This article concerns the power of various data analytic strategies to detect the effect of a single genetic variant (GV) in multivariate data. We simulated exactly fitting monozygotic and dizygotic phenotypic data according to single and two common factor models, and simplex models. We calculated the power to detect the GV in twin 1 data in an ANOVA of phenotypic sum scores, in a MANOVA, and in exploratory factor analysis (EFA), in which the common factors are regressed on the genetic variant. We also report power in the full twin model, and power of the single phenotype ANOVA. The results indicate that (1) if the GV affects all phenotypes, the sum score ANOVA and the EFA are most powerful, while the MANOVA is less powerful. Increasing phenotypic correlations further decreases the power of the MANOVA; and (2) if the GV affects only a subset of the phenotypes, the EFA or the MANOVA are most powerful, while sum score ANOVA is less powerful. In this case, an increase in phenotypic correlations may enhance the power of MANOVA and EFA. If the effect of the GV is modeled directly on the phenotypes in the EFA, the power of the EFA is approximately equal to the power of the MANOVA.

Data on frequency of church attendance have been obtained from separate cohorts of twins and their families from the USA and Australia (29 063 and 20 714 individuals from 5670 and 5615 families, respectively). The United States sample displayed considerably higher frequency of attendance at church services. Sources of family resemblance for this trait also differed between the Australian and US data, but both indicated significant additive genetic and shared environment effects on church attendance, with minor contributions from twin environment, assortative mating and parent–offspring environmental transmission. Principal differences between the populations were in greater maternal environmental effects in the US sample, as opposed to paternal effects in the Australian sample, and smaller shared environment effects observed for both women and men in the US cohort.

Cytokines and vitamin D both have a role in modulating the immune system, and are also potentially useful biomarkers in mental illnesses such as major depressive disorder (MDD) and schizophrenia. Studying the variability of cytokines and vitamin D in a healthy population sample may add to understanding the association between these biomarkers and mental illness. To assess genetic and environmental contributions to variation in circulating levels of cytokines and vitamin D (25-hydroxy vitamin D: 25(OH)D3), we analyzed data from a healthy adolescent twin cohort (mean age 16.2 years; standard deviation 0.25). Plasma cytokine measures were available for 400 individuals (85 MZ, 115 DZ pairs), dried blood spot sample vitamin D measures were available for 378 individuals (70 MZ, 118 DZ pairs). Heritability estimates were moderate but significant for the cytokines transforming growth factor-β1 (TGF-β1), 0.57 (95% CI 0.26–0.80) and tumor necrosis factor-receptor type 1 (TNFR1), 0.50 (95% CI 0.11–0.63) respectively. Measures of 25(OH)D3 were within normal range and heritability was estimated to be high (0.86, 95% CI 0.61–0.94). Assays of other cytokines did not generate meaningful results. These potential biomarkers may be useful in mental illness, with further research warranted in larger sample sizes. They may be particularly important in adolescents with mental illness where diagnostic uncertainty poses a significant clinical challenge.

Twins are prone to developmental delay due to prematurity and low birthweight. However it is unknown if twinning is an independent risk factor for developmental delay. The objective of this study was to compare the attainment of a set of gross motor milestones in a cohort of twins and singletons in The Gambia. Eighty-four pairs of twins and 72 singletons were enrolled at birth and followed up until 18 months of age. The mean age at achieving milestones was higher in twins for each development outcome and the difference between twins and singletons was significant after adjustment for confounders for maintaining head, sitting without support and walking. In twins, we found a highly significant correlation within pairs for most milestones. When monozygotic and dizygotic twins were compared, a significant heritability was observed for crawling, sitting, standing and walking, with over 90% of population variance observed due to genetic factors rather than environmental factors. There was little evidence for a genetic contribution towards very early milestones. In conclusion, our data suggest that twinning is an independent risk factor for developmental delay in early life in The Gambia, and that genetic factors contribute strongly to certain motor development outcomes.

From conception to death, helping relationships promote positive development and enable people to surmount challenges in their lives. Is it the case that the negative consequences of a genetic propensity for risky behaviors can be attenuated by helping relationships (a G × E)? But is it also the case that people with such a genetic propensity are less likely to have helping relationships compared to people without such a propensity (a rGE)? We illustrate this complex pattern of gene–environment interplay by drawing on the National Longitudinal Study of Adolescent Health and a combinatoric analytic strategy. We focus on a gene associated with dopamine receptor type 2 (DRD2 TaqIA), student–mentor relationships, and educational continuation beyond secondary school. Results reveal that, for both white and black males, DRD2 A1+ (A1A1 and A1A2 genotypes) is associated with a decreased likelihood of school continuation compared to their counterparts with DRD2 A1–; mentors who are teachers compensate for this negative association (a G × E); and youth with DRD2 A1+ are less likely to have a mentor who is a teacher than their counterparts with DRD2 A1– (a rGE).

