Family history interviews are widely used in psychiatric research, as well as in genetic and twin studies, and provide a way to collect family history information quickly and economically. To obtain a valid assessment of family history, it is important to investigate which family member will be able to provide accurate information. Previous research shows that the validity of family history reporting can be influenced by characteristics of the informant, such as age, gender and personal history of psychiatric disorder. The aim of this study was to investigate the role of a subject's position in a pedigree on the validity of data collection. Family history data on diabetes and psychiatric disorders were collected in three generations of 33 families by interviewing both an index subject (3rd generation) and his or her mother (2nd generation). Mothers were shown to report higher rates of diabetes and psychiatric disorder in the family compared to the index subjects. There was no significant difference in the disease rate reported by male and female index subject. Mothers who experienced a depressive episode indicated significantly more family members as having a psychiatric disorder than mothers who never experienced such an episode. This could be explained by the presence of informant bias, but may also result from the fact that depression is a heritable disorder and is therefore actually more prevalent in these families. Our findings suggest that family interview data should be collected by interviewing subjects who have a central position in the pedigree and can therefore provide information on his/her own generation, the previous and the next. In addition, psychiatric status of the informant should be carefully addressed.

In twin pregnancy studies, molecular genetic techniques have rarely been used to determine zygosity, despite their known precision and accuracy. The present work aimed to assess the power of discrimination in zygosity assessment, using a set of microsatellite markers that were routinely used for aneuploidy screening by multiplex-PCR in a prenatal context. Rapid aneuploidy screening using a group of 20 microsatellite markers (STRs) located on chromosomes 13, 18, 21 and X has been performed in our lab for over 10 years, with a total of approximately 1,500 samples studied to date. A retrospective analysis of the 257 prenatal samples from multiple pregnancies was carried out. A subset of 14 cases presenting theoretical monozygosity were re-evaluated by the use of biostatistics tools accessed via the ZygProb website. Further monozygosity determination relative to dizygosity was calculated, given an estimated overall error value of 0.093%. The results show that monozygosity had been correctly determined in all our previously studied twins. This work demonstrates that accurate zygosity assessment can be achieved with the same STRs applied in aneuploidy screening with a high power of discrimination and a matching probability of over 99.999999%.

A set of 10 SNPs associated with reading ability in 7-year-olds was reported based on initial pooled analyses of 100K SNP chip data, with follow-up testing stages using pooling and individual testing. Here we examine this association in an adolescent population sample of Australian twins and siblings (N = 1177) aged 12 to 25 years. One (rs1842129) of the 10 SNPs approached significance (P = .05) but no support was found for the remaining 9 SNPs or the SNP set itself. Results indicate that these SNPs are not associated with reading ability in an Australian population. The results are interpreted as supporting use of much larger SNP sets in common disorders where effects are small.

The present research examined the extent to which relations between social values and personality are due to shared genetic or environmental factors. Using the Rokeach (1973) Value Survey and a scoring key from Schwartz and Bilsky (1990), seven value scores (enjoyment, achievement, self-direction, maturity, prosocial, security, and restrictive conformity) were derived in a sample of twins. As expected, all of the value scales were found to have a significant genetic component, with values ranging from 36% for enjoyment to 63% for prosocial, and there were numerous significant phenotypic correlations found between the value scales and personality scores. Most important, bivariate genetic analyses revealed that some of these phenotypic correlations could be attributed to common genetic or environmental factors.

Postcoital psychological symptoms (PPS) is a virtually unexplored phenomenon in the female population even though women frequently complain about irritability and motiveless crying after intercourse and/or orgasm. The aim of this study was to explore the epidemiology and genetic influences of PPS in a UK population sample of women. 1,489 unselected female twins aged 18–85 completed questions on recent and persistent PPS and potential risk factors. Standard methods of quantitative genetic analysis were used to model latent genetic and environmental factors influencing variation in PPS. For identification of potential risk factors, regression analyses were conducted. Phenotypic variation in PPS was explored using a genetic variance component analysis (VCA) approach. We found 3.7% of women reported suffering from recent PPS and 7.7% from persistent PPS. Relationship satisfaction and experience of abuse were found to be independently associated with recent (OR 4.5, 95% CI 4.13–4.87 and OR 1.3, 95% CI 1.02–1.34, respectively) and persistent PPS (OR 2.53, 95% CI 2.17–2.81 and OR 1.16, 95% CI 1.09–1.26, respectively). VCA revealed that phenotypic variance was best explained by an additive genetic (AE) model, ascribing 28% (for recent PPS) and 26% (for persistent PPS) of phenotypic variance to additive genetic effects, with the rest being a result of individual experiences and random measurement error. To our knowledge, this is the first and largest study investigating the epidemiology of PPS. It seems that the most important targets for intervention and prevention occur outside of the family, such as relationship quality and satisfaction, and history of abuse.

Mental health is increasingly defined not only by the absence of illness but by the presence of subjective well-being (SWB). Previous cohort studies have consistently shown that indicators of SWB predict favorable life outcomes, including better mental and somatic health, and longevity. The favorable effects associated with SWB have prompted new research aimed at raising happiness and wellbeing through individual interventions and public health initiatives. Standard observational studies of individual-level associations, however, are subject to potential confounding of exposure and outcome by shared genes and environment. The present study explored the association between SWB and increased longevity, using twin pair analyses to determine whether the association is consistent with causality or is due to genetic or environmental confounding. The study sample of 3,966 twins aged 70 or older, followed for a median time period of 9 years, was drawn from the population-based Longitudinal Study of Aging Danish Twins (LSADT). The association between SWB, operationalized as affect and life satisfaction, and all-cause mortality risk was examined using between-individual and within-pair survival analyses. As expected, at the individual level, SWB predicted increased longevity. Exposure effects were also present in unadjusted and adjusted within-pair analyses of 400 dizygotic (DZ) pairs and 274 monozygotic (MZ) pairs, indicating that SWB is associated with increased longevity independent of familial factors of genes and shared environment.

