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.

Background: Somatic symptoms often co-occur with psychological symptoms but this overlap is poorly understood. Some aspects of this overlap differ in the South Asian context, but it is not clear whether this is a reporting effect or an underlying difference in experienced illness. Methods: Home interviews were administered to 4,024 twins randomly selected from a population-based twin register in the Colombo district of Sri Lanka (the CoTASS study). These included assessments of psychological, somatic and fatigue symptoms. The data were analyzed using factor analytic and quantitative genetic approaches. Results: Confirmatory factor analysis showed that the symptoms from the three scales represented three separate dimensions, rather than all tapping into a single dimension. However, familial correlations among the data were most consistent with a common pathway model. This implies that a portion of the underlying vulnerability is common across psychological, fatigue and somatic symptoms. There were sex differences in the etiology of this model, with shared environmental and genetic influences playing different roles in men and women. Conclusions: There is a complex etiological relationship between psychological, fatigue and somatic symptoms. This is similar in Sri Lanka to Western countries, but there may be a greater influence from the family environment, suggesting that care needs to be taken when generalizing research findings between countries. People who complain of certain fatigue or somatic symptoms may well also have psychological symptoms, or may have genetic or environmental vulnerabilities to such problems.

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.

The equal environments assumption, which holds that trait-relevant environments are equally correlated among monozygotic (MZ) and dizygotic (DZ) twin pairs, is essential to twin designs. Violations of this assumption could lead to biased parameter estimates in twin models. A variety of methods and measures have been used to test this assumption. No studies to date have evaluated the measurement invariance of such items or examined the distribution of the underlying equal environments trait. The current study was an investigation of the psychometric properties of a self-report measure of twins' equal environments. Exploratory and confirmatory factor analysis results indicated that items loaded onto ‘child’ and ‘teen’ equal environments factors. Factor loadings and factor variances and their covariance were invariant for MZ and DZ twins; however, DZ twins had significantly lower factor means than MZ twins. Further, these items demonstrated adequate test–retest reliability. Lastly, the child and teen factors may be bimodally distributed, particularly for MZ twin pairs. Measurement invariance issues, as well as distributions of equal environments traits, should be considered when evaluating the equal environments assumption, in order to produce accurate parameter estimates in twin models.

This study employs multiple regression models based on DeFries and Fulker (1985), and a large sample of twins, to assess heritability in attitudes towards economic risk, and the extent to which this heritability differs between males and females. Consistent with Cesarini et al. (2009), it is found that attitudes towards risk are moderately heritable, with about 20 percent of the variation in these attitudes across individuals being linked to genetic differences. This value is less than one-half the estimates reported by Zyphur et al. (2009) and Zhong et al. (2009). While females are more risk averse than males, there is no evidence that heritability in attitudes towards risk differs between males and females. Even though heritability is shown to be important to economic risk-taking, the analyses suggest that multivariate studies of the determinants of attitudes towards risk which to not take heritability into consideration still provide reliable estimates of the partial effects of other key variables, such as gender and educational attainment.

This replication study examines relations between alexithymia and trait emotional intelligence (trait EI) at the phenotypic, genetic, and environmental levels. A sample of 1,444 same-sex twin pairs (850 MZ pairs and 594 DZ pairs) completed the Toronto Alexithymia Scale-20. A subset of 494 same-sex twin pairs (287 MZ pairs and 207 DZ pairs) had earlier completed the Trait Emotional Intelligence Questionnaire. Individual differences in alexithymia were attributable to genetic, non-shared environmental, and shared environmental factors. All but one of the facets of alexithymia were negatively and significantly correlated with the factors of trait EI, and these phenotypic correlations were entirely attributable to correlated genetic and correlated non-shared environmental factors. These bivariate results provide a valuable replication of those of Baughman et al. (Twin Research and Human Genetics, Vol. 14, 2011, pp. 539–543), which was conducted with substantially smaller samples of twins.