The association between high and low levels of emotional reactivity (ER) as a temperamental trait and the dopamine D4 receptor (DRD4) exon III polymorphism in healthy men aged 18 to 27 (M= 21.03, SD = 2.23) was examined. ER, measured by the Formal Characteristics of Behavior–Temperament Inventory (FCB-TI), is defined as a tendency to react intensively to emotion-generating stimuli and is expressed in high emotional sensitivity and in low emotional endurance. Data analysis demonstrated a statistically significant difference in the distribution of genotypic frequencies between the low and high ER groups: χ2 = 4.88; df = 1; p = .027, odds ratio (OR) =2.85, 95% confidence interval (CI) = 1.11–7.32. An insignificant difference in allele frequencies between the two groups was noted: χ2 = 7.47; df = 3; p = .058; OR = 2.9, 95% CI = 1.29–6.53. These findings suggest a role of the DRD4 exon III polymorphism in the modulation of ER as a temperamental trait. Due to the preliminary nature of our findings, replication is necessary.

This study examined the influence of twin status (monozygotic [MZ], dizygotic same-sex [DZss] and dizygotic opposite-sex [DZos]) on friendship patterns. It examined the friendships of 60 children from 30 twin pairs, mean age 8 years, 4 months. The study sought to establish how number of friendships and degree to which these are shared vary according to twin status. Additionally, it sought to assess the children's meaning of shared friendship and to examine whether there were group differences according to twin status. Results indicated that, while number of friends did not vary, the degree to which friendships were shared was significantly associated with twin status. MZ children shared approximately 50% of their friends, DZss 25% and DZos 5%. Group patterns emerged from interviews with the children concerning shared friendships. MZ twins were characteristically positive or accepting about shared friends; DZos pairs shared fewer friends and were, therefore, less challenged by the twin situation in negotiating friendships; and DZss pairs were more diverse in their reaction with some expressing ambivalent or negative views about the twin situation and sharing of friendship. The results are presented in the light of their implications for twin children's developmental and scholastic progress.

This study examined the genetic and environmental effects on variances in weight, height, and body mass index (BMI) under 18 years in a population-based sample from China. We selected 6,644 monozygotic and 5,969 dizygotic twin pairs from the Chinese National Twin Registry (CNTR) aged under 18 years (n = 12,613). Classic twin analyses with sex limitation were used to estimate the genetic and environmental components of weight, height, and BMI in six age groups. Sex-limitation of genetic and shared environmental effects was observed, especially when puberty begins. Heritability for weight, height, and BMI was low at 0–2 years old (less than 20% for both sexes) but increased over time, accounting for half or more of the variance in the 15–17 year age group for boys. For girls, heritabilities for weight, height and BMI was maintained at approximately 30% after puberty. Common environmental effects on all body measures were high for girls (59–87%) and presented a small peak during puberty. Genetics appear to play an increasingly important role in explaining the variation in weight, height, and BMI from early childhood to late adolescence, particularly in boys. Common environmental factors exert their strongest and most independent influence specifically in the pre-adolescent period and more significantly in girls. These findings emphasize the need to target family and social environmental interventions in early childhood years, especially for females. Further studies about puberty-related genes and social environment are needed to clarify the mechanism of sex differences.

The present article describes the initial steps taken in setting up a twin registry in Spain. The Murcia Twin Registry (MTR) will focus initially on perimenopausal women's health. It will be administered and managed by the University of Murcia and the Murcia Health Council and will start with a database of 452 pairs of female twins born between 1940 and 1965 in the region of Murcia, Spain. Once the MTR is established and has gained some experience, our goal is to expand the age range and include males and opposite-sex twins. The current main areas of research interest are menopause, preventive behaviors, lifestyle and health as well as quality of life.

Human populations living during the Holocene underwent considerable microevolutionary change. It has been theorized that the transition of Holocene populations into agrarianism and urbanization brought about culture-gene co-evolution that favored via directional selection genetic variants associated with higher general cognitive ability (GCA). To examine whether GCA might have risen during the Holocene, we compare a sample of 99 ancient Eurasian genomes (ranging from 4.56 to 1.21 kyr BP) with a sample of 503 modern European genomes (Fst = 0.013), using three different cognitive polygenic scores (130 SNP, 9 SNP and 11 SNP). Significant differences favoring the modern genomes were found for all three polygenic scores (odds ratios = 0.92, p = 001; .81, p = 037; and .81, p = .02 respectively). These polygenic scores also outperformed the majority of scores assembled from random SNPs generated via a Monte Carlo model (between 76.4% and 84.6%). Furthermore, an indication of increasing positive allele count over 3.25 kyr was found using a subsample of 66 ancient genomes (r = 0.22, pone-tailed = .04). These observations are consistent with the expectation that GCA rose during the Holocene.

