupations and hobbies using detailed job-task-specific questionnaires. Exposures to 6 specific solvents selected a priori were estimated by expert raters unaware of case status. Results Ever exposure to trichloroethylene (TCE) was associated with significantly increased risk of PD (OR 6.1, 95%CI 1.2 – 33; p = 0.034), and exposure to perchloroethylene (PERC) and carbon tetrachloride (CCl4) tended toward significance (respectively: OR 10.5, 95%CI 0.97-113, p = 0.053; OR 2.3, 95%CI 0.9-6.1, p = 0.088). Results were similar for estimates of exposure duration and cumulative lifetime exposure. Interpretation Exposure to specific solvents may increase risk of PD. TCE is the most common organic contaminant in groundwater, and PERC and CCl4 are also ubiquitous in the environment. Our findings require replication in other populations with well-characterized exposures, but the potential public health implications are substantial. PMID:22083847

  16. Clinical factors affecting the timing of delivery in twin pregnancies

    PubMed Central

    Lee, Chae Min; Yang, Sun Hye; Lee, Sun Pyo; Hwang, Byung Chul

    2014-01-01

    Objective To investigate clinical factors affecting the timing of delivery in twin pregnancies in order to minimize perinatal complications. Methods A retrospective study involved 163 twin pregnancies delivered from January 2006 to September 2011 at Gachon University Gil Medical Center. These cases were divided into three groups based on the delivery timing: less than 32 weeks' gestation (group A), between 32 and 35+6 weeks' gestation (group B), and over 36 weeks' gestation (group C). Clinical factors including maternal age, parity, presence of premature uterine contraction, presence of premature rupture of membrane, white blood cell, high sensitive C-reactive protein level, cervical dilatation, maternal complication, chorionicity, twin specific complication, and perinatal complication were analyzed for each group. Results In group B, the timing of delivery was postponed for 14 days or more from the time of admission, and there were fewer numbers of babies with low Apgar score at birth compared with other groups. The frequency of uterine contraction (P<0.001), presence of premature rupture of membranes (P=0.017), dilatation of cervix (P<0.001), increased white blood cell and high sensitive C-reactive protein levels (P=0.002, P<0.001) were important clinical factors during decision making process of delivery timing in twin pregnancies. Twin specific fetal conditions, such as twin-twin transfusion syndrome and discordant growth (over 25% or more) were shown more frequently in group A. However, there were no significant statistical differences among three groups (P=0.06, P=0.14). Conclusion Proper management for preventing premature contraction and inflammation can be essential in twin pregnancies until 32 weeks' gestation, and may decrease maternal and perinatal complications. PMID:25469330

  17. Asymmetric twin Dark Matter

    SciTech Connect

    Farina, Marco

    2015-11-09

    We study a natural implementation of Asymmetric Dark Matter in Twin Higgs models. The mirroring of the Standard Model strong sector suggests that a twin baryon with mass around 5 GeV is a natural Dark Matter candidate once a twin baryon number asymmetry comparable to the SM asymmetry is generated. We explore twin baryon Dark Matter in two different scenarios, one with minimal content in the twin sector and one with a complete copy of the SM, including a light twin photon. The essential requirements for successful thermal history are presented, and in doing so we address some of the cosmological issues common to many Twin Higgs models. The required interactions we introduce predict signatures at direct detection experiments and at the LHC.

  18. Merohedral twins revisited: quinary twins and beyond.

    PubMed

    Quiquandon, Marianne; Gratias, Denis; Sirindil, Abdullah; Portier, Richard

    2016-01-01

    A twin is defined as being an external operation between two identical crystals that share a fraction of the atomic structure with no discontinuity from one crystal to the other. This includes merohedral twins, twins by reticular merohedry as well as coherent twins by contact where only the habit plane is shared by the two adjacent crystals (epitaxy). Interesting and original cases appear when the invariant substructure is built with positions belonging to the same {\\bb Z}-module as, for example, the quinary twin structure first drawn by Albrecht Dürer [(1525). The Painter's Manual: a Manual of Measurement of Lines, Areas and Solids by Means of Compass and Ruler. Facsimile Edition (1977), translated with commentary by W. L. Strauss. New York: Abaris Books]. This paper will show that the Dürer twins, once defined in five-dimensional space, are simple merohedral twins, in the sense of Georges Friedel, leaving the five-dimensional lattice invariant. This analysis will be generalized to some other higher-order {\\bb Z}-modules. PMID:26697867

  19. A Lower Bound of Quantum Discord for 2-Qutrit Systems

    NASA Astrophysics Data System (ADS)

    Zhang, Qianhui; Wang, Jing; Shen, Shuqian; Li, Ming

    2016-04-01

    We study the lower bound of quantum discord for 2-qutrit systems. By computing the mutual information and the classical correlations of a class of states for 2-qutrit system, an analytical and computable lower bound of discord has been derived. By selecting different coefficients as examples, we can compute the lower bound of discord for 2-qutrit systems directly. The result can be generalized to the case of high-dimensional quantum state and will help us understand and explore the discord of the high-dimensional state.

  20. Geometry and dynamics of one-norm geometric quantum discord

    NASA Astrophysics Data System (ADS)

    Huang, Zhiming; Qiu, Daowen; Mateus, Paulo

    2016-01-01

    We investigate the geometry of one-norm geometric quantum discord and present a geometric interpretation of one-norm geometric quantum discord for a class of two-qubit states. It is found that one-norm geometric quantum discord has geometric behavior different from that described in Lang and Caves (Phys Rev Lett 105:150501, 2010), Li et al. (Phys Rev A 83:022321, 2011) and Yao et al. (Phys Lett A 376:358-364, 2012). We also compare the dynamics of the one-norm geometric quantum discord and other measures of quantum correlations under correlated noise. It is shown that different decoherent channels bring different influences to quantum correlations measured by concurrence, entropic quantum discord and geometric quantum discord, which depend on the memory parameter and decoherence parameter. We lay emphasis on the behaviors such as entanglement sudden death and sudden transition of quantum discord. Finally, we study the dynamical behavior of one-norm geometric quantum discord in one-dimensional anisotropic XXZ model by utilizing the quantum renormalization group method. It is shown that the one-norm geometric quantum discord demonstrates quantum phase transition through renormalization group approach.

