For zygosity diagnosis in the absence of genotypic data, or in the recruitment phase of a twin study where only single twins from same-sex pairs are being screened, or to provide a test for sample duplication leading to the false identification of a dizygotic pair as monozygotic, the appropriate analysis of respondents' answers to questions about zygosity is critical. Using data from a young adult Australian twin cohort (N = 2094 complete pairs and 519 singleton twins from same-sex pairs with complete responses to all zygosity items), we show that application of latent class analysis (LCA), fitting a 2-class model, yields results that show good concordance with traditional methods of zygosity diagnosis, but with certain important advantages. These include the ability, in many cases, to assign zygosity with specified probability on the basis of responses of a single informant (advantageous when one zygosity type is being oversampled); and the ability to quantify the probability of misassignment of zygosity, allowing prioritization of cases for genotyping as well as identification of cases of probable laboratory error. Out of 242 twins (from 121 like-sex pairs) where genotypic data were available for zygosity confirmation, only a single case was identified of incorrect zygosity assignment by the latent class algorithm. Zygosity assignment for that single case was identified by the LCA as uncertain (probability of being a monozygotic twin only 76%), and the co-twin's responses clearly identified the pair as dizygotic (probability of being dizygotic 100%). In the absence of genotypic data, or as a safeguard against sample duplication, application of LCA for zygosity assignment or confirmation is strongly recommended.

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.

The classical twin design (CTD) is the most common method used to infer genetic and environmental causes of phenotypic variation. As has long been acknowledged, different combinations of the common environment/assortative mating, and additive, dominant, and epistatic genetic effects can lead to the same observed covariation between twin pairs, meaning that there is an inherent indeterminacy in parameter estimates arising from the CTD. The CTD circumvents this indeterminacy by assuming that higher-order epistasis is negligible and that the effects of either dominant genetic variation or the common environment are nonexistent. These assumptions, however, lead to consistent biases in parameter estimation. The current paper quantifies these biases and discusses alternative strategies for dealing with parameter indeterminacy in twin designs. One strategy is to model the similarity among other relatives in addition to twins (extended twin-family designs), which reduces but does not eliminate indeterminacy in parameter estimates. A more general strategy, applicable to all twin designs, is to present the parameter indeterminacy explicitly, as in a graph. Presenting the space of mathematically equally likely parameter values is important, not only because it aids the proper interpretation of twin design findings, but also because it keeps behavioral geneticists themselves mindful of methodological assumptions that can easily go unexamined.

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.

Ronald Wilson presented the first clear and compelling evidence that the heritability of IQ increases with age. We propose to call the phenomenon ‘The Wilson Effect’ and we document the effect diagrammatically with key twin and adoption studies, including twins reared apart, that have been carried out at various ages and in a large number of different settings. The results show that the heritability of IQ reaches an asymptote at about 0.80 at 18–20 years of age and continuing at that level well into adulthood. In the aggregate, the studies also confirm that shared environmental influence decreases across age, approximating about 0.10 at 18–20 years of age and continuing at that level into adulthood. These conclusions apply to the Westernized industrial democracies in which most of the studies have been carried out.

To examine the contribution of genetic factors to food choice, we determined dietary patterns from food frequency questionnaires in 3262 UK female twins aged 18 to 79 years. Five distinct dietary patterns were identified (fruit and vegetable, high alcohol, traditional English, dieting, low meat) that accounted for 22% of the total variance. These patterns are similar to those found in other singleton Western populations, and were related to body mass index, smoking status, physical activity and deprivation scores. Older subjects had higher scores on the fruit and vegetable and traditional English patterns, while lower social deprivation was associated with higher scores for fruit and vegetable, and lower scores for traditional English patterns. All 5 patterns were heritable, with estimates ranging from 41% to 48%. Among individual dietary components, a strongly heritable component was identified for garlic (46%), coffee (41%), fruit and vegetable sources (49%), and red meat (39%). Our results indicate that genetic factors have an important influence in determining food choice and dietary habits in Western populations. The relatively high heritability of specific dietary components implicates taste perception as a possible target for future genetic studies.