Shorter telomere length (TL) has found to be associated with lower birth weight and with lower cognitive ability and psychiatric disorders. However, the direction of causation of these associations and the extent to which they are genetically or environmentally mediated are unclear. Within-pair comparisons of monozygotic (MZ) and dizygotic (DZ) twins can throw light on these questions. We investigated correlations of within pair differences in telomere length, IQ, and anxiety/depression in an initial sample from Brisbane (242 MZ pairs, 245 DZ same sex (DZSS) pairs) and in replication samples from Amsterdam (514 MZ pairs, 233 DZSS pairs) and Melbourne (19 pairs selected for extreme high or low birth weight difference). Intra-pair differences of birth weight and telomere length were significantly correlated in MZ twins, but not in DZSS twins. Greater intra-pair differences of telomere length were observed in the 10% of MZ twins with the greatest difference in birth weight compared to the bottom 90% in both samples and also in the Melbourne sample. Intra-pair differences of telomere length and IQ, but not of TL and anxiety/depression, were correlated in MZ twins, and to a smaller extent in DZSS twins. Our findings suggest that the same prenatal effects that reduce birth weight also influence telomere length in MZ twins. The association between telomere length and IQ is partly driven by the same prenatal effects that decrease birth weight.

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

The aim of this study was to investigate the reliability of obtaining through mailed surveys maternal reports of specific major motor milestones achievement. To accomplish this aim we compared and contrasted mailed survey data and telephone interview data on a series of questions about age at which motor milestones were achieved. We used monthly telephone interviews with mothers of 238 twin pairs, beginning at age 6 months, which ascertained the age at which each specific milestone was met. The contrasting ‘through the mail’ survey was sent after the second birthday of an independent group of children, and included 463 twin pairs. All twins were born between March 2003 and March 2004. Comparisons were made for the following 5 milestones: sitting without support, hands and knees crawling, turning from back to belly, standing without support, and walking without support. There was no difference between the concurrent telephone interviews and the retrospective through the mail survey on any of the landmarks, except ‘standing without support’. From this work we conclude that data on achieving milestones can be reliably obtained through the mail using retrospective surveys when the children are 2 years of age.

The aim of the 25 and Up (25Up) study was to assess a wide range of psychological and behavioral risk factors behind mental illness in a large cohort of Australian twins and their non-twin siblings. Participants had already been studied longitudinally from the age of 12 and most recently in the 19Up study (mean age = 26.1 years, SD = 4.1, range = 20–39). This subsequent wave follows up these twins several years later in life (mean age = 29.7 years, SD = 2.2, range =  22–44). The resulting data set enables additional detailed investigations of genetic pathways underlying psychiatric illnesses in the Brisbane Longitudinal Twin Study (BLTS). Data were collected between 2016 and 2018 from 2540 twins and their non-twin siblings (59% female, including 341 monozygotic complete twin-pairs, 415 dizygotic complete pairs and 1028 non-twin siblings and singletons). Participants were from South-East Queensland, Australia, and the sample was of predominantly European ancestry. The 25Up study collected information on 20 different mental disorders, including depression, anxiety, substance use, psychosis, bipolar and attention-deficit hyper-activity disorder, as well as general demographic information such as occupation, education level, number of children, self-perceived IQ and household environment. In this article, we describe the prevalence, comorbidities and age of onset for all 20 examined disorders. The 25Up study also assessed general and physical health, including physical activity, sleep patterns, eating behaviors, baldness, acne, migraines and allergies, as well as psychosocial items such as suicidality, perceived stress, loneliness, aggression, sleep–wake cycle, sexual identity and preferences, technology and internet use, traumatic life events, gambling and cyberbullying. In addition, 25Up assessed female health traits such as morning sickness, breastfeeding and endometriosis. Furthermore, given that the 25Up study is an extension of previous BLTS studies, 86% of participants have already been genotyped. This rich resource will enable the assessment of epidemiological risk factors, as well as the heritability and genetic correlations of mental conditions.

