The Swedish Twin Registry functions as research infrastructure containing information on 216,258 twins born between 1886 and 2015, of whom 86,199 pairs have zygosity determined by DNA, an intrapair similarity algorithm, or being of opposite sex. In essence, practically all twins alive and currently 9 years or older have been invited for participation and donation of DNA on which genomewide single nucleotide polymorphisms array genotyping has been performed. Content, management and alternatives for future improvements are discussed.

Although social and intellectual engagement have been consistently associated with late-life functioning, rather than true causation, these associations may reflect the experiential choices of high functioning individuals (i.e., selection effects). We investigated the association of social activity with late-life physical functioning, cognitive functioning, and depression symptomatology using data from 1112 pairs of like-sex twins who participated in the Longitudinal Study of Aging Danish Twins. Consistent with previous research, we found that social activity was significantly correlated with overall level of physical functioning, cognitive functioning, and depression symptomatology. We also found that social activity was significantly and moderately heritable (estimate of .36), raising the possibility that its association with late-life functioning might reflect selection processes. Further, social activity did not predict change in functioning and in monozygotic twin pairs discordant on level of social activity, the more socially active twin was not less susceptible to age decreases in physical and cognitive functioning and increases in depression symptomatology than the less socially active twin. These results are interpreted in the context of the additional finding that nonshared environmental factors, although apparently not social activity, are the predominant determinant of changes in late-life functioning.

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.

This paper reviews several aspects of discordant growth in multiple pregnancies. Discordant growth is not a chance event and therefore several patterns can be discerned. About 75% of twins exhibit < 15% discordance (concordant), 20% are 15–25% (mildly) discordant, and about 5% are more than 25% (severely) discordant. Higher frequencies and increased severity are seen among triplets. Five observations regarding discordance became generally accepted: (a) not all discordant pairs are similar; (b) the larger the discordance level the greater is the risk for an adverse outcome; (c) discordant growth does not necessarily represent growth restriction; (d) a discordance level may have a different clinical implication in different gestational ages; and (e) the smaller fetuses in severely discordant pairs are at disproportionate risk for neonatal mortality. Mild discordance may represent a normal variation between sibs whereas severely discordant pairs often exhibit patterns of growth restriction. Not infrequently, discordance may represent an adaptation to the limited intrauterine space in order to increase gestational age.

Questionnaire surveys, while more economical, typically achieve poorer response rates than interview surveys. We used data from a national volunteer cohort of young adult twins, who were scheduled for assessment by questionnaire in 1989 and by interview in 1996-2000, to identify predictors of questionnaire non-response. Out of a total of 8536 twins, 5058 completed the questionnaire survey (59% response rate), and 6255 completed a telephone interview survey conducted a decade later (73% response rate). Multinomial logit models were fitted to the interview data to identify socioeconomic, psychiatric and health behavior correlates of non-response in the earlier questionnaire survey. Male gender, education below University level, and being a dizygotic rather than monozygotic twin, all predicted reduced likelihood of participating in the questionnaire survey. Associations between questionnaire response status and psychiatric history and health behavior variables were modest, with history of alcohol dependence and childhood conduct disorder predicting decreased probability of returning a questionnaire, and history of smoking and heavy drinking more weakly associated with non-response. Body-mass index showed no association with questionnaire non-response. Despite a poor response rate to the self-report questionnaire survey, we found only limited sampling biases for most variables. While not appropriate for studies where socioeconomic variables are critical, it appears that survey by questionnaire, with questionnaire administration by telephone to non-responders, will represent a viable strategy for gene-mapping studies requiring that large numbers of relatives be screened.

Over the last 60 years, the resources and the research in the Danish Twin Registry (DTR) have periodically been summarized. Here, we give a short overview of the DTR and a more comprehensive description of new developments in the twenty-first century. First, we outline our experience over the last decade of combining questionnaire and survey data with national demographic, social, and health registers in Statistics Denmark. Second, we describe our most recent data collection effort, which was conducted during the period 2008–2011 and included both in-person assessments of 14,000+ twins born 1931–1969 and sampling of biological material, hereby expanding and consolidating the DTR biobank. Third, two examples of intensively studied twin cohorts are given. The new developments in the DTR in the last decade have facilitated the ongoing research and laid the groundwork for new research directions.