  1. Effects of Smoking on Coronary Microcirculatory Function: A Twin Study

    PubMed Central

    Rooks, Cherie; Faber, Tracy; Votaw, John; Veledar, Emir; Goldberg, Jack; Raggi, Paolo; Quyyumi, Arshed A.; Bremner, J. Douglas; Vaccarino, Viola

    2011-01-01

    Background In asymptomatic smokers, coronary microcirculatory dysfunction, assessed by coronary flow reserve (CFR), is an early indicator of cardiovascular risk. Inflammation and oxidative stress may be the mechanisms through which smoking affects the microvasculature. Objectives The purpose of this study was to determine the relationship between smoking and CFR, taking into account potential shared genetic effects. Methods We examined 360 male middle aged twins (288 non-smokers and 72 smokers), including 46 twin pairs discordant for current smoking. Coronary flow reserve (CFR) in response to adenosine was measured with positron emission tomography [N13] ammonia and quantitation of coronary blood flow at rest and after adenosine stress. Inflammation was assessed by measuring interleukin-6 and C-reactive protein, and oxidative stress was determined by measuring plasma hydroperoxides, glutathione (GSH), the oxidized form of GSH, GSSG, and the ratio of GSH to GSSG. Results CFR was significantly lower in smokers compared to nonsmokers (2.25 vs. 2.75, p<0.01). This relationship persisted after accounting for known cardiovascular disease risk factors, and was marginally affected by adjusting for inflammatory and oxidative stress biomarkers. In addition, in smoking-discordant twin pairs, CFR in the smoking twin was significantly lower than in the non-smoking co-twin (2.25 vs. 2.67, p = 0.03) even after adjustment for cardiovascular risk factors. Conclusions Our results demonstrate the adverse effects of smoking in the early phases of cardiovascular disease. Mechanisms other than peripherally-measured inflammation and oxidative stress are involved. PMID:21315354

  2. Bruxism Is Associated With Nicotine Dependence: A Nationwide Finnish Twin Cohort Study

    PubMed Central

    Ahlberg, J.; Hublin, C.; Broms, U.; Madden, P. A. F.; Könönen, M.; Koskenvuo, M.; Lobbezoo, F.; Kaprio, J.

    2010-01-01

    Objectives: To investigate the association of smoking with bruxism while controlling for genetic and environmental factors using a co-twin-control design. Especially, the role of nicotine dependence was studied in this context. Methods: The material derives from the Finnish Twin Cohort consisting of 12,502 twin individuals who responded to a questionnaire in 1990 (response rate of 77%). All were born in 1930–1957, the mean age being 44 years. The questionnaire covered 103 multiple choice questions, 7 dealing with tobacco use and 22 with sleep and vigilance matters, including perceived bruxism. In addition, a subsample derived from the Nicotine Addiction Genetics Finland Study containing 445 twin individuals was studied. Results: In age- and gender-controlled multinomial logistic regression, both monthly and rarely reported bruxism associated with both current cigarette smoking (odds ratio [OR] = 1.74 and 1.64) and former cigarette smoking (OR = 1.64 and 1.47). Weekly bruxism associated with current smoking (OR = 2.85). Current smokers smoking 20 or more cigarettes a day reported weekly bruxism more likely (OR = 1.61–1.97) than those smoking less. Among twin pairs (N = 142) in which one twin was a weekly bruxer and the cotwin a never bruxer, there were 13 monozygotic pairs in which one twin was a current smoker and the other twin was not. In all cases, the bruxer was the smoker (p = .0003). Nicotine dependence associated significantly with bruxism. Conclusions: Our twin study provides novel evidence for a possible causal link between tobacco use and bruxism among middle-aged adults. Nicotine dependence may be a significant predisposing factor for bruxism. PMID:21041838

  3. Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age: A Study of the CODATwins Project.

    PubMed

    Jelenkovic, Aline; Yokoyama, Yoshie; Sund, Reijo; Honda, Chika; Bogl, Leonie H; Aaltonen, Sari; Ji, Fuling; Ning, Feng; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Tarnoki, Adam D; Tarnoki, David L; Haworth, Claire M A; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Kim, Bia; Chong, Youngsook; Hong, Changhee; Shin, Hyun Jung; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos C E M; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Boomsma, Dorret I; Sørensen, Thorkild I A; Kaprio, Jaakko; Silventoinen, Karri

    2015-10-01

    A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes. PMID:26337138

  4. Developmental genes targeted for epigenetic variation between twin-twin transfusion syndrome children

    PubMed Central

    2013-01-01

    Background Epigenetic mechanisms are thought to be critical in mediating the role of the intrauterine environment on lifelong health and disease. Twin-twin transfusion syndrome (TTTS) is a rare condition wherein fetuses share the placenta and develop vascular anastomoses, which allow blood to flow between the fetuses. The unequal flow results in reciprocal hypo- and hypervolemia in the affected twins, striking growth differences and physiologic adaptations in response to this significant stressor. The donor twin in the TTTS syndrome can be profoundly growth restricted and there is likely a nutritional imbalance between the twins. The consequences of TTTS on fetal programming are unknown. This condition can now be effectively treated through the use of fetal laparoscopic procedures, but the potential for lifelong morbidity related to this condition during development is apparent. As this condition and the resulting uteroplacental discordance can play a role in the epigenetic process, we sought to investigate the DNA methylation profiles of childhood survivors of TTTS (n = 14). We focused on differences in both global measures and genome-wide CpG specific DNA methylation between donor and recipient children in this pilot study in order to generate hypotheses for further research. Results We identified significant hypomethylation of the LINE1 repetitive element in the peripheral blood of donor children and subtle variation in the genome-wide profiles of CpG specific methylation most prominent at CpG sites which are targets for polycomb group repressive complexes. Conclusions These preliminary results suggest that coordinated epigenetic alterations result from the intrauterine environment experienced by infants with TTTS and may, at least in part, be responsible for downstream health conditions experienced by individuals surviving this condition. PMID:24090360

  5. Twin-to-twin transfusion syndrome

    MedlinePlus Videos and Cool Tools

    ... multiples that share a single placenta containing blood vessels going from one baby to the other. Blood ... transferred to the larger "recipient" twin through interconnecting vessels causing an unequal exchange of blood. The recipient ...