Hallux valgus (HV) is a common foot deformity of multifactorial etiology, but knowledge about the relative importance of genetics and environments on HV has been limited. In order to estimate genetic influences on HV, 1,265 adults, including 175 monozygotic twin (MZ) pairs, 31 dizygotic twin (DZ) pairs, and 853 first-degree singleton family members of the twins were included from the Healthy Twin study, a population-based twin-family cohort in Korea. All participants underwent foot examination and weight-bearing radiographic assessment (anterior-posterior and lateral) in addition to a general health survey. Of the subjects, 208 (16.4%) were classified as HV (as HV angle >20°). The genetic influence on HV was estimated to be substantial; the heritability of HV was 0.51 (95% CI 0.42–0.59) and the heritability of HV angle was 0.47 (0.38–0.56), while contributions from shared environmental effects were negligible. These findings suggest that genetic factors play an important role in determining HV deformity.

Diagnosis of a major depressive episode by the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association requires 5 out of 9 symptoms to be present. Therefore, individuals may differ in the specific symptoms they experience and reach a diagnosis of depression via different pathways. It has been suggested that depressed women more often report symptoms of sleep disturbance, appetite or weight disturbance, fatigue, feelings of guilt/worthlessness and psychomotor retardation than depressed men. In the current study, we investigate whether depressed men and women differ in the symptoms they report. Two samples were selected from a sample of Dutch and Australian twins and siblings. First, Dutch and Australian unrelated depressed individuals were selected. Second, a matched epidemiological sample was created consisting of opposite-sex twin and sibling pairs in which both members were depressed. No sex differences in prevalence rates for symptoms were found, with the exception of decreased weight in women in the sample of unrelated individuals. In general, the similarities in symptoms seem to far outweigh the differences in symptoms between men and women. This signifies that men and women are alike in their symptom profiles for major depression and genes for depression are probably expressed in the same way in the two sexes.

The Duke Twins Study of Memory in Aging is an ongoing, longitudinal study of cognitive change and dementia in the population-based National Academy of Sciences-National Research Council (NAS-NRC) Twin Registry of World War II Male Veterans. The primary goal of this study has been to estimate the overall genetic and environmental contributions to dementia with a specific focus on Alzheimer's disease. An additional goal has been to examine specific genetic and environmental antecedents of cognitive decline and dementia. Since 1989, we have completed 4 waves of data collection. Each wave included a 2-phase telephone cognitive screening protocol, followed by an in-home standardized clinical assessment for those with suspected dementia. For many participants, we have obtained postmortem neuro-pathological confirmation of the diagnosis of dementia. In addition to data on cognition, we have also collected information on occupational history, medical history, medications and other lifetime experiences that may influence cognitive function in late life. We provide an overview of the study's methodology and describe the focus of recent research.

This article is concerned with the power to detect the presence of genotype by environment interaction (G × E) in the case that both genes and environment feature as latent (i.e., unmeasured) variables. The power of the test proposed by Jinks and Fulker (1970), which is based on regressing the absolute difference between the scores of monozygotic twins on the sums of these scores, is compared to the power of an alternative test, which is based on Marginal Maximum Likelihood (MML). Simulation studies showed that generally the power of the MML-based test was greater than the power of the Jinks and Fulker test in detecting linear and curvilinear G × E interaction, regardless of whether the distribution of the data deviated significantly from normality. However, after a normalizing transformation, the Jinks and Fulker test performed slightly better. Some possible future extensions of the MML-based test are briefly discussed.

The Georgia Cardiovascular Twin Study is a longitudinal study of biobehavioral antecedents of cardiovascular disease in youth. It includes roughly equal numbers of African Americans and European Americans, with a total of > 500 twin pairs. Focus of the study is the change in relative influence of genetic and environmental factors on development of risk factors for cardiovascular disease. Future work will explore the influence of polymorphic variation in candidate genes and their potential interaction with the environment on these risk factors.

Lummaa et al. (2007) presented historical data collected from twins born in Finland between 1734 and 1888 which suggested that females (N = 31) born as part of an opposite sex (OS) twin pair were 25% less likely to reproduce than female twins (N = 35) born as part of a same sex (SS) pair. They hypothesized that this reduction in fitness was due to masculinization of the female fetus via prenatal effects of the hormones of a male fetus. Because such masculinization would presumably take place in modern populations as well, it would seem important to establish to what degree it does so, and if so, whether reproduction is affected. We therefore address the question of reproduction differences in individual female twins from same-sex (N = 1979) and opposite-sex (N = 913) dizygotic pairs in studies carried out in Australia, the Netherlands, and the United States. In all three samples, there were no differences in the number of children or age of first pregnancies in women from same sex pairs compared to those from opposite sex pairs. Similarly, there were no differences in psychological femininity between women from pairs of the same or opposite sex.