The dynamics of rare X-linked recessive traits is explored by simulation. The model follows the prevalence of affected males and carrier females as separate but correlated variables. Different mutation rates and selection coefficients are introduced for males and females. A virtual population based on a published study of hemophilia B in the west of Scotland is followed at weekly intervals over many years. Speculative values of critical parameters to mimic the real population are proposed.

This article describes the Australian Twins Economic Preferences Survey (ATEPS). The data set comprises a wide variety of preference and behavioral measures (risk aversion, impatience, ambiguity aversion, trust, confidence) elicited using incentivized decision tasks. One-thousand one-hundred twenty Australian adult twins (560 pairs) completed the survey, making it one of the largest data sets containing incentivized preference measures of twins. As the survey was conducted during the COVID-19 pandemic, we also collected information on experiences related to the pandemic, along with a variety of questions on political attitudes and mental wellbeing. We hope that ATEPS can make a valuable contribution to social science and genetics research.

Life history theory studies the evolution of traits related to reproductive fitness. Fertility and parental investment are key life history traits which, from an evolutionary standpoint, appear strongly interrelated. The aim of this work was to analyze the genetic and environmental structure and relationship of two behaviors associated with reproductive fitness: total number of offspring and mean duration of breastfeeding. A total of 1,347 women distributed in 239 monozygotic pairs, 236 dizygotic pairs, and 393 individual twins from opposite sex pairs provided information about their reproductive history. We conducted separate univariate analyses to study the sources of variance of both variables; and a bivariate analysis, with threshold liability models. The sources of variance for number of children and breastfeeding were best explained by a model including familial and unique environmental factors, being E = 0.54 (CI 95%: 0.44, 0.66) and E = 0.46 (CI 95%: 0.34, 0.61), respectively. The phenotypic correlation between number of children and breastfeeding was low but significant (r = 0.16, CI 95%: 0.07, 0.25). Familial correlation between these variables did not reach significance, but unique environmental correlation did (re = 0.20, CI 95%: 0.02, 0.37). In conclusion, results do not support the existence of a clear common structure for the number of children a woman has and the time she spends breastfeeding them, at least in modern societies. The relationship found was mainly due to unique environmental factors. More research on these and related phenotypes is needed to better understand women's reproductive decisions and how natural selection acts on the life history traits.

TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country’s population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.

It has been suggested that impairment of placental perfusion prior to delivery may manifest in early postnatal increase of creatinine values. We hypothesized that the smaller of a discordant set of twins would have a higher initial plasma creatinine value and decided to measure early plasma creatinine levels in discordant twins in order to evaluate whether this value may serve as an index of impaired placental perfusion. Plasma creatinine, urea nitrogen and blood hematocrit values were simultaneously measured in 35 sets of twins during the first day of life. The sets of twins were divided into 2 groups according to birth weight difference. Thus, 18 sets of discordant twins with birth weight difference greater than 15% comprised the GT group and 17 sets of twins with birth weight difference less than or equal to 15% comprised the LE group. The differences between the values obtained within each group were analyzed using the Wilcoxon Signed Rank test. In the GT group the mean plasma creatinine level of the smaller twins was significantly higher than the level of the larger ones (p = 0.03), but there was no statistically significant difference between values obtained in twins of the LE group. The mean plasma urea level was higher in the larger twins of both groups, however only the difference in the GT group was statistically significant (p = 0.01). The mean hematocrit of the smaller twins was higher in both groups, but only the difference in the LE group was statistically significant (p = 0.02). Generally, there was a negative correlation between gestational age and early creatinine values. These results apparently support the notion that prenatal exposure to impaired placental perfusion may compromise the creatinine clearance of the fetus and result in higher early creatinine values. Since the creatinine values in our growth-retarded twins were within the normal range, no distinguishing line for evidence of a uterine-placental compromise could be drawn. Whether a certain early plasma creatinine value is suggestive or indicative of an intra-uterine hypoxic-ischemic insult, should be determined by documented instances of severe fetal compromise prior to delivery.

Using vital statistics, yearly changes in the twinning and triplet rates by zygosity were investigated in the Czech Republic and the Slovak Republic during the period 1972–1995. Monozygotic (MZ) twinning rates in both countries had remained nearly constant (about 3 per 1000 total births) during that period. With a few exceptions, the dizygotic (DZ) twinning rates remained constant from 1972 to 1994, and increased in 1995 for both countries. MZ twinning rates for both countries were the lowest in Europe. As for triplet rates, overall rates increased significantly year by year in the Czech Republic, but not in the Slovak Republic. The triplet rate was significantly higher in 1995 than in the period 1972–1982 for both countries. The MZ triplet rate remained constant during that period in the Czech Republic. The trizygotic (TZ) triplet rates increased 3-fold for the Czech Republic and 4-fold for the Slovak Republic in 1972–1976 and 1992–1995. In the later period, the TZ rate was 1.5-fold higher in the Czech Republic than in the Slovak Republic. The quadruplet rate increased 2.3-fold from 2.9 per million births in 1982–1986 to 6.7 in 1992–1995 in the Czech Republic. The corresponding values were 2.7, 2.20 and 5.9-fold in the Slovak Republic. Both the Czech and the Slovak Republics were not affected by fertility drugs and assisted reproductive techniques until recently.