  6. A Chaotic Home Environment Accounts for the Association between Respect for Rules Disposition and Reading Comprehension: A Twin Study.

    PubMed

    Taylor, Jeanette; Hart, Sara A

    2014-10-01

    This study examined the association between socioemotional dispositions from the developmental propensity model and reading comprehension and whether those associations could be accounted for by level of chaos in the home. Data from 342 monozygotic and 333 same-sex dizygotic twin pairs age 7-13 years were used. A parent rated the twins on sympathy, respect for rules, negative emotionality, and daring and level of chaos in the twins' home. Reading comprehension was measured using a state-wide school assessment. Only respect for rules significantly and uniquely predicted reading comprehension. Biometric models indicated that respect for rules was positively associated with reading comprehension via the shared environment and home chaos accounted for a significant amount of that shared environmental variance even after controlling for family income. Children with higher respect for rules have better reading comprehension scores in school and this relationship owes partly to the level of chaos in the family home. PMID:25328362

  7. Multiple regression analysis of reading performance data from twin pairs with reading difficulties and nontwin siblings: the augmented model.

    PubMed

    Wadsworth, Sally J; Olson, Richard K; Willcutt, Erik G; DeFries, John C

    2012-02-01

    The augmented multiple regression model for the analysis of data from selected twin pairs was extended to facilitate analyses of data from twin pairs and nontwin siblings. Fitting this extended model to data from both selected twin pairs and siblings yields direct estimates of heritability (h2) and the difference between environmental influences shared by members of twin pairs and those of sib or twin-sib pairs (i.e., c2(t) - c2 (s)). When this model was fitted to reading performance data from 293 monozygotic and 436 dizygotic pairs selected for reading difficulties, and 291 of their nontwin siblings, h2 = .48 ± .22, p = .03, and c2 (t) - c2 (s) = .22 ± .12, p = .06. Although the test for differential shared environmental influences is only marginally significant, the results of this analysis suggest that environmental influences on reading performance that are shared by members of twin pairs (.36) may be substantially greater than those for less contemporaneous twin-sibling pairs (.14). PMID:22784461

  8. Sources of gene tree discordance on oryza (poaceae) chromosome 3

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We describe new methods for characterizing gene tree discordance in phylogenomic datasets, which screen for deviations from neutral expectations, summarize variation in statistical support among gene trees, and allow comparison of the patterns of discordance induced by various analysis choices. Usin...

  9. Exploring Knowing/Being through Discordant Professional Practice

    ERIC Educational Resources Information Center

    Dall'Alba, Gloria; Barnacle, Robyn

    2015-01-01

    Despite an increasing array of "quality indicators" and substantial investments in educating professionals, there continues to be clear evidence of discordant, or even negligent, practice by accredited professionals. We refer to discordant professional practice as being "out of tune" with what is accepted as good practice. In a…

  10. Oxygen isotopic composition and U-Pb discordance in zircon

    USGS Publications Warehouse

    Booth, A.L.; Kolodny, Y.; Chamberlain, C.P.; McWilliams, M.; Schmitt, A.K.; Wooden, J.

    2005-01-01

    We have investigated U-Pb discordance and oxygen isotopic composition of zircon using high-spatial resolution ??18O measurement by ion microprobe. ??18O in both concordant and discordant zircon grains provides an indication of the relationship between fluid interaction and discordance. Our results suggest that three characteristics of zircon are interrelated: (1) U-Pb systematics and concomitant age discordance, (2) ??18O and the water-rock interactions implied therein, and (3) zircon texture, as revealed by cathodoluminescence and BSE imaging. A key observation is that U-Pb-disturbed zircons are often also variably depleted in 18O, but the relationship between discordance and ??18O is not systematic. ??18O values of discordant zircons are generally lighter but irregular in their distribution. Textural differences between zircon grains can be correlated with both U-Pb discordance and ??18O. Discordant grains exhibit either a recrystallized, fractured, or strongly zoned CL texture, and are characteristic of 18O depletion. We interpret this to be a result of metamictization, leading to destruction of the zircon lattice and an increased susceptibility to lead loss. Conversely, grains that are concordant have less-expressed zoning and a smoother CL texture and are enriched in 18O. From this it is apparent that various stages of water-rock interaction, as evidenced by systematic variations in ??18O, leave their imprint on both the texture and U-Pb systematics of zircon. Copyright ?? 2005 Elsevier Ltd.

  11. More physics twins

    NASA Astrophysics Data System (ADS)

    Shemilt, Jane; Hodge, Alison; White, Martin; Dewhurst, Samuel; Evans, Colin J.; Smith, Ron

    2008-02-01

    Your article about the two female physicists in Israel (pictured above) who are identical twins raised the question of whether any other such twins exist (January p3). My identical twin sister and I were both undergraduates at Imperial College, being in the first cohort of students to graduate in materials science in 1973. This was under our maiden names of Jane and Ruth Weston.

  12. Multipartite distribution property of one way discord beyond measurement

    NASA Astrophysics Data System (ADS)

    Liu, Si-Yuan; Zhang, Yu-Ran; Yang, Wen-Li; Fan, Heng

    2015-03-01

    We investigate the distribution property of one way discord in the multipartite system by introducing the concept of polygamy deficit for one way discord. The difference between one way discord and quantum discord is analogue to the one between entanglement of assistance and entanglement of formation. For tripartite pure states, two kinds of polygamy deficits are presented with the equivalent expressions and physical interpretations regardless of measurement. For four-partite pure states, we provide a condition which makes one way discord polygamy satisfied. In addition, we generalize these results to the case for N-partite pure states. Those results can be applicable to multipartite quantum systems and are complementary to our understanding of the shareability of quantum correlations.

  13. 'Too much of a coincidence': identical twins with exertional heatstroke in the same race.