Quantitative and molecular genetic research requires large samples to provide adequate statistical power, but it is expensive to test large samples in person, especially when the participants are widely distributed geographically. Increasing access to inexpensive and fast Internet connections makes it possible to test large samples efficiently and economically online. Reliability and validity of Internet testing for cognitive ability have not been previously reported; these issues are especially pertinent for testing children. We developed Internet versions of reading, language, mathematics and general cognitive ability tests and investigated their reliability and validity for 10- and 12-year-old children. We tested online more than 2500 pairs of 10-year-old twins and compared their scores to similar internet-based measures administered online to a subsample of the children when they were 12 years old (> 759 pairs). Within 3 months of the online testing at 12 years, we administered standard paper and pencil versions of the reading and mathematics tests in person to 30 children (15 pairs of twins). Scores on Internet-based measures at 10 and 12 years correlated .63 on average across the two years, suggesting substantial stability and high reliability. Correlations of about .80 between Internet measures and in-person testing suggest excellent validity. In addition, the comparison of the internet-based measures to ratings from teachers based on criteria from the UK National Curriculum suggests good concurrent validity for these tests. We conclude that Internet testing can be reliable and valid for collecting cognitive test data on large samples even for children as young as 10 years.

Background: Recent studies have reported associations between air pollution exposure and neurodevelopmental disorders in children, but the role of pre- and postnatal exposure has not been elucidated. Aim: We aimed to explore the risk for autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD) among children in relation to pre- and postnatal exposure to air pollution from road traffic. Methods: Parents of 3,426 twins born in Stockholm during 1992–2000 were interviewed, when their children were 9 or 12 years old, for symptoms of neurodevelopmental disorders. Residence time-weighted concentrations of particulate matter with a diameter <10 μm (PM10) and nitrogen oxides (NOx) from road traffic were estimated at participants’ addresses during pregnancy, the first year, and the ninth year of life using dispersion modeling, controlling for seasonal variation. Multivariate regression models were used to examine the association between air pollution exposure and neurodevelopmental outcomes, adjusting for potential confounding factors. Results: No clear or consistent associations were found between air pollution exposure during any of the three time windows and any of the neurodevelopmental outcomes. For example, a 5–95% difference in exposure to NOx during pregnancy was associated with odds ratios (ORs) of 0.92 (95% confidence interval (CI): 0.44–1.96) and 0.90 (95% CI: 0.58–1.40) for ASD and ADHD respectively. A corresponding range in exposure to PM10 during pregnancy was related to ORs of 1.01 (95% CI: 0.52–1.96) and 1.00 (95% CI: 0.68–1.47) for ASD and ADHD. Conclusions: Our data do not provide support for an association between pre- or postnatal exposure to air pollution from road traffic and neurodevelopmental disorders in children.

We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (rg = 0.39). Perceptual Organization was both genetically (rg = 0.39) and environmentally (re= −0.71) related to cerebellar volume. Verbal Comprehension was not related to any of the three brain volumes. It is concluded that brain volumes are genetically related to intelligence which suggests that genes that influence brain volume may also be important for intelligence. It is also noted however, that the direction of causation (i.e., do genes influence brain volume which in turn influences intelligence, or alternatively, do genes influence intelligence which in turn influences brain volume), or the presence or absence of pleiotropy has not been resolved yet.

This study reports on genetic and environmental influences on the frequency of orgasm in women during sexual intercourse, during other sexual contact with a partner, and during masturbation. Participants were drawn from the Australian Twin Registry, and recruited from a large, partly longitudinal twin-family study. Three thousand and eighty women responded to the anonymous self-report questionnaire, including 667 complete monozygotic (MZ) pairs and 377 complete dizygotic (DZ) same-sex pairs, 366 women from complete DZ opposite-sex pairs, and 626 women whose co-twins did not participate. Significant twin correlations were found for both MZ and DZ twin pairs for all three items of interest. Age effects were statistically significant for some items. Models incorporating additive genetic, shared and nonshared environmental influences provided the best fit for Items 1 and 3, while a model with additive and nonadditive genetic influences along with nonshared envir-onment fitted the data from Item 2. While an independent pathway model fits the data most par-simoniously, a common pathway model incorporating additive genetic (A), shared environment (C), and unique environment (E) effects cannot be ruled out. Overall, genetic influences account for approximately 31% of the variance of frequency of orgasm during sexual intercourse, 37% of the variance of frequency of orgasm during sexual contact other than during intercourse, and 51% of the variance of frequency of orgasm during masturbation. Following Baker (1996), we speculate that this additive genetic variance might arise from frequency-dependent selection for a variety of female sexual strategies.

