We compare the power of two different approaches to detect passive genotype–environment (GE) covariance originating from cultural and genetic transmission operating simultaneously. In the traditional nuclear twin family (NTF) design, cultural transmission is estimated from the phenotypic covariance matrices of the mono- and dizygotic twins and their parents. Here, phenotyping is required in all family members. A more recent method is the transmitted–nontransmitted (T–NT) allele design, which exploits measured genetic variants in parents and offspring to test for effects of nontransmitted alleles from parents. This design requires two-generation genome-wide data and a powerful genome-wide association study (GWAS) for the phenotype in addition to phenotyping in offspring. We compared the power of both designs. Using exact data simulation, we demonstrate three points: how the power of the T–NT design depends on the predictive power of polygenic risk scores (PRSs); that when the NTF design can be applied, its power to detect cultural transmission and GE covariance is high relative to T–NT; and that, given effect sizes from contemporary GWAS, adding PRSs to the NTF design does not yield an appreciable increase in the power to detect cultural transmission. However, it may be difficult to collect phenotypes of parents and the possible importance of gene × age interaction, and secular generational effects can cause complications for many important phenotypes. The T–NT design avoids these complications.

Previous genetic studies on hair morphology focused on the overall morphology of the hair using data collected by self-report or researcher observation. Here, we present the first genome-wide association study (GWAS) of a micro-level quantitative measure of hair curvature. We compare these results to GWAS results obtained using a macro-level classification of observable hair curvature performed in the same sample of twins and siblings of European descent. Observational data were collected by trained observers, while quantitative data were acquired using an Optical Fibre Diameter Analyser (OFDA). The GWAS for both the observational and quantitative measures of hair curvature resulted in genome-wide significant signals at chromosome 1q21.3 close to the trichohyalin (TCHH) gene, previously shown to harbor variants associated with straight hair morphology in Europeans. All genetic variants reaching genome-wide significance for both GWAS (quantitative measure lead single-nucleotide polymorphism [SNP] rs12130862, p = 9.5 × 10–09; observational measure lead SNP rs11803731, p = 2.1 × 10–17) were in moderate to very high linkage disequilibrium (LD) with each other (minimum r2 = .45), indicating they represent the same genetic locus. Conditional analyses confirmed the presence of only one signal associated with each measure at this locus. Results from the quantitative measures reconfirmed the accuracy of observational measures.

Defective color vision comes in various forms and its frequency varies from population to population. This article is concerned with only the sex-linked form of essential hereditary color blindness. A model of a ‘small’ population is constructed to explore the dynamics of occurrence of color blindness. Different mutation rates are introduced for eggs and sperm. Birth and death rates of affected individuals are assumed to be the same as those in the unaffected. Simulation demonstrates that large changes in frequency occur randomly from the combined effects of mutation, transmission of genes from generation to generation and births and deaths. A reference is made to the hypothesis that observed differences in rates are due to selection in the transition from hunter-gatherer to farmer.

We explored the genetic architecture of metabolic risk factors of cardiovascular diseases (CVDs) and their clustering in Chinese boys and girls. Seven metabolic traits (body mass index [BMI], waist circumference [WC], systolic blood pressure [SBP], diastolic blood pressure [DBP], total cholesterol [TC], triglyceride [TG], and uric acid [UA]) were measured in a sample of 1016 twins between 8 and 17 years of age, recruited from the Qingdao Twin Registry. Cholesky, independent pathway, and common pathway models were used to identify the latent genetic structure behind the clustering of these metabolic traits. Genetic architecture of these metabolic traits was largely similar in boys and girls. The highest heritability was found for BMI (a2 = 0.63) in boys and TC (a2 = .69) in girls. Three heritable factors, adiposity (BMI and WC), blood pressure (SBP and DBP), and metabolite factors (TC, TG, and UA), which formed one higher-order latent phenotype, were identified. Latent genetic, common environmental, and unique environmental factors indirectly impacted the three factors through one single latent factor. Our results suggest that there is one latent factor influencing several metabolic traits, which are known risk factors of CVDs in young Chinese twins. Latent genetic, common environmental, and unique environmental factors indirectly imposed on them. These results inform strategies for gene pleiotropic discovery and intervening of CVD risk factors during childhood and adolescence.

We aimed to investigate whether the alterations of time intervals and velocity–time integrals (VTIs) of ductus venosus (DV) Doppler flow could predict evolving twin-to-twin transfusion syndrome (TTTS) in monochorionic diamniotic (MD) twin pregnancies in the second trimester. DV Doppler waveforms of MD twin pregnancies were retrospectively analyzed. Time intervals and VTIs of the accelerating phase of S-wave (S1 and VTI-1), decelerating phase of S-wave (S2 and VTI-2) and phase of D-wave (D and VTI-diast) were measured in the recipient twins of TTTS and the larger twins of uncomplicated MD twins. Each parameter was normalized to total time intervals and VTIs. DV parameters of prerecipient twins in pre-TTTS conditions were analyzed. The pre-TTTS condition was defined as the condition within 2 weeks before when TTTS cases fulfilled the criteria. Both recipient twins in TTTS cases and prerecipient twins in pre-TTTS condition showed significantly shorter S1, longer S2, shorter D, smaller VTI-1, larger VTI-2 and smaller VTI-diast than did the larger twins in uncomplicated MD twins (p < .05). Receiver-operating characteristic curve analysis showed that VTI-2 had better performance, and VTI-2 >45.5% had 87.0% sensitivity, 90.9% specificity, 81.0% positive predictive value and 93.0% negative predictive value for detecting prerecipient twins. Recipient twins complicated with TTTS have characteristic alterations in time intervals and VTIs of DV Doppler flow, which is present even before fulfilling the TTTS criteria. Furthermore, VTI-2 >45.5% is a possible predictive parameter for TTTS in the second trimester.

A brief account is given by E. M. Nicholls, M.D., of the formation and demise of the School of Human Genetics of the University of New South Wales.

A brief review of research findings regarding twins living apart is presented. This review is followed by a look into the lives of a pair of monozygotic male twins who have lived in different continents for many years, but who stay closely connected. The reasons behind their decision and its impact on their behavioral resemblance and social relationship quality are examined. The next section summarizes recent studies that address the management of monochorionic-diamniotic twin pregnancies, paternity testing in multiple pregnancies, trisomies in twin pregnancies and the roots of resilience. The final portion of this article presents human-interest stories involving reunited Brazilian twins, a new resource for twins with disabled co-twins, twins separated in the Secret of the Nile television series, a new book about Dr Josef Mengele and his horrific twin experiments conducted at the Auschwitz–Birkenau concentration camp, and a pair of twins dedicated to helping others.