    PubMed

    Smith, R; Jones, N; Martin, D; Kipps, C

    2016-01-01

    This report discusses a unique case of monozygotic male twins who both collapsed with exertional heat stroke (EHS) during the same marathon in relatively cool conditions. The twins were official race pacers in a popular city marathon held in the early spring in the UK. Both recovered uneventfully due to the prompt recognition of EHS and use of aggressive cooling measures, which prevented life-threatening complications. The case illustrates that EHS is a complex illness with a possible genetic predisposition, which can occur among runners even in cooler conditions. This link is explored together with the influence of their role as race pacers and the additional backpack worn in the development of EHS. PMID:26851253

  14. Trauma Exposure and Axis I Psychopathology: A Co-twin Control Analysis in Norwegian Young Adults

    PubMed Central

    Brown, Ruth C.; Berenz, Erin C.; Aggen, Steven H.; Gardner, Charles O.; Knudsen, Gun Peggy; Reichborn-Kjennerud, Ted; Kendler, Kenneth S.; Amstadter, Ananda B.

    2014-01-01

    Broad associations between trauma exposure (TE) and Axis I psychopathology have been noted in the literature. However, it is not clear if TE is directly associated with Axis I disorders or if the relationship is better accounted for by familial factors (i.e., early environment and/or genetic factors). The current investigation used the co-twin control method in a large sample of adult twin pairs from the Norwegian Twin Registry (N = 2,776), including 449 twin pairs discordant for DSM-IV Criterion A TE. History of TE and Axis I psychopathology was assessed using DSM-IV based clinical interview. Results suggested that TE was significantly associated with greater likelihood of meeting criteria for major depression, dysthymia, anxiety, substance abuse, eating disorders, and somatization disorder in the general population (odds ratios [OR] ranging from 1.33 to 2.21). Among twins discordant for TE, results suggested that TE may exert a direct influence on major depression, dysthymia, anxiety, substance abuse, eating disorders, and somatization disorder. Shared familial effects may also account for at least some of the relationship between TE and major depression. TE may play an important role in the development of a wide range of Axis I psychopathology above and beyond familial factors. Research and clinical implications are discussed. PMID:25544868

  15. Discordant and chameleon sequences: their distribution and implications for amyloidogenicity.

    PubMed

    Gendoo, Deena M A; Harrison, Paul M

    2011-03-01

    Identification of ambiguous encoding in protein secondary structure is paramount to develop an understanding of key protein segments underlying amyloid diseases. We investigate two types of structurally ambivalent peptides, which were hypothesized in the literature as indicators of amyloidogenic proteins: discordant α-helices and chameleon sequences. Chameleon sequences are peptides discovered experimentally in different secondary-structure types. Discordant α-helices are α-helical stretches with strong β-strand propensity or prediction. To assess the distribution of these features in known protein structures, and their potential role in amyloidogenesis, we analyzed the occurrence of discordant α-helices and chameleon sequences in nonredundant sets of protein domains (n = 4263) and amyloidogenic proteins extracted from the literature (n = 77). Discordant α-helices were identified if discordance was observed between known secondary structures and secondary-structure predictions from the GOR-IV and PSIPRED algorithms. Chameleon sequences were extracted by searching for identical sequence words in α-helices and β-strands. We defined frustrated chameleons and very frustrated chameleons based on varying degrees of total β propensity ≥α propensity. To our knowledge, this is the first study to discern statistical relationships between discordance, chameleons, and amyloidogenicity. We observed varying enrichment levels for some categories of discordant and chameleon sequences in amyloidogenic sequences. Chameleon sequences are also significantly enriched in proteins that have discordant helices, indicating a clear link between both phenomena. We identified the first set of discordant-chameleonic protein segments we predict may be involved in amyloidosis. We present a detailed analysis of discordant and chameleons segments in the family of one of the amyloidogenic proteins, the Prion Protein. PMID:21432934

  16. Morphological study of cephalothoracopagus deradelphus type conjoined twins. A case report.

    PubMed

    Cîrstoiu, Monica Mihaela; Filipoiu, Florin Mihail; Brătilă, Elvira; Berceanu, Costin; Cîrstoiu, Florin Cătălin; Budu, Vlad Andrei; Bulescu, Ioan Alexandru; Munteanu, Octavian

    2016-01-01

    Cephalopagus is a rare variety of conjoined twins. They are fused with their heads, thoracic and upper abdominal cavities. The exact mechanism for development of conjoined twins cannot be clearly explained. It appears that there is an alteration in the normal developmental process of monozygotic twins, which fail to separate from each other. We present the morphology of a cephalothoracopagus, revealed through anatomical dissection, emphasizing the arrangement of the viscera in the thoracic and abdominal cavities. They are fused with their heads, thoracic and upper abdominal cavities. The lower abdomen and pelvic cavities are free. Each twin has two upper and lower limbs, normally shaped. Each twin has a heart and two lungs. There is a single pharynx, esophagus and stomach, but normal lower abdominal systems. The genital and urinary systems are apparently normal. Due to the fusion of the heads and abnormal arrangement of the superior central nervous system, surgery is not attempted in these cases, the prognosis being very poor. PMID:27151716

  17. The association between hippocampal volume and life events in healthy twins.

    PubMed

    Bootsman, Florian; Kemner, Sanne M; Hillegers, Manon H J; Brouwer, Rachel M; Vonk, Ronald; van der Schot, Astrid C; Hulshoff Pol, Hilleke E; Nolen, Willem A; Kahn, René S; van Haren, Neeltje E M

    2016-08-01

    Hippocampal volume deficits have been linked to life stress. However, the degree to which genes and environment influence the association between hippocampal volume and life events is largely unknown. In total, 123 healthy twins from monozygotic and dizygotic twin pairs underwent magnetic resonance imaging (MRI), and 57 healthy twins were interviewed with the Life Events and Difficulties Schedule (LEDS), with an overlap of 54 twins undergoing both MRI and the life events interview. Hippocampal volumes were segmented with Freesurfer software. Data were analyzed with OpenMx software. Smaller hippocampal volume was associated with higher severe life event load (rph = -0.39), where shared environmental factors influencing both measures fully explained the association. Hippocampal volume was not associated with total or mild life event load. Hippocampal volume showed high heritability (range, h(2) : 57%-81%) whereas life event measures were influenced by shared (c(2) ) and unique (e(2) ) environmental factors only (range, c(2) :40%-64%, e(2) : 36%-60%). The results suggested that shared environmental factors influenced the relationship between smaller hippocampal volume and severe (but not mild) stress. This indicated that particularly severe life events that were shared between twins were associated with smaller hippocampal volume. Furthermore, it is suggested to distinguish between mild and severe life events in life event research. © 2016 Wiley Periodicals, Inc. PMID:27010665