This article reviews the extant twin studies employing magnetic resonance imaging data (MRI), with an emphasis on studies of populationbased samples. There have been approximately 75 twin reports using MRI, with somewhat under half focusing on typical brain structure. Of these, most are samples of adults. For large brain regions such as lobar volumes, the heritabilities of large brain volumes are consistently high, with genetic factors accounting for at least half of the phenotypic variance. The role of genetics in generating individual differences in the volumes of small brain regions is less clear, mostly due to a dearth of information, but rarely because of disagreement between studies. Multivariate analyses show strong genetic relationships between brain regions. Cortical regions involved in language, executive function, and emotional regulation appear to be more heritable than other areas. Studies of brain shape also show significant, albeit lower, genetic effects on population variance. Finally, there is evidence of significant genetically mediated relationships between intelligence and brain structure. At present, the majority of twin imaging studies are limited by sample sizes small by the standards of behavioral genetics; nevertheless the literature at present represents a pioneering effort in the pursuit of answers to many challenging neurobiological questions.

Twinning rates in developed countries have recently registered an increase. At the end of the 1970s, the change in mother's age structure has partially contributed to the growth in the proportion of multiple births. In fact, the evolution of twinning rates is related to the calendar of maternity since, comparatively to younger mothers, older women more frequently have twins. Moreover, the growing frequency of multiple births also depends on fertility treatments, which are largely used in the developed countries. National data from the civil birth registration systems are taken into account in order to describe, in a comparative study, the main trends of twinning rates in the 20th century.

Aloss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.

Twin studies have demonstrated that personality traits show moderate genetic influence. The conclusions drawn from twin studies rely on the assumptions that twins are representative of the population at large and that monozygotic and dizygotic twins are comparable in every way that might have bearing on the traits being studied. To evaluate these assumptions, we used Multidimensional Personality Questionnaire (MPQ) data from three samples drawn from the Minnesota Twin Registry (totaling 12,971 respondents) to examine the effect sizes associated with mean differences on the 11 MPQ scales and 3 higher-order MPQ factors for singletons versus twins and MZ twins versus DZ twins. The singletons in the samples were family members of the participating twins. We also used ratios of scale variances to examine the significance of variance differences. The only mean or variance difference replicated across all three samples was greater Social Closeness (about .1 standard deviation) for twins than for singletons. This difference was obtained for both males and females. It would appear that, with respect to personality, twins are not systematically different from other people. Our results also highlight the importance of replication in psychological research because each of our large samples showed differences not replicated in other samples.

The primary aim of the Michigan State University Twin Registry (MSUTR) is on understanding developmental changes in genetic, environmental, and neurobiological influences on internalizing and externalizing disorders, with antisocial behavior and disordered eating representing our particular areas of interest. The MSUTR has two broad components: a large-scale, population-based registry of child, adolescent, and adult twins and their families (current N ~20,000) and a series of more focused and in-depth studies drawn from the registry (current N ~4,000). Participants in the population-based registry complete a family health and demographic questionnaire via mail. Families are then recruited for one or more of the intensive, in-person studies from the population-based registry based on their answers to relevant items in the registry questionnaire. These in-person assessments target a variety of biological, genetic, and environmental phenotypes, including multi-informant measures of psychiatric and behavioral phenotypes, census and neighborhood informant reports of twin neighborhood characteristics, buccal swab and salivary DNA samples, assays of adolescent and adult steroid hormone levels, and/or videotaped interactions of child twin families. This article provides an overview of the MSUTR and describes current and future research directions.

The propensity to take risk underpins a wide variety of decision-making behavior, ranging from common ones such as asking for directions and trying out a new restaurant to more substantial economic decisions involving, for instance, one's investment or career. Despite the fundamental role of risk attitude in the economy, its genetic basis remains unknown. Using an experimental economics protocol combined with a classical twin strategy, we provide the first direct evidence of the heritability of economic risk attitude, at 57%. We do not find a significant role for shared environmental effects, a common observation in behavioral genetics that is contrary to commonly held views in economics. Our findings complement recent neuroeconomic studies in enhancing the understanding of the neurobiological basis of risk taking.

The classical twin design (CTD) circumvents parameter indeterminacy by assuming (1) negligible higher-order epistasis; and (2) either nonadditive genetic or common environmental effects are nonexistent, creating two potential sources of bias (Eaves et al., 1978; Grayson, 1989). Because the extended twin-family design (ETFD) uses many more unique covariance observations to estimate parameters, common environmental and nonadditive genetic parameters can be simultaneously estimated. The ETFD thereby corrects for what is likely to be the largest of the two sources of bias in CTD parameter estimates (Keller & Coventry, 2005). In the current paper, we assess the extent of this and other potential sources of bias in the CTD by comparing all published ETFD parameter estimates to CTD parameter estimates derived from the same data. CTD estimates of the common environment were lower than ETFD estimates of the common environment for some phenotypes, but for other phenotypes (e.g., stature in females and certain social attitudes), what appeared as the common environment was resolved to be assortative mating in the ETFD. On average, CTD estimates of nonadditive genetic factors were 43% lower, and additive genetic factors 63% higher, than ETFD estimates. However, broad-sense heritability estimates from the CTD were only 18% higher than ETFD estimates, highlighting that the CTD is useful for estimating broad-sense but not narrow-sense heritability. These results suggest that CTD estimates can be misleading when interpreted literally, but useful, albeit coarse, when interpreted properly.

