Few papers have attempted to address the potential of extended kinships of twins to resolve the complexities of biological and cultural inheritance in humans. Since the mid-80s these issues have largely been buried beneath the quest for specific genes that contribute to individual differences in complex traits and liability to disease. The articles of Keller et al. and Medland and Keller (current issue) revisit these issues. History will decide whether these new papers represent the final gasp of a paradigm superceded by the ‘new’ genetics or contain the timely seeds of new birth in the face of a 30-year genetic research program otherwise poised on the cusp of degeneration (Lakatos & Musgrave, 1970).

The contribution of genetic and environmental factors to the stability of obsessive–compulsive (OC) symptoms has not yet been established in adult population based samples. We obtained the Young Adult Self Report Obsessive–Compulsive Subscale in mono- and dizygotic twins from the population-based Netherlands Twin Register in 1991, 1995 and 1997 and the Padua Inventory Revised Abbreviated in 2002. Stability of OC symptoms was analyzed as a function of genetic and environmental components. Heritability of OC behavior was around 40% at each time-point, independent of the instrument used. OC behavior was moderately stable with correlations ranging between r = .2 (for 11-year intervals), .4 (for 4–5 year intervals) and .6 (for 2 year intervals). Genetic correlations across time were higher, varying between .4 and .9, indicating that the stability of OC symptoms is mainly due to stable genetic factors. This study showed a moderate heritability and stability for OC behavior in adults. Genetic stability across time is high.

Caffeine is by far the most commonly used psychoactive substance. Caffeine is consumed regularly as an ingredient of coffee. Coffee consumption and coffee preference was explored in a sample of 4,495 twins (including 1,231 pairs) registered with the Netherlands Twin Registry. Twin resemblance was assessed by tetrachoric correlations and the influence of both genetic and environmental factors was explored with model fitting analysis in MX. Results showed moderate genetic influences (39%) on coffee consumption. The remaining variance was explained by shared environmental factors (21%) and unique environmental factors (40%). The variance in coffee preference (defined as the proportion of coffee consumption relative to the consumption of coffee and tea in total) was explained by genetic factors (62%) and unique environmental factors (38%).

The twin method consists of a formal comparison between the resemblance between identical (monozygotic, MZ) twins and the resemblance between fraternal (dizygotic, DZ) twins for some trait of interest. It was developed between 1900 and about 1940, as more accurate tools for diagnosis of zygosity and for statistically analyzing the resemblance between relatives were built. Its early use was in the demonstration that a trait was inherited or that part of the causation of a trait was genetical, but it has now evolved to the point that twin registries constitute an important resource for the identification of specific genes and their interactions both with other genes and with the internal and external environment. Who really invented the method is still an unsettled question, which this article explores.

The objective was to examine the association between several obesity-related nongenetic behaviors and body mass index (BMI) and waist circumference (WC) in young adult twins using reports from both twins on their similarities and differences. A total of 713 monozygotic (MZ) and 698 same-sex dizygotic (DZ) twin pairs aged 22–28 years filled in structured questionnaires to compare their eating, physical activity and dieting behavior with their co-twin's behavior, and to report their own eating and exercise habits. In both MZ and DZ pairs, the co-twins for whom both twin pair members concordantly answered that this twin eats more, snacks more, eats more fatty foods and sweet and fatty delicacies, chooses less healthy foods, eats faster and exercises less, had significantly higher BMIs (0.6–2.9 kg/m2) and WCs (1.5–7.5 cm). Multivariate regression analysis identified co-twin differences in the amount of food consumed as the strongest independent predictor of intrapair differences in BMI (β = 0.63 and 1.21, for MZ and DZ, respectively, p < .001) and WC (β = 1.52 and 3.53, for MZ and DZ, respectively, p < .001). Higher leisure-time physical activity and healthier dietary choices clustered in the same subjects. The measurement of habitual dietary intake and physical activity has previously relied on subjective self-reports that are prone to misreporting. By using comparative measures within twin pairs we found that the amount of food consumed is the major contributor to obesity independent of genetic predisposition.

The analysis of genetic and environmental contributions to preterm birth is not straightforward in family studies, as etiology could involve both maternal and fetal genes. Markov Chain Monte Carlo (MCMC) methods are presented as a flexible approach for defining user-specified covariance structures to handle multiple random effects and hierarchical dependencies inherent in children of twin (COT) studies of pregnancy outcomes. The proposed method is easily modified to allow for the study of gestational age as a continuous trait and as a binary outcome reflecting the presence or absence of preterm birth. Estimation of fetal and maternal genetic factors and the effect of the environment are demonstrated using MCMC methods implemented in WinBUGS and maximum likelihood methods in a Virginia COT sample comprising 7,061 births. In summary, although the contribution of maternal and fetal genetic factors was supported using both outcomes, additional births and/or extended relationships are required to precisely estimate both genetic effects simultaneously. We anticipate the flexibility of MCMC methods to handle increasingly complex models to be of particular relevance for the study of birth outcomes.