  18. Genetic and Environmental Influences on the Mental Health of Children: A Twin Study.

    PubMed

    Yin, Ping; Hou, Xiao; Qin, Qing; Deng, Wei; Hu, Hua; Luo, Qinghua; Du, Lian; Qiu, Haitang; Qiu, Tian; Fu, Yixiao; Meng, Huaqing; Li, Tao

    2016-08-01

    The current study explored the influences of genetic and environmental factors on the mental health of twins between ages 6 and 16. A total of 41 monozygotic (MZ) twins and 35 dizygotic twins were recruited. The psychological attributes and environmental information of children were evaluated. A significant correlation was found between twins in the diagnostic categories of any psychiatric disorder and attention deficit/hyperactivity disorder (ADHD)/hyperkinesis based on the Strengths and Difficulties Questionnaire scale in MZ twins. Furthermore, fathers' authoritarian parenting style was positively correlated with the probability of any psychiatric disorders and oppositional/conduct disorders, whereas mothers' authoritative parenting style was negatively correlated with the probability of any psychiatric disorders and ADHD/hyperkinesis. The probability of emotional disorders was negatively correlated with scores on the Stressful Life Events Scale. These results collectively suggest that genetic and environmental elements, such as parental rearing style and stressful life events, may influence children's mental health. [Journal of Psychosocial Nursing and Mental Health Services, 54(8), 29-34.]. PMID:27479477

  19. Prevalence of and Familial Influences on Purging Disorder in a Community Sample of Female Twins

    PubMed Central

    Munn-Chernoff, Melissa A.; Keel, Pamela K.; Klump, Kelly L.; Grant, Julia D.; Bucholz, Kathleen K.; Madden, Pamela A. F.; Heath, Andrew C.; Duncan, Alexis E.

    2014-01-01

    Objective Purging Disorder (PD) was recently included as an Otherwise Specified Feeding or Eating Disorder (OSFED) in the DSM-5; however, limited information is available on its prevalence, and its etiology is unknown. Method Data from 1790 monozygotic and 1440 dizygotic European American female twins (age range = 18 – 29 years) from the Missouri Adolescent Female Twin Study were used to investigate prevalence and familial influences for PD. A structured clinical interview assessed lifetime DSM-IV criteria for eating disorders and PD. After adjustment for age, twin correlations and biometrical twin models were used to estimate familial (i.e., genetic plus shared environmental) influences on PD. Results One hundred and twenty one (3.77%; 95% CI: 3.14, 4.49) women met criteria for lifetime PD. Twin correlations suggested that genetic, shared environmental, and nonshared environmental factors influenced liability to PD. Nonshared environmental factors accounted for 56% [35%, 79%] of the variance in PD. Although familial effects accounted for a significant proportion of variance (44% [21%, 65%]), it was not possible to disentangle the independent contributions of additive genetic effects (20% [0%, 65%]) and shared environmental effects (24% [0%, 57%]). Discussion PD is a prevalent form of eating pathology. Familial factors are relevant to the development of PD but do not demonstrate the magnitude of heritable factors found for other eating disorders. PMID:25808399

  20. Foetus in foetu: serological assessment of monozygotic origin by automated analysis

    PubMed Central

    Boyce, M. J.; Lockyer, J. W.; Wood, C. B. S.

    1972-01-01

    A further example of the rare disorder of embryonic development known as `foetus in foetu' is described. Extensive blood group determinations, using a new autoanalytical technique, were combined with chromosome studies to show that the chance of the foetus in foetu and its host being of monozygotic origin was 0·947. Images PMID:4673613

  1. Long-Term Neurodevelopmental Outcome of Monochorionic and Matched Dichorionic Twins

    PubMed Central

    Hack, Karien E. A.; Koopman-Esseboom, Corine; Derks, Jan B.; Elias, Sjoerd G.; de Kleine, Martin J. K.; Baerts, Wim; Go, Attie T. J. I.; Schaap, Arty H. P.; van der Hoeven, Mark A. H. B. M.; Eggink, Alex J.; Sollie, Krystyna M.; Weisglas-Kuperus, Nynke; A.Visser, Gerard H.

    2009-01-01

    Background Monochorionic (MC) twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS) or intrauterine co-twin death) or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC) twins at the age of two years. Methods This was a prospective cohort study. Cerebral palsy (CP) was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (un)alikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner. Findings Four out of 182 MC infants had CP (2.2%) - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death) and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5–38.2) of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7%) had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0–1.4). Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its larger co-twin

  2. Body Mass Index and Depressive Symptoms: Testing for Adverse and Protective Associations in Two Twin Cohort Studies.

    PubMed

    Jokela, Markus; Berg, Venla; Silventoinen, Karri; Batty, G David; Singh-Manoux, Archana; Kaprio, Jaakko; Davey Smith, George; Kivimäki, Mika

    2016-08-01

    Studies have suggested both adverse and protective associations of obesity with depressive symptoms. We examined the contribution of environmental and heritable factors in this association. Participants were same-sex twin pairs from two population-based twin cohort studies, the Older Finnish Twin Cohort (n = 8,215; mean age = 44.1) and the US Midlife Development in the United States (MIDUS; n = 1,105; mean age = 45.1). Body mass index (BMI) was calculated from self-reported height and weight. Depressive symptoms were assessed using Beck's Depression Inventory (BDI; Finnish Twin Cohort), and by negative and positive affect scales (MIDUS). In the Finnish Twin Cohort, higher BMI was associated with higher depressive symptoms in monozygotic (MZ) twins (B = 2.01, 95% CI = 1.0, 3.0) and dizygotic (DZ) twins (B = 1.17, 0.5, 1.9) with BMI >22. This association was observed in within-pair analysis in DZ twins (B = 1.47, CI = 0.4, 2.6) but not in within-pair analysis of MZ twins (B = 0.03, CI = -1.9, 2.0). Consistent with the latter result, a bivariate genetic model indicated that the association between higher BMI and higher depressive symptoms was largely mediated by genetic factors. The results of twin-pair analysis and bivariate genetic model were replicated in the MIDUS sample. These findings suggest an association between obesity and higher depressive symptoms, which is largely explained by shared heritable biological mechanisms. PMID:27055784