Diurnal preference is an individual's preference for daily activities and sleep timing and is strongly correlated with the underlying circadian clock and the sleep-wake cycle validating its use as an indirect circadian measure in humans. Recent research has implicated DNA methylation as a mechanism involved in the regulation of the circadian clock system in humans and other mammals. In order to evaluate the extent of epigenetic differences associated with diurnal preference, we examined genome-wide patterns of DNA methylation in DNA from monozygotic (MZ) twin-pairs discordant for diurnal preference. MZ twins were selected from a longitudinal twin study designed to investigate the interplay of genetic and environmental factors in the development of emotional and behavioral difficulties. Fifteen pairs of MZ twins were identified in which one member scored considerably higher on the Horne–Ostberg Morningness–Eveningness Questionnaire (MEQ) than the other. Genome-wide DNA methylation patterns were assessed in twins’ buccal cell DNA using the Illumina Infinium HumanMethylation450 BeadChips. Quality control and data pre-processing 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. Our data indicate that DNA methylation differences are detectable in MZ twins discordant for diurnal preference. Moreover, downstream gene ontology (GO) enrichment analysis on the top-ranked diurnal preference associated DMPs revealed significant enrichment of pathways that have been previously associated with circadian rhythm regulation, including cell adhesion processes and calcium ion binding.

Mutations in Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A) and Cyclin-Dependent Kinase 4 (CDK4) contribute to susceptibility in approximately 40% of high-density cutaneous melanoma (CMM) families and about 2% of unselected CMM cases. BRCA-1 associated protein-1 (BAP1) has been more recently shown to predispose to CMM and uveal melanoma (UMM) in some families; however, its contribution to CMM development in the general population is unreported. We sought to determine the contribution of these genes to CMM susceptibility in a population-based sample of cases from Australia. We genotyped 1,109 probands from Queensland families and found that approximately 1.31% harbored mutations in CDKN2A, including some with novel missense mutations (p.R22W, p.G35R and p.I49F). BAP1 missense variants occurred in 0.63% of cases but no CDK4 variants were observed in the sample. This is the first estimate of the contribution of BAP1 and CDK4 to a population-based sample of CMM and supports the previously reported estimate of CDKN2A germline mutation prevalence.

Significant familial aggregation was observed for plasma levels of lathosterol (an indicator of whole-body cholesterol synthesis) and plant sterols campesterol and β-sitosterol (indicators of cholesterol absorption) in 160 Dutch families consisting of adolescent mono- and dizygotic twin pairs and their parents. For lathosterol a moderate genetic heritability in parents and offspring (29%) was found. In addition, shared environment also contributed significantly (37%) to variation in plasma lathosterol concentrations in twin siblings. However, a model with different genetic heritabilities in the two generations (10% in parents and 68% in offspring) fitted the data almost as well. For plasma plant sterol concentrations high heritabilities were found. For campesterol heritability was 80% and for β-sitosterol it was 73%, without evidence for differences in heritability between sexes or generations. No influence of common environmental influences shared by family members was seen for either campesterol or β-sitosterol. Taken together, these results confirm and expand the hypothesis that individual differences in plasma levels of noncholesterol sterols are moderately (lathosterol) to highly (plant sterols) heritable.

The aim of this study was to determine the accuracy of sonographic chorionicity determination in the largest sample of twin pregnancies to date. We retrospectively analyzed 463 twin pregnancies delivered over a 6-year period to determine in each case what the antenatal sonographic prediction of chorionicity was, and then what the subsequent post partum pathological diagnosis of chorionicity was. Out of 436 twin pregnancies, 428 were correctly diagnosed for chorionicity as confirmed by pathology reports. Sonography as a screening tool for monochorionic twin pregnancies has a sensitivity of 100%, a specificity of 97.9% and a predictive value positive of 88.2%. Transvaginal scanning in the first trimester determined twin chorionicity with a sensitivity and a specificity of 100%. This study has confirmed in the largest sample to date that sono- graphic chorionicity determination is best done in the first trimester using vaginal scans, where it has 100% accuracy.