The Vietnam Era Twin Study of Aging (VETSA) is a longitudinal behavioral genetic study with a primary focus on cognitive and brain aging in men. It comprises a subset of over 1,200 twins from the Vietnam Era Twin Registry. Like many other studies of aging, the VETSA includes many different phenotypes, but there are some key features that distinguish it from most other behavioral genetic aging studies. First, the initial assessment was conducted when all participants were middle-aged. Second, the age range of participants is narrow; all were in their 50s at the time of the initial recruitment. Third, the study includes an extensive and demanding neurocognitive test battery that was designed to provide good coverage of different cognitive abilities and avoid ceiling effects in middle-aged adults. Fourth, young adult cognitive test data (at an average age of 20 years) are available to provide a gauge of cognitive change. These features make the VETSA ideal for studying the heterogeneity of within-individual trajectories from midlife to old age, and for early detection of risk factors for cognitive decline.

The longitudinal fissure separates the human brain into two hemispheres that remain connected through the corpus callosum. The left and the right halves of the brain resemble each other, and almost every structure present in one side has an equivalent structure in the other. Despite this exceptional correspondence, the two hemispheres also display important anatomical differences and there is marked lateralization of certain cognitive and motor functions such as language and handedness. However, the mechanisms that underlie the establishment of these hemispheric specializations, as well as their physiological and behavioral implications, remain largely unknown. Thanks to recent advances in neuroimaging, a series of studies documenting variation in symmetry and asymmetry as a function of age, gender, brain region, and pathological state, have been published in the past decade. Here, we review evidence of normal and atypical cerebral asymmetry, and the factors that influence it at the macrostructural level. Given the prominent role that cerebral asymmetry plays in the organization of the brain, and its possible implication in neurodevelopmental and psychiatric conditions, further research in this area is anticipated.

The Leningrad Siege Study investigated the relationship between decreased maternal food intake and risk factors for coronary heart disease in adult life. The study screened 169 subjects exposed to intrauterine starvation during the Siege of Leningrad (now St Petersburg) 1941–4, 192 subjects born in Leningrad before the siege and 188 subjects born concurrently with these two groups but outside the area of the siege. No difference was found between the subjects exposed to starvation in utero and during infancy in glucose tolerance [in utero: 5.2 mmol/l (95% confidence interval 5.1 to 5.3; infancy: 5.3 (5.1 to 5.5), p = 0.94], insulin concentration, blood pressure, lipid concentration or coagulation factors. The intrauterine exposed group had evidence of endothelial dysfunction by higher concentrations of von Willebrand factor and a stronger interaction between adult obesity and blood pressure. Non-systematic differences in subscapular to triceps skinfold ratio, diastolic blood pressure and clotting factors were demonstrated compared to the non-exposed groups. In conclusion, this study did not find an association between intrauterine starvation and glucose intolerance, dyslipidaemia, hypertension or cardiovascular disease in adult life. These findings differ from studies of subjects exposed to maternal starvation during the Dutch Hunger Winter. However, the dissimilar effects of exposure to the two famines may contribute to our understanding of the mechanisms of the ‘thrifty phenotype’ and support the importance of catch-up growth during early childhood, a situation that occurred in the Netherlands but not in Leningrad.

In the classic twin design, estimation of genetic and environmental effects is based on the assumption that environmental influences are shared to the same extent by monozygotic and dizygotic twins (equal environment assumption, EEA). We explore the conditions in which the EEA can be tested based on multivariate phenotypic data. We focus on the test whether the correlation between shared environmental factors in dizygotic twins (rC) is less than 1. First, model identification was investigated analytically in Maple and Mx. Second, statistical power was examined in Mx. Third, the amount of bias caused by violation of the EEA was evaluated. Finally, applications to empirical data concern spatial ability in adolescents and aggression in children. Bivariate and trivariate models include several instances in which the EEA can be tested. The number of twin pairs that is needed to detect violation of the EEA with a statistical power of .80 (α = .05) varied between 508 and 3576 pairs for the situations considered. The bias in parameter estimates, given misspecification, ranged from 5% to 34% for additive genetic effects, and from 4% to 34% for shared environmental effects. Estimates of the nonshared environmental effects were not biased. The EEA was not violated for spatial ability or aggression. Multivariate data provide sufficient information to test the validity of the EEA. The number of twin pairs that is needed is no greater than the number typically available in most twin registries. The analysis of spatial ability and aggression indicated no detectable violation of the EEA.