  3. Dizygotic twins with myelomeningocele.

    PubMed

    Das, Ghanshyam; Aggarwal, Anju; Faridi, M M A

    2003-03-01

    Among the neural tube defects incidence of spinabifida and myelomeningocele is less in twins compared to singletons. This article reports a case of dizygotic twins with myelomeningocele, a rare occurrence. Possible association of twining and neural tube defects and its impact on genetic counseling in such cases has been discussed. PMID:12785300

  4. Guidelines on Library Twinning.

    ERIC Educational Resources Information Center

    Doyle, Robert P., Comp.; Scarry, Patricia, Comp.

    This document serves as an overview of the many forms of library twinning, or formal exchanges of materials and/or staff between two institutions. Twinning can be reciprocal, but often involves a one-way arrangement whereby a library in a developing country receives a visit from a librarian of a developed country. Either way, both institutions can…

  5. The use of the twin model to investigate the genetics and epigenetics of skin diseases with genomic, transcriptomic and methylation data.

    PubMed

    Bataille, V; Lens, M; Spector, T D

    2012-09-01

    Twins have always fascinated medical research even before the discovery of DNA and the understanding of the differences between identical and non-identical twins. Dermatology with the benefit of being able to visualize phenotypes was one of the first specialities reporting on the fascinating concordance in identical (MZ) twins in the 1920's. Over the last 20 years, the heritability of skin diseases using twins has been clearly demonstrated, across a wide variety of traits including melanoma, polymorphic light eruption, psoriasis, eczema and acne. Other rarer diseases have also been shown to have a significant genetic basis such as lupus, sarcoidosis and lichen sclerosus. Following evidence of heritability for many skin disease the next step was Genome-Wide Association Studies (GWAS) which are uncovering new genes in large twin cohorts. The twin model is also ideal for the new field of epigenetics, investigating subtle differences in DNA methylation within discordant MZ pairs for a disease, as well as differences in CNVs. Twins are also valuable for examining differences in gene function via RNA expression in twins discordant for a skin trait or disease. PMID:22243446

  6. Witnessing quantum discord in 2xN systems

    SciTech Connect

    Bylicka, Bogna; Chruscinski, Dariusz

    2010-06-15

    Bipartite states with vanishing quantum discord are necessarily separable and hence positive partial transpose (PPT). We show that 2xN states satisfy additional property: the positivity of their partial transposition is recognized with respect to the canonical factorization of the original density operator. We call such states strong PPT (SPPT). Therefore, we provide a natural witness for a quantum discord: if a 2xN state is not SPPT it must contain nonclassical correlations measured by quantum discord. It is an analog of the celebrated Peres-Horodecki criterion: if a state is not PPT it must be entangled.

  7. Discord as a quantum resource for bi-partite communication

    SciTech Connect

    Chrzanowski, Helen M.; Assad, Syed M.; Symul, Thomas; Lam, Ping Koy; Gu, Mile; Modi, Kavan; Vedral, Vlatko; Ralph, Timothy C.

    2014-12-04

    Coherent interactions that generate negligible entanglement can still exhibit unique quantum behaviour. This observation has motivated a search beyond entanglement for a complete description of all quantum correlations. Quantum discord is a promising candidate. Here, we experimentally demonstrate that under certain measurement constraints, discord between bipartite systems can be consumed to encode information that can only be accessed by coherent quantum interactions. The inability to access this information by any other means allows us to use discord to directly quantify this ‘quantum advantage’.

  8. Experimental verification of quantum discord in continuous-variable states

    NASA Astrophysics Data System (ADS)

    Hosseini, S.; Rahimi-Keshari, S.; Haw, J. Y.; Assad, S. M.; Chrzanowski, H. M.; Janousek, J.; Symul, T.; Ralph, T. C.; Lam, P. K.

    2014-01-01

    We introduce a simple and efficient technique to verify quantum discord in unknown Gaussian states and a certain class of non-Gaussian states. We show that any separation in the peaks of the marginal distributions of one subsystem conditioned on two different outcomes of homodyne measurements performed on the other subsystem indicates correlation between the corresponding quadratures, and hence nonzero discord. We also apply this method to non-Gaussian states that are prepared by overlapping a statistical mixture of coherent and vacuum states on a beam splitter. We experimentally demonstrate this technique by verifying nonzero quantum discord in a bipartite Gaussian and certain non-Gaussian states.

  9. Entanglement and discord: Accelerated observations of local and global modes

    NASA Astrophysics Data System (ADS)

    Doukas, Jason; Brown, Eric G.; Dragan, Andrzej; Mann, Robert B.

    2013-01-01

    We investigate the amount of entanglement and quantum discord extractable from a two-mode squeezed state as considered from the viewpoint of two observers, Alice (inertial) and Rob (accelerated). We find that using localized modes produces qualitatively different correlation properties for large accelerations than do Unruh modes. Specifically, the entanglement undergoes a sudden death as a function of acceleration, and the discord asymptotes to zero in the limit of infinite acceleration. We conclude that the previous Unruh mode analyses do not determine the acceleration-dependent entanglement and discord degradation of a given quantum state.

  10. Non-Markovian effect on the quantum discord

    SciTech Connect

    Wang Bo; Xu Zhenyu; Chen Zeqian; Feng Mang

    2010-01-15

    We study the non-Markovian effect on the dynamics of the quantum discord by exactly solving a model consisting of two independent qubits subject to two zero-temperature non-Markovian reservoirs, respectively. Considering the two qubits initially prepared in Bell-like or extended Werner-like states, we show that there is no occurrence of the sudden death, but only instantaneous disappearance of the quantum discord at some time points, in comparison to the entanglement sudden death in the same range of the parameters of interest. This implies that the quantum discord is more useful than the entanglement to describe the quantum correlation involved in quantum systems.