There is considerable evidence for a unitary and dimensional view of the genetic vulnerability to symptoms of anxiety and depression. The GENESiS (Genetic Environmental–Nature of Emotional States in Siblings) Study aims to use a multivariate approach to detect genetic loci that contribute to individual differences in this vulnerability dimension. The study used the UK General Practice Research Framework to generate a community-based sample of siblings. Questionnaire measures of anxiety/depression included the short form of the neuroticism scale from the revised Eysenck Personality Questionnaire (EPQ-N), the General Health Questionnaire (GHQ-12), and the anxious arousal and high positive affect subscales from the Mood and Anxiety Symptoms Questionnaire (MASQ-AA and MASQ-HPA). Genetic model-fitting of 2658 unselected sibships provided evidence for a single common genetic (familial) factor that accounted for a substantial proportion of the genetic variances and covariances of these four measures. Using the parameter estimates of this model, we constructed a composite index of this common genetic factor. This index, which has a sib correlation of 0.22, will be used as a quantitative phenotype in the molecular genetic phase of GENESiS. Twin Research (2000) 3, 316–322.

The goals, prospects and methods of the Prospective Twin Registry in Southwestern China (TRiSC) are described. The aim of this study is to measure children's behavioral development and psychopathology from phenotypic, genetic and environmental perspectives. It focuses on measuring children's behavior and psychopathology from child self-reports, as well as parental and teacher informant reports, and relating it to the children's general cognitive abilities, and to the parenting style in the family. Other variables of interest such as children's temperament and parental health status are discussed, as well as plans for further research.

This article explores some rare sides of twin research. The focus of this article is the sad plight of the Dionne quintuplets, born in Canada in 1934. However, several other studies belong in this category, such as Dr Josef Mengele’s horrifying twin research conducted at the Auschwitz concentration camp, Dr John Money’s misguided attempt to turn an accidentally castrated male twin into a female, Russian scientists’ cruel medical study of conjoined female twins and Dr Peter Neubauer’s secret project that tracked the development of separated twins. Reviews of current twin research span twins’ representation of self-image, twins with Kleine–Levin Syndrome, heteropaternal twinning in lemurs and factors affecting risk of dental caries. Media coverage includes a pair of high-society models, a book about the ‘Winkelevii’ twins, Super Bowl twin teammates, a family with three sets of fraternal twins, a twin sister surrogate and a near presidential twin.

A twin study of infant attachment security at age 24 months was conducted on archival data for a sample of 99 MZ pairs and 108 DZ pairs from the Louisville Twin Study. MZ concordance for attachment was 62.6%, which was significantly greater than the DZ concordance of 44.4%. Concordances were transformed into polychoric correlations, and LISREL was used to conduct a quantitative genetic analysis of the data. Results indicated that 25% of the variability in attachment was attributable to genetic factors, and the remaining 75% was attributable to non-shared environmental effects. No evidence was found for a contribution from shared environmental influences to attachment security. Possible concerns about the validity of twin methodology are addressed and various interpretations of the results are presented. Twin Research (2000) 3, 242–250.

Twin reversed arterial perfusion (TRAP) sequence is a rare anomaly in 1% of monochorionic twin pregnancies. Few TRAP sequence cases have a rudimentary heart with cardiac motion in the acardiac twins. Herein, we investigated the venous Doppler waveform in two cases of TRAP sequence with a rudimentary heart with cardiac motion in the acardiac twin. Although both cases had veno-venous anastomoses, the venous Doppler waveforms of the umbilical vein differed. A comparison of the characteristics of the cases indicated that the existence of a ductus venosus, or greater heart pulse power, in the acardiac twin might impact the venous Doppler waveform in the pump twin.

A high prevalence of asthma has been documented among the inhabitants of Tristan da Cunha, an isolated island in the South Atlantic. The population derives from just 28 founders. We performed lung function testing, including methacholine inhalation challenge, allergen skin prick testing, and collected DNA from essentially all of the current island population (269 individuals), and genotyped a panel of 43 single-nucleotide polymorphisms (SNPs) reported as associated with asthma and atopy. We carried out a mixed-model association analysis using the known pedigree. There were 96 individuals diagnosed as asthmatic (36%), and heritability estimates were similar to those from nonisolated population samples (multifactorial threshold model, h2 = 48%). The first component from a genetic principal components analysis using the entire SNP panel was nonlinearly associated with asthma, with the maximum risk to those intermediate to reference (Human Genome Diversity Project) European and African samples means. The single most strongly associated SNP was rs2786098 (p = 5.5 × 10−5), known to regulate the gene DENND1B. This explained approximately one-third of the trait heritability, with an allelic odds ratio for the A allele of 2.6. Among A/A carriers, 10 out of 12 individuals were asthmatic. The rs2786098*A variant was initially reported to decrease the risk of childhood (atopic) asthma in European but slightly increase the risk in African-descended populations, and does significantly alter Th2 cell function. Despite an absence of overall association with this variant in recent asthma genome wide association studies meta-analyses, an effect may exist on the particular genetic background of the Tristan da Cunha population.

Epistasis is a growing area of research in genome-wide studies, but the differences between alternative definitions of epistasis remain a source of confusion for many researchers. One problem is that models for epistasis are presented in a number of formats, some of which have difficult-to-interpret parameters. In addition, the relation between the different models is rarely explained. Existing software for testing epistatic interactions between single-nucleotide polymorphisms (SNPs) does not provide the flexibility to compare the available model parameterizations. For that reason we have developed an R package for investigating epistatic and penetrance models, Epi2Loc, to aid users who wish to easily compare, interpret, and utilize models for two-locus epistatic interactions. Epi2Loc facilitates research on SNP–SNP interactions by allowing the R user to easily convert between common parametric forms for two-locus interactions, generate data for simulation studies, and perform power analyses for the selected model with a continuous or dichotomous phenotype. The usefulness of the package for model interpretation and power analysis is illustrated using data on rheumatoid arthritis.