Background: Exaggerated cardiovascular reactivity to stressful stimuli may be a risk factor for the development of hypertension. The genetic influence on blood pressure (BP) reactivity to stress and its control mechanisms has been receiving considerable support. This study aims at examining the heritability of BP and its intermediate hemodynamic phenotypes to acute stress in a homogeneous Arab population. Methods: Parameters were computed from continuous BP, electrocardiography and impedance cardiography measurements, during rest, word conflict (WCT) and cold pressor (CPT) tests. Heritability estimates (h2) were obtained using the variance components-based approach implemented in the SOLAR software package. Results: Reactivity scores for WCT and CPT increased significantly (P < .05) for systolic (SBP), diastolic (DBP), heart rate (HR), cardiac output (CO), and total peripheral resistance (TPR). They decreased significantly (P < .05) for stroke volume (SV), left ventricular ejection time (LVET), end diastolic (EDI) and cardiac contractility (IC) indices. Univariate analysis detected heritability estimates that ranged from 0.19–0.35 for rest, 0.002–0.40 for WCT and 0.08–0.35 for CPT. Conclusion: In this unique cohort, resting as well as challenged cardiovascular phenotypes are significantly influenced by additive genetic effects. Heritability estimates for resting phenotypes are in a relatively narrow range, while h2 for their reactivity is somewhat broader with lower estimates. Further analyses of this study may offer important opportunities for gene finding in hypertension. What is Known About the Topic: (1) cardiovascular reactivity to stress predicts cardiovascular disease; (2) genetic susceptibility plays an important role in stress reactivity. Family studies using the cold pressure test reported significant heritability for blood pressure. What this Study Adds: (1) this cohort is from five highly consanguineous isolated Arab pedigrees with genetically verified genealogical records and environmental homogeneity; (2) This is the first study to estimate heritability of detailed intermediate hemodynamic phenotypes that make up normal blood pressure.

The classical twin design uses data on the variation of and covariation between monozygotic and dizygotic twins to infer underlying genetic and environmental causes of phenotypic variation in the population. By using data from additional relative classes, such as parents, extended twin family designs more comprehensively describe the causes of phenotypic variation. This article introduces an extension of previous extended twin family models, the Cascade model, which uses information on twins as well as their siblings, spouses, parents, and children to differentiate two genetic and six environmental sources of phenotypic variation. The Cascade also relaxes assumptions regarding mating and cultural transmission that existed in previous extended twin family designs. The estimation of additional parameters and relaxation of assumptions is potentially important, not only because it allows more fine-grained descriptions of the causes of phenotypic variation, but more importantly, because it can reduce the biases in parameter estimates that exist in earlier designs.

The present study is the first behavioral genetic investigation of relationships between the Dark Triad of personality — Machiavellianism, narcissism, and subclinical psychopathy — and moral development. Participants were 154 monozygotic twin pairs and 82 same-sex dizygotic twin pairs. Higher scores on Machiavellianism and psychopathy were positively correlated with low levels of moral development; high psychopathy scores also correlated negatively with high levels of moral development. Individual differences in lower levels of moral development were attributable to genetic and nonshared environmental factors but, very interestingly, individual differences in the highest levels of moral development showed no genetic basis but were entirely attributable to shared and nonshared environmental factors. Finally, correlations between the Dark Triad and moral development variables showed no genetic basis while correlations among the moral development variables were variously attributable to correlated genetic and correlated environmental factors.

The purpose of the present study was to determine if a general factor of personality (GFP) could be extracted from the six dimensions of the HEXACO model and four factors of trait emotional intelligence. Participants were 1,192 pairs of twins (666 MZ pairs, 526 DZ pairs) between the ages of 19 to 86 years, who completed the Trait Emotional Intelligence Questionnaire — Short Form and the HEXACO Personality Inventory — Revised. Principal components analysis yielded a strong GFP accounting for 33% of the variance, on which all variables with the exception of honesty-humility from the HEXACO showed moderate to large loadings. Behavioral genetic (BG) analyses revealed that individual differences in the GFP were entirely attributable to additive genetic and non-shared environmental factors — results that are in accord with previous BG analyses of a GFP. The present study adds to the body of evidence in support of a heritable GFP but an alternative perspective is also discussed.

