The Barker hypothesis states that low birth weight (BW) is associated with higher risk of adult onset diseases, including mental disorders like schizophrenia, major depressive disorder (MDD), and attention deficit hyperactivity disorder (ADHD). The main criticism of this hypothesis is that evidence for it comes from observational studies. Specifically, observational evidence does not suffice for inferring causality, because the associations might reflect the effects of confounders. Mendelian randomization (MR) — a novel method that tests causality on the basis of genetic data — creates the unprecedented opportunity to probe the causality in the association between BW and mental disorders in observation studies. We used MR and summary statistics from recent large genome-wide association studies to test whether the association between BW and MDD, schizophrenia and ADHD is causal. We employed the inverse variance weighted (IVW) method in conjunction with several other approaches that are robust to possible assumption violations. MR-Egger was used to rule out horizontal pleiotropy. IVW showed that the association between BW and MDD, schizophrenia and ADHD is not causal (all p > .05). The results of all the other MR methods were similar and highly consistent. MR-Egger provided no evidence for pleiotropic effects biasing the estimates of the effects of BW on MDD (intercept = -0.004, SE = 0.005, p = .372), schizophrenia (intercept = 0.003, SE = 0.01, p = .769), or ADHD (intercept = 0.009, SE = 0.01, p = .357). Based on the current evidence, we refute the Barker hypothesis concerning the fetal origins of adult mental disorders. The discrepancy between our results and the results from observational studies may be explained by the effects of confounders in the observational studies, or by the existence of a small causal effect not detected in our study due to weak instruments. Our power analyses suggested that the upper bound for a potential causal effect of BW on mental disorders would likely not exceed an odds ratio of 1.2.

Using the continuous parameter estimation model (CPEM), a large genotyped adult sample of the population of Wisconsin, USA (the Wisconsin Longitudinal Study) is examined for evidence of the Scarr–Rowe effect, a gene × environment (G×E) interaction that reduces the heritability of IQ among those with low socioeconomic status (SES). This method allows the differential expressivity of polygenic scores predictive of both educational attainment and IQ (EA3) on the phenotype of IQ to be directly operationalized throughout the full range of these variables. Utilizing a parental SES factor-weighted composite as a measure of childhood SES, evidence for the Scarr–Rowe effect was found, that is, the genetic expressivity of EA3 on IQ increased with increasing parental SES (β = 0.08, p = 4.71×10−10, df = 6,255). The effect was found for both the male and female samples separately, β(males) = 0.08, p = 5.27×10−5, df = 3,018; β(females) = 0.08, p = 1.93×10−6, df = 3,236. The effects were furthermore robust to removing outlying values of parental SES and to log-transforming the SES variable. The results are similar to those produced using a more conventional two-way interaction model, with IQ predicting the EA3 × log of parental SES interaction after the main effects; however, CPEM allows for greater model degrees of freedom, thus is better powered to detect the effect when it is small in magnitude (CPEM β = 0.05, p = 6.69×10−5 vs. two-way interaction β = 0.02, pone-tailed = .045, in both models log parental SES is used).

The aim of this study was to examine the effects of genetic and environment influences and sex on injury involvement using two sets of Finnish twin data. The younger participants were 955 twins born between 1983 and 1987, aged 20 to 24 years. The older participants were 12,428 twins born between 1930 and 1957, aged 33 to 60 years. Within-twin correlations in monozygotic and dizygotic twins suggested that genetic effects play no role in injury involvement among young twins, but do have some effect at older ages. The results indicated that environmental factors have greater importance in injury involvement than genetic factors in the younger twin data set (FT12), whereas in a middle-aged (33–60 years) twin data set, genetic effects explained about quarter of the variance in injury involvement. Sex was a strong contributing factor, with males being generally more prone to injuries than females.