  11. Circulating MicroRNAs and Life Expectancy Among Identical Twins.

    PubMed

    Wu, Shenghui; Kim, Taek-Kyun; Wu, Xiaogang; Scherler, Kelsey; Baxter, David; Wang, Kai; Krasnow, Ruth E; Reed, Terry; Dai, Jun

    2016-09-01

    Human life expectancy is influenced not only by longevity assurance mechanisms and disease susceptibility loci but also by the environment, gene-environment interactions, and chance. MicroRNAs (miRNAs) are a class of small noncoding RNAs closely related to genes. Circulating miRNAs have been shown as promising noninvasive biomarkers in the development of many pathophysiological conditions. However, the concentration of miRNA in the circulation may also be affected by environmental factors. We used a next-generation sequencing platform to assess the association of circulating miRNA with life expectancy, for which deaths are due to all causes independent of genes. In addition, we showed that miRNAs are present in 41-year archived plasma samples, which may be useful for both life expectancy and all-cause mortality risk assessment. Plasma miRNAs from nine identical male twins were profiled using next-generation sequencing. The average absolute difference in the minimum life expectancy was 9.68 years. Intraclass correlation coefficients were above 0.4 for 50% of miRNAs. Comparing deceased twins with their alive co-twin brothers, the concentrations were increased for 34 but decreased for 30 miRNAs. Identical twins discordant in life expectancy were dissimilar in the majority of miRNAs, suggesting that environmental factors are pivotal in miRNAs related to life expectancy. PMID:27402348

  12. Increased Fetal Plasma Erythropoietin in Monochorionic Twin Pregnancies With Selective Intrauterine Growth Restriction and Abnormal Umbilical Artery Doppler.

    PubMed

    Chang, Yao-Lung; Chao, An-Shine; Peng, Hsiu-Huei; Chang, Shuenn-Dyh; Su, Sheng-Yuan; Chen, Kuan-Ju; Cheng, Po-Jen; Wang, Tzu-Hao

    2016-08-01

    Hypoxia is the primary stimulus for the production of erythropoietin (EPO) in both fetal and adult life. Here, we investigated fetal plasma EPO concentrations in monochorionic (MC) twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery (UA) Doppler. We diagnosed sIUGR in presence of (1) birth-weight discordance >20% and (2) either twin with a birth weight <10th percentile. An abnormal UA Doppler was defined as a persistent absent-reverse end diastolic flow (AREDF). The intertwin EPO ratio was calculated as the plasma EPO level of the smaller (or small-for-gestational-age) twin divided by the EPO concentration of the larger (or appropriate-for-gestational-age (AGA)) twin. Thirty-two MC twin pairs were included. Of these, 17 pairs were normal twins (Group 1), seven pairs were twins with sIUGR without UA Doppler abnormalities (Group 2), and eight pairs were twins with sIUGR and UA Doppler abnormalities (Group 3). The highest EPO ratio was identified in Group 3 (p < .001) but no significant differences were observed between Groups 1 and 2. Fetal hemoglobin levels did not differ significantly in the three groups, and fetal EPO concentration did not correlate with gestational age at birth. We conclude that fetal plasma EPO concentrations are selectively increased in MC twin pregnancies with sIUGR and abnormal UA Doppler, possibly as a result of uncompensated hypoxia. PMID:27161360

  13. Are differences between twins a result of mutual rivalry?

    PubMed

    Borg, J G

    1997-01-01

    The sexual index included in the Szondi test makes it possible to define the domains of an individual's "internal sex" or gender-especially the degree of the subject's bisexuality. This index was employed in a comparison between partners reared together in 62 monozygotic and 23 dizygotic pairs of twins. The observed incongruence in 1/3 MZ pairs would not appear to derive totally from errors of measurement. In most of these pairs it is competition which underlies the incongruence seen on the sexual index. It was further observed that the congruence here as in general in female pairs is clearly more marked than in males. A hypothesis was proposed, whereby competition for dominance is a distinctively major-tonality (masculinity) characteristic. The incongruence is more conspicuous among males because males are in general more markedly major-toned than females. This hypothesis was borne out. It is thus necessary here as in general to adopt two sex variables in parallel: external (i.e. matricular) sex and internal sex (gender). It is due to the presence of these competitive pairs that the means and especially deviations of twins' test results will consistently diverge from those in the population at large. PMID:9298156

  14. Insights on Solar Twins

    NASA Astrophysics Data System (ADS)

    Sousa Duarte, Tharcisyo Sa e.; Soares da Costa, Jefferson; Dias do Nascimento Júnior, José

    2015-08-01

    The question about how to define a real solar twin are still active. Cayrel de Strobe et al. (1981) defined a solar twin like a star having at the same time the physical parameters, Teff, gravity, bolometric magnitude, microturbulent velocity, and chemical composition. We presented the more extensive sample of solar twins known to date. From these targets we will study the behavior of the solar twins as a function of fundamentals stellar parameters, effective temperature, luminosity, age, convective envelope mass deepening (1 - M*/M⊙), lithium abundance and rotation period. We selected the solar twins from observations with the spectropolarimeters ESPaDOnS at CFHT and the Narval at TBL and also on literature. All objects have high resolution and high signal to noise. Analyze this sample of solar twins will help us to understand how these stars whether located around of the Sun's place. Our preliminary results show that the lithium abundance presents one clear correlation with stellar age. The (1 - M*/M⊙) values obtained through our method provided good agreement with the solar value. The rotation periods allow us to assess the solar twins as a function of gyrochronology.