A recent study has suggested that aggressive (AGG) and non-aggressive, rule-breaking (RB) antisocial behavior evidence differential and subtype-specific patterns of genetic expression during development. Namely, although genetic influences on RB increase dramatically during early- to mid-adolescence, genetic influences on AGG appear to remain stable. As no other study has examined age-related change in AGG versus RB, more research is clearly needed before any firm conclusions can be drawn. The current study thus examined whether and how age impacted genetic and environmental influences on AGG and RB in a sample of 252 10- to 15-year-old twin pairs assessed as part of the Michigan State University Twin Registry (MSUTR). Results constructively replicated and extended prior findings, indicating that while the magnitude of genetic and environmental influences on AGG remained stable across adolescence, genetic influences on RB increased dramatically with age. Such findings provide additional support for etiological distinctions within the broader construct of antisocial behavior based on the presence or absence of aggression, and offer insights into the expression of genetic influences during development.

Recent findings of an association between anesthesia administration in the first three years of life and later learning disabilities have created concerns that anesthesia has neurotoxic effects on synaptogenesis, causing later learning problems. An alternative hypothesis is that those children who are likely to undergo surgery early in life have significant medical problems that are associated with a vulnerability to learning disabilities. These two hypotheses were evaluated in a monozygotic concordant–discordant twin design. Data on anesthesia administration and learning abilities and disabilities were available for 1,143 monozygotic twin pairs (56% female) from the Netherlands Twin Registry. Parents of the twins reported on anesthesia use before age 3 and again between ages 3 and 12 years. Near age 12, educational achievement and cognitive problems were assessed with standardized tests and teacher ratings. Results showed that twins who were exposed to anesthesia before age 3 had significantly lower educational achievement scores and significantly more cognitive problems than twins not exposed to anesthesia. However, there was one important exception: the unexposed co-twin from discordant pairs did not differ from their exposed co-twin. Thus, there is no evidence for a causal relationship between anesthesia administration and later learning-related outcomes in this sample. Rather, there is evidence for early anesthesia being a marker of an individual's vulnerability for later learning problems, regardless of their exposure to anesthesia.

Modeling the data from extended twin pedigrees allows the estimation of increasing complex covariance relationships in which the effects of cultural transmission, nonrandom mating and genotype x environment covariation can be incorporated. However, the power to detect these effects in existing data sets has not yet been examined. The present study examined the effects that different family structures (i.e., the ratio of MZ to DZ families and the importance of cousins vs. avuncular relatives) have on statistical power. In addition, we examined the power to detect genetic and environmental effects within the context of two large data sets (VA30K and the OZVA60K). We found that power to detect additive genetic and cultural transmission effects were maximized by over sampling MZ families. In terms of ascertainment, there was little difference in power between samples that had focused on recruiting a third generation (the children of twins) versus those that had focused on recruiting the siblings of the twins. In addition, we examined the power to detect additive and dominant genetic effects, cultural transmission and assortative mating in the existing VA30K and OZVA60K samples, under two different models of mating: phenotypic assortment and social homogamy. There was nearly 100% power to detect assortative mating and cultural transmission, against a background of small additive and dominant genetic and familial environmental effects. In addition, the power to detect additive or dominant genetic effects quickly asymptoted, so that there was almost 100% power to detect effects explaining 20% or more of the total variance. These results demonstrate that the Cascade model has sufficient power to detect parameters of interest in existing datasets. Mx scripts are available from www.vipbg.vcu.edu/~sarahme/cascade.

Two studies were conducted to see whether a general factor of personality (GFP) could be extracted from different measures of personality. Using samples of twins in both studies also allowed an assessment of the extent to which genetic and/ or environmental factors contributed to individual differences in the GFPs that were found. In Study 1, principal components analysis of the Big Five personality traits in combination with four scales of mental toughness yielded a strong GFP and behavior genetic model-fitting showed that individual differences in this GFP were fully accounted for by genetic and nonshared environmental factors. In Study 2, a GFP was extracted from the Big Five traits in combination with 15 facets of emotional intelligence. Individual differences in this GFP were also fully accounted for by genetic and nonshared environmental factors. These studies add to the growing body of research demonstrating the existence of a GFP and replicate one previous report of its heritability.

Web-based studies have become increasingly common in the social sciences, but have been rare in genetic epidemiology in general and twin studies in particular. We here review the methods, validity checks and preliminary correlational data from an on-line questionnaire collected from 2005–2008. During this time period, 44,112 individuals completed the questionnaire. This sample was 65.3% female, 85.4% 18 years or older, 72.0% Caucasian and had a mean educational level of 12.2 years. The sample included 609 twin, 333 sibling and 201 parent-offspring pairs as well as 342 dating partners, 313 ‘significant other’ pairs, 327 spouses and 2,316 friend pairs. A range of checks suggested low levels of invalid data. Correlations for personality, substance use and misuse, lifetime major depression, social attitudes, educational status, and height and weight were broadly similar to those obtained previously using conventional assessment methods. Web-based studies are a relatively easy and inexpensive way to ascertain large numbers of individuals, although obtaining twin pairs is more difficult, and female and monozygotic pairs are overrepresented. The sample is diverse and pair resemblance is generally similar to that obtained using interviews or mailed questionnaires.