Disordered gambling (DG) will soon be included along with the substance use disorders in a revised diagnostic category of the Diagnostic and Statistical Manual of Mental Disorders DSM-5 called ‘Substance Use and Addictive Disorders’. This was premised in part on the common etiologies of DG and the substance use disorders. Using data from the national community-based Australian Twin Registry, we used biometric model fitting to examine the extent to which the genetic liabilities for DG and alcohol use disorder (AUD) were shared, and whether this differed for men and women. The effect of using categorical versus dimensional DG and AUD phenotypes was explored, as was the effect of using diagnoses based on the DSM-IV and the proposed DSM-5 diagnostic criteria. The genetic correlations between DG and AUD ranged from 0.29 to 0.44. There was a significantly larger genetic correlation between DG and AUD among men than women when using dimensional phenotypes. Overall, about one-half to two-thirds of the association between DG and AUD was due to a shared genetic vulnerability. This study represents one of the few empirical demonstrations of an overlap in the genetic risk for DG and another substance-related addictive disorder. More research is needed on the genetic overlap between DG and other substance use disorders, as well as the genetic overlap between DG and other (non-substance-related) psychiatric disorders.

The University of Washington Twin Registry is a unique community-based registry of twin pairs who join specifically to participate in scientific research. It was founded in 2002 to serve as a resource for investigators throughout the scientific community. Current enrollment exceeds 7,200 pairs, and plans are in place to increase enrollment to 10,000 pairs by 2015. In addition to serving as a recruitment base for new research studies, the registry maintains extensive and continually expanding survey data on physical and mental health, as well as a biorepository that includes DNA from more than 8,800 individual twins. The registry is engaged in linking member data to birth records and to diagnostic and procedure variables for hospital-based care provided to members in Washington State. It also incorporates several innovative variables relevant to the built and social environments, which were created by geocoding twin addresses and linking the resulting coordinates to geospatial information systems databases. This combination of existing data and biospecimens, characterizing a group of twins who are willing to participate in research, is a valuable resource for the new wave of twin studies. These include ‘omics’, epigenetics, gene-by-environment interactions, and other novel methods to understand human health.

The Eating Inventory (EI) is commonly used to measure a range of eating behaviors. It includes three subscales: Cognitive Restraint, Hunger, and Disinhibition. In this study, we decomposed the variance of the three subscales, and evaluated the genetic, common environment and specific environmental effects on each in a sample of female-female twin pairs. Multivariate models were also used to examine whether the EI represented three individual factors, or whether there was extensive covariance among subscales. Heritabilities were estimated at 45% (CI of 32–57%) for Disinhibition, 8% (CI of 0–38%) for Hunger, and 0% (CI of 0–30%) for Restraint. Common environmental influences were estimated at 0% (CI of 0–23%) for Disinhibition, 16% (CI of 0–34%) for Hunger, and 31% (4–42%) for Restraint. Specific environmental influences accounted for the rest of the variance of the subscales. However, multivariate modeling indicated that Disinhibition and Hunger covaried significantly, indicating that these two subscales are influenced by the same set of genetic factors. Furthermore, Restraint appeared to be empirically distinct from Hunger or Disinhibition.

This study investigated the influence of genes and environment on the variation of apolipoprotein and lipid levels, which are important intermediate phenotypes in the pathways toward cardiovascular disease. Heritability estimates are presented, including those for apolipoprotein E and AII levels which have rarely been reported before. We studied twin samples from the Netherlands (two cohorts; n = 160 pairs, aged 13–22 and n = 204 pairs, aged 34–62), Australia (n = 1362 pairs, aged 28–92) and Sweden (n = 302 pairs, aged 42–88). The variation of apolipoprotein and lipid levels depended largely on the influences of additive genetic factors in each twin sample. There was no significant evidence for the influence of common environment. No sex differences in heritability estimates for any phenotype in any of the samples were observed. Heritabilities ranged from 0.48–0.87, with most heritabilities exceeding 0.60. The heritability estimates in the Dutch samples were significantly higher than in the Australian sample. The heritabilities for the Swedish were intermediate to the Dutch and the Australian samples and not significantly different from the heritabilities in these other two samples. Although sample specific effects are present, we have shown that genes play a major role in determining the variance of apolipoprotein and lipid levels in four independent twin samples from three different countries.