We evaluated the genetic and environmental contributions to metabolic cardiovascular risk factors and their mutual associations. Eight metabolic factors (body mass index, waist circumference, waist-to-hip ratio, systolic blood pressure, diastolic blood pressure, total serum cholesterol, serum triglycerides, and serum uric acid) were measured in 508 twin pairs aged 8–17 years from the Qingdao Twin Registry, China. Linear structural equation models were used to estimate the heritability of these traits, as well as the genetic and environmental correlations between them. Among boys, body mass index and uric acid showed consistently high heritability (0.49–0.81), whereas other traits showed moderate to high common environmental variance (0.37–0.73) in children (8–12 years) and adolescents (13–17 years) except total cholesterol. For girls, moderate to high heritability (0.39–0.75) were obtained for six metabolic traits in children, while only two traits showed high heritability and others mostly medium to large common environmental variance in adolescents. Genetic correlations between the traits were strong in both boys and girls in children (r g = 0.64–0.99 between body mass index and diastolic blood pressure; r g = 0.71–1.00 between body mass index and waist circumference), but decreased for adolescent girls (r g = 0.51 between body mass index and waist-to-hip ratio; r g = 0.55 between body mass index and uric acid; r g = 0.61 between body mass index and systolic blood pressure). The effect of genetic factors on most metabolic traits decreased from childhood to adolescence. Both common genetic and specific environmental factors influence the mutual associations among most of the metabolic traits.

Aretrospective study involving 972 twin births was conducted to evaluate the maternal and fetal outcomes of twin pregnancies complicated by single fetal death. The incidence of single fetal death in twin pregnancies after 20 weeks was 3.3%. Preterm birth rates for 37 and 32 gestational weeks were 81.3% and 41.6% respectively. The median interval between the diagnosis of fetal death and the delivery was 11 days (range 1–27 days). Eighteen (56%) infants were delivered by cesarean and 14 (43%) vaginally. Twin–twin transfusion syndrome (TTTS) was the cause of single fetal death in 8 of 32 twin pregnancies (25%). Ten of the surviving co-twins were lost in the neonatal period (31.3%) and half of those neonatal deaths were due to TTTS. TTTS is the major contributor for perinatal mortality in same-sex twins complicated by single fetal death. The death of one twin in utero should not be the only indication for preterm delivery, and in case of severe prematurity with a stable intrauterine environment; expectant management may be advisable until fetal lung maturation ensues.

The extended twin kinship design allows the simultaneous testing of additive and nonadditive genetic, shared and individual-specific environmental factors, as well as sex differences in the expression of genes and environment in the presence of assortative mating and combined genetic and cultural transmission (Eaves et al., 1999). It also handles the contribution of these sources of variance to the (co)variation of multiple phenotypes. Keller et al. (2008) extended this comprehensive model for family resemblance to allow or a flexible specification of assortment and vertical transmission. As such, it provides a general framework which can easily be reduced to fit subsets of data such as twin-parent data, children-of-twins data, etc. A flexible Mx specification of this model that allows handling of these various designs is presented in detail and applied to data from the Virginia 30,000. Data on height, body mass index, smoking status, church attendance, and political affiliation were obtained from twins and their families. Results indicate that biases in the estimation of variance components depend both on the types of relative available for analysis, and on the underlying genetic and environmental architecture of the phenotype of interest.