Major depression is a complex disorder with no single, direct causal mechanism. Morbidity has been linked to genetic processes, developmental history, and unique environmental exposures. Epigenetic mechanisms, especially DNA methylation, are also likely important factors in the pathogenesis of major depressive disorder (MDD). A community-based twin sample has many advantages for epigenetic studies, given the shared genetic and developmental histories of same-sex twin pairs. This article describes the rationale and study design for the Mood and Methylation Study in which 133 twin pairs (101 monozygotic and 32 dizygotic), both discordant and concordant for lifetime history of MDD, were evaluated on a large number of variables related to MDD. The twins also provided blood samples for an epigenome-wide association study of differentially methylated regions (DMR) relevant to MDD. Although MDD is typically considered a disorder of the central nervous system, it is unfeasible to obtain a large sample of brain tissues. However, epigenetic variation is not limited to the affected tissue but can also be detected in peripheral blood leukocytes. Thus, this study focused on monocytes for the major analyses. Additional plans for the study include gene expression analysis from the same set of twins using RNA-seq and validation of significant DMRs in postmortem brain tissues from a separate sample. Moreover, sufficient samples have been collected to perform future ‘multi-omic’ analyses, including metabolome, microbiome, and transcriptome. Our long-term goal is to understand how epigenomic and other ‘omic’ factors can be manipulated for diagnostic, preventive, and therapeutic purposes for MDD and its related conditions.

The system of mating that maintains a general genotypic distribution among females with respect to an X-linked locus is defined. In particular, it is shown that Hardy–Weinberg proportions can be maintained with non-random mating.

According to the Sasang theory, humans can be categorized into one of the four Sasang constitution (SC) types. The four SC types are Tae-Yang (TY), Tae-Eum (TE), So-Yang (SY), and So-Eum (SE), which are determined mainly on the basis of anthropometric characteristics, personality, and the balance of the physiological functions of the major organ systems. There is a growing recognition in the complementary and alternative medicine area that SC types have the potential to be a useful scientific tool for the prevention, diagnosis, and treatment of diseases (Cooper, Evidence Based Complementary and Alternative Medicine, Vol. 6 (Suppl. 1), 2009, pp. 1–3). The main purposes of the present study are to estimate genetic and environmental influences on SC types, and to explore genetic and environmental correlations that affect phenotypic associations among the SC types. In total, 1,742 (365 monozygotic male, 173 dizygotic male, 675 monozygotic female, 271 dizygotic female, and 258 opposite-sex dizygotic) twins (mean age = 19.1 ± 3.1 year) completed a Sasang questionnaire. Univariate and multivariate model-fitting analyses were performed. Total (additive and non-additive) genetic influences were 71% for males and 81% for females in TE, 70% for males and 71% for females in SE, and 47% for both sexes in SY. Non-additive genetic effects were substantial, and shared environmental influences were negligible in most SC types. Multivariate model-fitting analysis revealed that non-additive genetic and individual-specific environmental correlations between TE and SE were -0.92 (95% CI [-0.89, -0.93]) and -0.62 (95% CI [-0.57, -0.68]), respectively. The corresponding estimates were -0.55 (95% CI [-0.48, -0.61]) and -0.44 (95% CI [-0.37, -0.51]) between TE and SY and 0.19 (95% CI [0.09, 0.29]) and -0.40 (95% CI [-0.32, -0.47]) between SE and SY. These results suggest that the phenotypic associations among SC types may be mediated by pleiotropic mechanism of genes.

The giant panda, native to mountains of south-west China, is one of the world's rarest bear species and is subject to considerable conservation effort. In captivity, the proportion of twins accounts for 54% of the total number of births. To date, little is known about zygosity in panda populations — specifically, the proportion of monozygotic and dizygotic twins. In this study, we used 10 microsatellite markers for reliable zygosity testing, and the probability of monozygotic twins was 99.963% when all 10 markers were concordant. Out of 43 studied twin pairs, no MZ twins were found, indicating that there may be no identical panda twins (or the incidence is very low). We speculate that the fertilized eggs of giant pandas do not have the capability to split into two identical embryos, or that this ability is very poor, which is likely due to delayed implantation that is common in bear species. The results of this study deepen our understanding of giant panda breeding, yield insight into panda twins’ likely mechanism of formation, and reduce the uncertainty of individual identity in wild population surveys.

The expansion of genetic and genomic testing in clinical practice and research and the growing market for at home personal genome testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry standard that was updated in late 2016. In 2018, the Human Genetics Society of Australasia updated its position statement on genetic testing and life insurance to account for these changes and to increase the scope of the statement to include a wider scope of insurance products that are not rated according to community risk, such as life, critical care, and income protection products. Recommendations include that providers of professional education involving genetics should include ethical, legal, and social aspects of insurance discrimination in their curricula; that the Australian government take a more active role in regulating use of genetic information in personal insurance, including enacting a moratorium on use of genetic test results; that information obtained in the course of a research project be excluded; and that there is improved engagement between the insurance industry, regulators, and the genetics profession.