Background: We performed a genome-wide scan in a homogeneous Arab population to identify genomic regions linked to blood pressure (BP) and its intermediate phenotypes during mental and physical stress tests. Methods: The Oman Family Study subjects (N = 1277) were recruited from five extended families of ~10 generations. Hemodynamic phenotypes were computed from beat-to-beat BP, electrocardiography and impedance cardiography. Multi-point linkage was performed for resting, mental (word conflict test, WCT) and cold pressor (CPT) stress and their reactivity scores (s), using variance components decomposition-based methods implemented in SOLAR. Results: Genome-wide scans for BP phenotypes identified quantitative trait loci (QTLs) with significant evidence of linkage on chromosomes 1 and 12 for WCT-linked cardiac output (LOD = 3.1) and systolic BP (LOD = 3.5). Evidence for suggestive linkage for WCT was found on chromosomes 3, 17 and 1 for heart rate (LOD = 2.3), DBP (LOD = 2.4) and left ventricular ejection time (LVET), respectively. For △WCT, suggestive QTLs were detected for CO on chr11 (LOD = 2.5), LVET on chr3 (LOD = 2.0) and EDI on chr9 (LOD = 2.1). For CPT, suggestive QTLs for HR and LVET shared the same region on chr22 (LOD 2.3 and 2.8, respectively) and on chr9 (LOD = 2.3) for SBP, chr7 (LOD = 2.4) for SV and chr19 (LOD = 2.6) for CO. For △CPT, CO and TPR top signals were detected on chr15 and 10 (LOD; 2.40, 2.08) respectively. Conclusion: Mental stress revealed the largest number of significant and suggestive loci for normal BP reported to date. The study of BP and its intermediate phenotypes under mental and physical stress may help reveal the genes involved in the pathogenesis of essential hypertension.

Twin studies suggest that global and regional brain volumes are highly heritable. However, estimates of heritability vary across development. Given that all twin studies are open to the potential criticism of non-generalizability due to differences in intrauterine environment between twins and singletons, these age effects may reflect the influence of perinatal environmental factors, which are unique to twins and which may be especially evident early in life. To address this question, we compared brain volumes and the relationship of brain volumes to gestational age in 136 singletons (67 male, 69 female) and 154 twins (75 male, 79 female; 82 DZ, 72 MZ) who had received high resolution MRI scans of the brain in the first month of life. Intracranial volume, total white matter, and ventricle volumes did not differ between twins and singletons. However, cerebrospinal fluid and frontal white matter volume was greater in twins compared to singletons. While gray matter volumes at MRI did not differ between groups, the slope of the relationship between total and cortical gray matter and gestational age at the MRI scan was steeper in MZ twins compared to DZ twins. Post-hoc analyses suggested that gray matter development is delayed in MZ twins in utero and that they experience ‘catch-up’ growth in the first month of life. These differences should be taken into account when interpreting and designing studies in the early postnatal period.

This study compared the anatomical features of the tongue in nine pairs of twins — six monozygotic and three dizygotic. The aim of the project was to determine if tongues, like any other anatomical structure, could be used to reliably predict relatedness given that tongue shape, presentation and surface can be influenced by environment. Using the method of forced choice, 30 subjects were asked to match the photographs of tongues from twins. Our data indicate that, based on visual assessment, monozygotic twins have highly similar tongues (60% matches); similarly, dizygotic twins were matched 31% of the time, which is a higher probability than would be expected from random selection. This study should help identify baseline and control data in future behavioral studies of taste, which has a genetic basis.

Objective: Routine obstetric ultrasound increasingly leads to the detection of structural fetal anomalies. In twin pregnancies with one anomalous twin, counseling on management strategies is complicated. Patients and methods: Twin pregnancies (n = 212) were referred to a tertiary center between January 2007 and July 2009. In a retrospective analysis, twins discordant for a structural fetal anomaly were compared to twins without anomalies in the prenatal ultrasound. Outcome parameters were survival and gestational age at birth. Results: Anomalies were seen in at least one fetus of 30 twin pairs. The two pregnancies in which the anomalies were concordant were terminated. Selective feticide was performed in three cases of major but non-lethal anomalies in dichorionic twins. The remaining 25 cases were managed expectantly. In three of these cases, spontaneous fetal demise of the affected fetus was observed. In five cases with major (lethal) anomalies, the pregnant women and their partners opted for non-intervention comfort care after birth for the affected fetus. Median gestational age at delivery was 257 days for twins without structural anomalies and was 254 days (n = 22) for twins with one anomalous fetus. This was not significantly different (Mann Whitney U, p = .69). Again, no difference was found for median gestational age at delivery in normal vs. discordant anomalous dichorionic twins if subdivided for chorionicity (Mann Whitney U, p = .68). Conclusion: In this cohort we describe the request for expectant management by pregnant women and their partners of those twins discordant for major (lethal) anomalies. Expectant management was not associated with increased risk of premature delivery. Fetocide was only opted for in a small number of cases with severe but non-lethal anomalies in dichorionic twins.

The present article explores the social attraction that may evolve on the part of reared apart twins' spouses toward their brothers- and sisters-in-law, that is, their spouses' newly found co-twin. This topic was inspired by the fascinating story of monozygotic reared apart (MZA) twins who were reunited in Perth, Australia in 2008, at age 50. It is followed by brief reviews of twin research articles concerning divorce rates among mothers of multiples and X-chromosome inactivation in MZ female twin pairs. The final section presents informative human interest stories involving twins.