Our aim was to evaluate the risk of death among healthy infants due to maltreatment, using national linked vital statistics data. The study population included all nonanomalous, full-term (≥ 37 weeks), non-low birthweight (> 2500 grams) infants born between 1995 and 2000 and their linked death certificates: 18,673,439 singleton pregnancies (36,864 deaths) and 77,800 twin pregnancies (356 pregnancies with a death). The underlying cause of death was characterized as due to maltreatment, sudden infant death syndrome (SIDS), and other causes, based on ICD-9 and ICD-10 codes, and modeled by maternal age using multinomial logistic regression; mothers aged 25 to 29 were the reference group. The highest risk for infant mortality was among the youngest mothers for maltreatment (AOR 2.45 and 1.95 for singleton mothers < 20 and aged 20 to 24, respectively; AOR 4.34 and 2.25 for twin mothers < 20 and aged 20 to 24, respectively). The risk of death overall and for each category was modeled by maternal age < 20, aged 20 to 24, and ≥ 25, with and without the father's age present on the birth certificate, with mothers ≥ 25 and father's age present as the reference group. All risks of death were significantly increased for mothers younger than age 25, with the highest risks among the youngest mothers and missing father's age. The pattern for twins was similar, with elevated risks among younger mothers with or without father's age present on the birth certificate. These results add to the body of knowledge regarding risk factors for infant mortality among healthy singletons and twins.

Arecent large-scale study of Finnish adolescent twins (Pulkkinen et al., 2003) reported that individuals from opposite-sex twin pairs were more socially adaptive than individuals from same-sex pairs or singletons. This finding raised questions about the social learning effects of being an opposite-sex twin. The current article predicted on the basis of this finding, and evidence from singleton populations, that having an opposite-sex twin would yield social advantage. It sought to examine the social competencies of opposite-sex twins and compare them with same-sex twins and singletons. The study focused on the preschool years (age 3 to 6), a period in which the majority of children encounter their first large group, nonfamilial social experiences. The study obtained reports from parents and teachers of children aged 3 to 6 years: 72 children (36 pairs) who were dizygotic opposite-sex twins (DZOS), 50 children (25 pairs) who were dizygotic same-sex twins (DZSS), and 85 singletons of the same age and sex as the twins, who had at least one sibling. Reports were made using standardized measures of social competencies, behavior problems, language development and friendships. The main effects found were of differences in social competency between twins and singletons. Twins had lower social competency scores. No differences between same-sex and opposite-sex twins were found. The findings did not support the hypothesis of social advantage for opposite-sex twins in early childhood.

Empathy plays a central role in prosocial behavior and human cooperation. Very few twin researchers have investigated innate and environmental effects in adult empathy, and twin research on gender differences in these effects is sparse. The goal of this study was to examine innate and environmental influences on three components of an empathy scale frequently used with adults — the expression of cognitive (CE), emotional (EE), and social skills (SS) empathy — and to explore gender differences in the influences. Study participants were ~1,700 twins (18–65 years) enrolled in the Italian Twin Registry. Empathy was assessed with the Italian version of the Empathy Quotient (EQ), for which the three-factor structure (i.e., CE, EE, and SS) was confirmed. Twin correlations in monozygotic and dizygotic pairs, and males and females were estimated for the total EQ and subscale scores, and univariate genetic model fitting was carried out. Women's empathy (i.e., total EQ as well as CE and EE subdimensions) was predominantly driven by genetic factors and individual experiences, whereas for males, no genetic contribution or important shared and individual environmental effects emerged. Although of large magnitude, the gender differences did not reach statistical significance. Age did not moderate empathy heritability in adulthood. Only for the SS subscale were genetic and environmental proportions of variance similar for men and women. This study suggests possible gender-specific innate and environmental influences on empathy and its cognitive and emotional components that need to be confirmed in future studies.