Lam et al. (2018) respond to a commentary of their paper entitled ‘Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets’ Lam et al. (2017). While Lam et al. (2018) have now provided the recommended quality control metrics for their paper, problems remain. Specifically, Lam et al. (2018) do not dispute that the results of their multi-trait analysis of genome-wide association study (MTAG) analysis has produced a phenotype with a genetic correlation of one with three measures of education, but do claim the associations found are specific to the trait of cognitive ability. In this brief paper, it is empirically demonstrated that the phenotype derived by Lam et al. (2017) is more genetically similar to education than cognitive ability. In addition, it is shown that of the genome-wide significant loci identified by Lam et al. (2017) are loci that are associated with education rather than with cognitive ability.

Monochorionic twins, resulting from a single fertilized egg giving rise to two separate embryos, are monozygotic and considered genetically identical. However, discordant phenotypes have been reported in monozygotic twins. We analyzed a retrospective cohort of 155 monochorionic pregnancies (312 twins) with major discordant structural anomalies coded by the ICD-10 system in order to describe the spectrum of anomalies, the management of the pregnancies, and the perinatal outcome. Treatment options included conservative management, selective feticide with bipolar cord coagulation, or complete termination. All survivors underwent at least 24 months of postnatal follow-up. Discordancy was complicated by twin-to-twin transfusion syndrome in eight pregnancies (5%) and by selective intrauterine growth restriction in 41 (26%). Major structural anomalies affected one system in 139 cases (90%) and multiple systems in 16 (10%). Median gestational age at diagnosis was 19.1 weeks (IQR 16.4–21.3). The most frequent single-system anomalies involved the nervous and circulatory systems. In total, 72 anomalous twins (46%) and 116 normal co-twins (74%) were delivered at a median gestational age of 34.6 weeks (IQR 31.0–36.3). Neonatal/infant death of the anomalous twin occurred in 22 cases (14%), with an overall survival rate of 32% (50/155). Surviving anomalous twins underwent major surgery in 22/50 cases (44%), four of whom (8%) now suffer from severe neurologic morbidity. This study shows that a wide spectrum of major discordant structural anomalies can be found in monochorionic pregnancies. The outcome for the anomalous twin is poor, while the survival rate for the normal co-twin was 71%, with a favorable overall prognosis.

Perinatal mortality is higher in twins. Effects of twin order have not previously been studied in the context of single fetal demise. Our objective was to determine whether death of the fetus more proximal to the cervix will result in worse perinatal outcomes. Our population included multiple pregnancies with two viable fetuses confirmed prior to 20 weeks’ gestation with the subsequent death of at least one twin. All the pregnancies were managed at The Royal Women's Hospital, Melbourne between 2006 and 2014. We excluded pregnancies of higher order multiples, the death of both twins simultaneously, and cases with incomplete outcome data. Maternal and neonatal data were reviewed. Of 46 pregnancies included, in 24 (52%), the dead twin was presenting. Gestational age at delivery was significantly earlier in these cases (mean difference: -5.0 weeks, 95% CI [-7.4, -2.6], p < .001), and emergency cesarean rates were higher 67% versus 32% (OR 4.29, 95% CI [1.25, 14.7], p = .02). There were no differences in the frequency of chorioamnionitis, preterm prelabor rupture of membranes, or placental abruption. Survival rates for co-twins were similar in both groups (presenting 83%; not presenting 91%; OR 0.41, 95% CI [0.07, 2.50], p = .29). The increase in neonatal morbidities was related to prematurity rather than to order. Findings were more common in dichorionic twins. Analysis was limited by a small sample size. If the dead twin is presenting, delivery is likely to occur earlier, with associated morbidity for the survivors. This is especially relevant for dichorionic twin pregnancies.

Twin research has found genetic influence underlying vocational interests, work values, and job satisfaction. In addition, numerous studies have shown that monozygotic (MZ) twins generally display greater within-pair cooperation and social closeness than dizygotic (DZ) twins. These findings are illuminated by exploring the occupational histories of two female twin pairs, one set MZ and the other set DZ. This is followed by a review of timely twin-based research reports on molar pregnancy, social support, conjoined twinning, and immune discordance. Finally, news items regarding identical twin politicians, multiple birth marriages, a new Guinness World Record for twins, and a twin-family story from the Museum of Memory and Human Rights in Santiago, Chile are both interesting and informative.