Food liking-disliking patterns may strongly influence food choices and health. Here we assess: (1) whether food preference patterns are genetic/environmentally driven; and (2) the relationship between metabolomics profiles and food preference patterns in a large population of twins. 2,107 individuals from TwinsUK completed an online food and lifestyle preference questionnaire. Principle components analysis was undertaken to identify patterns of food liking-disliking. Heritability estimates for each liking pattern were obtained by structural equation modeling. The correlation between blood metabolomics profiles (280 metabolites) and each food liking pattern was assessed in a subset of 1,491 individuals and replicated in an independent subset of monozygotic twin pairs discordant for the liking pattern (65 to 88 pairs). Results from both analyses were meta-analyzed. Four major food-liking patterns were identified (Fruit and Vegetable, Distinctive Tastes, Sweet and High Carbohydrate, and Meat) accounting for 26% of the total variance. All patterns were moderately heritable (Fruit and Vegetable, h2[95% CI]: 0.36 [0.28; 0.44]; Distinctive Tastes: 0.58 [0.52; 0.64]; Sweet and High Carbohydrate: 0.52 [0.45, 0.59] and Meat: 0.44 [0.35; 0.51]), indicating genetic factors influence food liking-disliking. Overall, we identified 14 significant metabolite associations (Bonferroni p < 4.5 × 10−5) with Distinctive Tastes (8 metabolites), Sweet and High Carbohydrate (3 metabolites), and Meat (3 metabolites). Food preferences follow patterns based on similar taste and nutrient characteristics and these groupings are strongly determined by genetics. Food preferences that are strongly genetically determined (h2 ≥ 0.40), such as for meat and distinctive-tasting foods, may influence intakes more substantially, as demonstrated by the metabolomic associations identified here.

Body-mass index (BMI), total cholesterol (TC), lowdensity lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglyceride (TG) levels are known to be highly heritable. We evaluated the genetic and environmental relationships of these measures over time in an analysis of twin pairs. Monozygotic (235 pairs) and dizygotic (260 pairs) male twins were participants in the National Heart Lung and Blood Institute Veteran Twin Study, and were followed with three clinical exams from mean age 48 years to mean age 63 years. Structural equation modeling (SEM) with adjustment for APOE genotype (a significant contributor to TC and LDL-C) was used to assess longitudinal patterns of heritability. Results indicated a contribution of genetic factors to BMI, TC, LDL-C, HLD-C, and TG. Modest increases over time were observed in the heritability of BMI (from 0.48 to 0.61), TC (from 0.46 to 0.57), LDL-C (from 0.49 to 0.64), and HDL-C (from 0.50 to 0.62), but this trend was not present for TG. There was a corresponding decrease in shared environmental influences over time for these traits, although shared environment was a significant contributor only for HDL-C. Moreover, we observed that genetic influences for all measures were significantly correlated over time, and we found no evidence of age-specific genetic effects. In summary, longitudinal analyses of twin data indicate that genetic factors do not account for a significant proportion of the variation in age-related changes of BMI or lipid and lipoprotein levels.

People meeting diagnostic criteria for anxiety or depressive disorders tend to score high on the personality scale of neuroticism. Studying this dimension of personality can therefore give insights into the etiology of important psychiatric disorders. Neuroticism can be assessed easily via self-report questionnaires in large population samples. We have examined the genetic and phenotypic stability of neuroticism, measured up to 4 times over 22 years, on different scales, on a data set of 4999 families with over 20,000 individuals completing at least 1 neuroticism questionnaire. The neuroticism scales used were the Eysenck Personality Questionnaire revised (EPQ-R), the EPQ-R shortened form, and the NEO 5 factor inventory personality questionnaire. The estimates of heritability of the individual measures ranged from .26 ± .04 to .36 ± .03. Genetic, environmental, and phenotypic correlations averaged .91, .42, and .57 respectively. Despite the range in heritabilities, a more parsimonious ‘repeatability model’ of equal additive genetic variances and genetic correlations of unity could not be rejected. Use of multiple measures increases the effective heritability from .33 for a single measure to .43 for mean score because of the reduction in the estimate of the environmental variance, and this will increase power in genetic linkage or association studies of neuroticism.