Testis size is an important feature of male pubertal development. The genetic and environmental contributions to variation in human testis size have hardly been studied. We estimated the heritability of human testicular size in a group of mono- and dizygotic twins and their non-twin brothers (145 twins and 20 brothers from 95 families). Participants were 18 years old on average and all had reached Tanner development stage 4 or higher. Dizygotic twins and their siblings had a larger mean testis volume than monozygotic twins and their siblings. There was significant familial resemblance, with higher correlations in monozygotic twin pairs (0.59) than in dizygotic twin and sibling pairs (0.34). Heritability was estimated at 59% (95% CI = 37–75%), but a model that excluded genetic influences and attributed all familial resemblance to shared environment, fitted the data only marginally worse. The finding of larger mean testis volume in dizygotic twins may be of interest for future research into the mechanisms underlying dizygotic twinning.

The aim of this study was to estimate the rates of recovery, treatment-seeking, and natural recovery from pathological gambling (PG) in men and women in a community-based national survey, and to examine the role of gambling problem recognition in recovery from PG. Participants were 4,764 individuals from a community-based Australian national twin registry (104 with a lifetime history of PG) who were administered a structured psychiatric telephone interview. Women were more likely than men to recover from (56% versus 36%; odds ratio = 2.3) and to seek treatment for PG (32% versus 13%; odds ratio = 3.2). Most individuals who recovered from PG did so without treatment (82%), but this was higher among men than among women (92% versus 57%; odds ratio = 5.3). This is the first study to document sex differences in treatment-seeking and recovery from PG. These findings highlight the value in continuing to develop self-help and brief treatments for PG that will appeal to those who are unlikely to seek formal help.

Although genetic basis of childhood temperament has been well documented in western populations, little is known about whether genes play an important role in childhood temperament in East Asians. The present study examined mother's ratings of Emotionality, Activity, and Sociability (EAS) in 894 pairs of 2- to 9-year-old South Korean twins. The best-fitting model indicated that 34 to 47% of the variances of the EAS were attributable to genetic factors, with the remaining variances being due to the effects of environmental experiences unique to each child. Common family environmental factors were negligible. Genetic variances for Activity and Sociability were primarily nonadditive, whereas those for Emotionality were additive. In spite of well known cultural differences in child rearing practices, social values, and the mean levels of temperament between East Asian and western populations, the pattern of additive vs. nonadditive gene actions and heritability estimates found in the present sample were remarkably similar to those reported in western twin samples. There were no significant age or sex differences in genetic or environmental influences. Overall, these results corroborate cross cultural generality of genetic influences on childhood temperament.

In three studies, a General Factor of Personality (GFP) was found to occupy the apex of the hierarchical structure. In Study 1, a GFP emerged independent of method variance and accounted for 54% of the reliable variance in a multitrait–multimethod assessment of 391 Italian high school students that used self-, teacher-, and parent-ratings on the Big Five Questionnaire — Children. In Study 2, a GFP was found in the seven dimensions of Cloninger's Temperament and Character Inventory as well as the Big Five of the NEO PI-R, with the GFPtci correlating r = .72 with the GFPneo. These results indicate that the GFP is practically the same in both test batteries, and its existence does not depend on being extracted using the Big Five model. The GFP accounted for 22% of the total variance in these trait measures, which were assessed in 651 pairs of 14- to 30-year-old Japanese twins. In Study 3, a GFP accounted for 32% of the total variance in nine scales derived from the NEO PI-R, the Humor Styles Questionnaire, and the Trait Emotional Intelligence Questionnaire assessed in 386 pairs of 18- to 74-year-old Canadian and U.S. twins. The GFP was found to be 50% heritable with high scores indicating openness, conscientiousness, sociability, agreeableness, emotional stability, good humor and emotional intelligence. The possible evolutionary origins of the GFP are discussed.

We examine the impact of rearing by an alcoholic parent on risk for child behavior problems using data on 2492 offspring drawn from two ongoing studies of children of female and male same- and opposite-sex twin pairs. Results of regression models predicting child behavior problems from parent and co-twin lifetime history of alcohol use disorder (AUD) provide support for genetic but not environmental transmission of externalizing and a measure of total problem behaviors. Results for internalizing behavior were inconclusive with respect to transmission of risk.