  15. An Investigation of Exceptional Twins.

    ERIC Educational Resources Information Center

    Crismore, Avon

    The author, herself a mother of twins, reviews research on exceptional twins. She considers reasons for fascination with twins and comments upon important advances in technology. Current research in Indianapolis to measure cognitive, perceptual, personality, and chromosome patterns of twins is described. Differences in the makeup of identical and…

  16. Reappraisal of twinning: epidemiology and outcome in the early neonatal period

    PubMed Central

    Gupta, Priyanka; Faridi, Mohammad Moonis Akbar; Goel, Neerja; Zaidi, Zeashan

    2014-01-01

    INTRODUCTION The present study aimed to determine the epidemiology, maternal complications and adverse neonatal outcomes associated with twin births at a tertiary care hospital in India. METHODS A prospective observational study was conducted on all successively born twin pairs (≥ 23 weeks of gestation) and their mothers from January to September 2005. Main outcome measures included maternal medical/obstetric complications, labour characteristics and the morbidities/mortality observed during the early neonatal period. RESULTS The twinning rate was 1 in 54 deliveries. Around 10% of mothers had a predisposition for twinning in the form of familial tendency or consumption of clomiphene. Anaemia (85%) was the most common maternal complication, followed by gestational hypertension (17%). Nearly one-third of births were delivered via Caesarean section. Prematurity (61%) was the most common neonatal complication followed by early-onset neonatal sepsis (21%). The risk of early neonatal death was 27%. Shorter gestation and low birth weight were significantly associated with adverse neonatal outcome (p < 0.05). Factors such as chorionicity, mode of delivery, birth order, inter-twin delivery time interval, gender and intra-pair birth weight discordance did not affect neonatal morbidity or mortality (p ≥ 0.05). CONCLUSION The rates of maternal complications and early neonatal morbidities/mortality were quite high in twin gestations. Except for the prematurity and low birth weight, none of the other factors, including inter-twin delivery time interval of more than 15 mins, were found to affect neonatal outcome. PMID:25017406

  17. Past present: Relationship dynamics may differ among discordant gay male couples depending on HIV infection history

    PubMed Central

    Beougher, Sean C.; Mandic, Carmen Gómez; Darbes, Lynae A.; Chakravarty, Deepalika; Neilands, Torsten B.; Garcia, Carla C.; Hoff, Colleen C.

    2013-01-01

    Discordant couples are unique because neither partner shares the same serostatus. Yet research overlooks how they became discordant, mistakenly assuming that they have always been that way and, by extension, that being discordant impacts the relationship in a similar manner. This study examines HIV infection history and its impact on relationship dynamics using qualitative data from 35 discordant gay male couples. Most couples met discordant (69%); however, many did not (31%). Those couples that met discordant felt being discordant had a lesser impact on their sexual and relational satisfaction, while those that did not meet discordant felt it had a greater impact, reporting sexual frustration and anxiety over seroconverting. This suggests that relationship dynamics may differ for discordant couples depending on HIV infection history. HIV prevention and counseling services for discordant couples can be better tailored and more effective when differences in HIV infection history are recognized. PMID:24244082

  18. Past present: Relationship dynamics may differ among discordant gay male couples depending on HIV infection history.

    PubMed

    Beougher, Sean C; Mandic, Carmen Gómez; Darbes, Lynae A; Chakravarty, Deepalika; Neilands, Torsten B; Garcia, Carla C; Hoff, Colleen C

    2013-10-01

    Discordant couples are unique because neither partner shares the same serostatus. Yet research overlooks how they became discordant, mistakenly assuming that they have always been that way and, by extension, that being discordant impacts the relationship in a similar manner. This study examines HIV infection history and its impact on relationship dynamics using qualitative data from 35 discordant gay male couples. Most couples met discordant (69%); however, many did not (31%). Those couples that met discordant felt being discordant had a lesser impact on their sexual and relational satisfaction, while those that did not meet discordant felt it had a greater impact, reporting sexual frustration and anxiety over seroconverting. This suggests that relationship dynamics may differ for discordant couples depending on HIV infection history. HIV prevention and counseling services for discordant couples can be better tailored and more effective when differences in HIV infection history are recognized. PMID:24244082

  19. Twin-to-Twin Transfusion Syndrome

    PubMed Central

    Mahieu-Caputo, Dominique; Dommergues, Marc; Delezoide, Anne-Lise; Lacoste, Mireille; Cai, Yi; Narcy, Françoise; Jolly, Dominique; Gonzales, Marie; Dumez, Yves; Gubler, Marie-Claire

    2000-01-01

    The twin-to-twin transfusion syndrome (TTS) results from an unbalanced blood supply through placental anastomoses in monochorionic twins. It induces growth restriction, renal tubular dysgenesis, and oliguria in the donor and visceromegaly and polyuria in the recipient. A better understanding of its pathophysiology could contribute to improving the management of TTS, which still carries a high perinatal mortality in both twins. As well as several other candidates, the renin-angiotensin system might be involved in TTS. To evaluate its role in the pathogenesis of the syndrome, we studied the kidneys of 21 twin pairs who died from TTS at 19 to 30 weeks, compared with 39 individuals in a control group, using light microscopy, immunohistochemistry, and in situ hybridization. The overexpression of the renin protein and transcript with frequent evidence of renin synthesis by mesangial cells was observed in the donor kidneys, presumably as a consequence of chronic renal hypoperfusion. This upregulation of renin synthesis might be beneficial to restore euvolemia. In severe cases of TTS, however, angiotensin-II-induced vasoconstriction acts as an additional deleterious factor by further reducing the renal blood flow in donors. In recipients, renin expression was virtually absent, possibly because it was down-regulated by hypervolemia. However, in addition to congestion and hemorrhagic infarction, there were severe glomerular and arterial lesions resembling those observed in polycythemia- or hypertension-induced microangiopathy. We speculate that fetal hypertension in the recipient might be partly mediated by the transfer of circulating renin produced by the donor, through the placental vascular shunts. PMID:10666392

  20. Parental marital discord and treatment response in depressed adolescents.

    PubMed

    Amaya, Meredith M; Reinecke, Mark A; Silva, Susan G; March, John S

    2011-04-01

    Evidence suggests that parental marital discord contributes to the development of internalizing and externalizing symptoms in children and adolescents. Few studies, however, have examined the association between parental marital discord and youth's response to treatment. The present study examined the impact of interparental discord on treatment response in a randomized control trial of adolescents with major depression enrolled in the Treatment for Adolescents with Depression Study (TADS). Participants were 260 adolescents from two-parent households randomly assigned to one of four treatment groups: fluoxetine (FLX), cognitive behavior therapy (CBT), their combination (COMB), or placebo (PBO). Logistic regressions revealed that parental marital discord interacted with youth gender and co-morbid oppositionality symptoms to predict group differences in treatment response. PMID:20957515