The purpose of this study was to clarify the genetic contribution to finger-sucking and nail- biting in childhood using the largest databases available on Japanese twins. The subjects were 1131 pairs of 12-year-old twin children, consisting of 1057 males and 1205 females. All data were gathered by maternal questionnaire, and responses to the questionnaire were checked in the medical interview. The prevalence of finger-sucking between 0 to 2 years was 40% in males and 43% in females (p = .0053). The prevalence of nail-biting up until the age of 12 years was 28% in males and 26% in females (nonsignificant). Concordance rates and polychoric correlations were all higher in monozygotic pairs than in dizygotic pairs, irrespective of the sex combination. Univariate and bivariate genetic analyses using structural equation modeling was performed. The results showed that the proportion of total phenotypic variance attributable to genetic influences was 66% in males and 50% in females for finger-sucking, and 50% in both males and females for nail-biting. A co-occurrence of finger-sucking and nail-biting was observed in 17.7% of males (tetrachoric correlation: r = .40) and 15.7% of females (r = .32), which was attributed partly to common genetic or environmental factors. The proportion of total shared variance explained by genetic factors was 67%.

There have been few replicated examples of genotype x environment interaction effects on behavioral variation or risk of psychiatric disorder. We review some of the factors that have made detection of genotype x environment interaction effects difficult, and show how genotype x shared environment interaction (GxSE) effects are commonly confounded with genetic parameters in data from twin pairs reared together. Historic data on twin pairs reared apart can in principle be used to estimate such GxSE effects, but have rarely been used for this purpose. We illustrate this using previously published data from the Swedish Adoption Twin Study of Aging (SATSA), which suggest that GxSE effects could account for as much as 25% of the total variance in risk of becoming a regular smoker. Since few separated twin pairs will be available for study in the future, we also consider methods for modifying variance components linkage analysis to allow for environmental interactions with linked loci.

This update on the Southern Illinois Twins and Siblings Study (SITSS) documents some of the follow-up studies that have been conducted and results that have been obtained from this sample. At the current time, 283 twin pairs, 8 triplet families, 98 non-twin sibling pairs, and 287 singletons have been enrolled in SITSS. Twins and triplets are tested as young as 1 year of age and then every year on their birthday through age 5 years. A variety of follow-up studies have been conducted for SITSS children through age 20. Results thus far have demonstrated significant genetic influences on social behaviors such as aggression, victimization, and attention toward facial expressions. Interesting interactions have been documented between the dopamine receptor D4 gene (DRD4) and the social environment (parental sensitivity or peer aggression) as they predict children's aggressive behaviors. In addition, increased difficulty with social interactions has been noted for twins versus singletons. Thus, this multi-trait, multi-method behavior genetic data set contributes to our understanding of the etiology of social behaviors in preschoolers and to predictors of similar behaviors through adolescence.

Many triplets are conceived as a consequence of assisted reproductive technology (ART). Concerns have been raised that triplet pregnancies conceived by ART are more complicated than those conceived spontaneously. The purpose of this study was to evaluate all triplet pregnancies managed over a 12-year period to determine if there were any differences in outcome based on the mode of conception. All triplet pregnancies between 1999 and 2011 that reached at least 20 weeks’ gestation and that were managed at the Royal Women's Hospital (RWH), Melbourne, Victoria were identified. Maternal and neonatal outcomes were compared between ART conceived and spontaneously conceived triplets. In the study period, 53 sets of triplets managed in our institution met the eligibility criteria. Twenty-five triplet sets were conceived by ART and 28 were conceived spontaneously. More ART conceptions resulted in trichorionic triamniotic (TCTA) triplets than did spontaneous conceptions (p = .015). There were no differences between ART and spontaneously conceived triplets for any of the maternal or neonatal complications studied. Trichorionic (TC) triplets delivered at a later gestation than other triplets: 32.1 (SD 2.9) versus 30.4 (SD 3.9) weeks (p = .08). TC triplets were significantly less likely to die than monochorionic (MC) or dichorionic (DC) triplets: 3/93 (3%) versus 13/66 (20%) (p = .025). In conclusion, triplets conceived by ART are more likely to have TCTA placentation and TCTA triplet sets had lower mortality rates than other triplet combinations. Outcomes for triplets conceived by ART were similar to those of triplets conceived spontaneously.