Previous research has demonstrated a link between attention-deficit/hyperactivity disorder (ADHD), developmental coordination disorder (DCD), and depression. The present study utilized a monozygotic (MZ) differences design to investigate differences in depressive symptomatology between MZ twins discordant for ADHD or DCD. This extends previous research as it controls for genetic effects and shared environmental influences and enables the investigation of nonshared environmental influences. In addition, children and adolescents with comorbid ADHD and DCD were compared on their level of depressive symptomatology to those with ADHD only, DCD only, and no ADHD or DCD. The parent-rated Strengths and Weaknesses of ADHD Symptoms and Normal Behavior, Developmental Coordination Disorder Questionnaire, and Sad Affect Scale were used to assess ADHD, DCD, and depressive symptomatology respectively. The results revealed higher levels of depressive symptomatology in MZ twins with ADHD or DCD compared to their nonaffected co-twins. In addition, children and adolescents with comorbid ADHD and DCD demonstrated higher levels of depressive symptomatology compared to those with ADHD only, DCD only, and no ADHD or DCD. The implications of these findings are discussed with emphasis on understanding and recognizing the relationship between ADHD, DCD, and depression in the assessment and intervention for children and adolescents with these disorders.

We have rated eye color on a 3-point scale (1 = blue/grey, 2 = hazel/green, 3 = brown) in 502 twin families and carried out a 5–10 cM genome scan (400–757 markers). We analyzed eye color as a threshold trait and performed multipoint sib pair linkage analysis using variance components analysis in Mx. A lod of 19.2 was found at the marker D15S1002, less than 1 cM from OCA2, which has been previously implicated in eye color variation. We estimate that 74% of variance in eye color liability is due to this QTL and a further 18% due to polygenic effects. However, a large shoulder on this peak suggests that other loci affecting eye color may be telomeric of OCA2 and inflating the QTL estimate. No other peaks reached genome-wide significance, although lods > 2 were seen on 5p and 14q and lods >1 were additionally seen on chromosomes 2, 3, 6, 7, 8, 9, 17 and 18. Most of these secondary peaks were reduced or eliminated when we repeated the scan as a two locus analysis with the 15q linkage included, although this does not necessarily exclude them as false positives. We also estimated the interaction between the 15q QTL and the other marker locus but there was only minor evidence for additive [.dotmath] additive epistasis. Elaborating the analysis to the full two-locus model including non-additive main effects and interactions did not strengthen the evidence for epistasis. We conclude that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci.

Amultidisciplinary collaborative study examining cognition in a large sample of twins is outlined. A common experimental protocol and design is used in The Netherlands, Australia and Japan to measure cognitive ability using traditional IQ measures (i.e., psychometric IQ), processing speed (e.g., reaction time [RT] and inspection time [IT]), and working memory (e.g., spatial span, delayed response [DR] performance). The main aim is to investigate the genetic covariation among these cognitive phenotypes in order to use the correlated biological markers in future linkage and association analyses to detect quantitativetrait loci (QTLs). We outline the study and methodology, and report results from our preliminary analyses that examines the heritability of processing speed and working memory indices, and their phenotypic correlation with IQ. Heritability of Full Scale IQ was 87% in the Netherlands, 83% in Australia, and 71% in Japan. Heritability estimates for processing speed and working memory indices ranged from 33–64%. Associations of IQ with RT and IT (−0.28 to −0.36) replicated previous findings with those of higher cognitive ability showing faster speed of processing. Similarly, significant correlations were indicated between IQ and the spatial span working memory task (storage [0.31], executive processing [0.37]) and the DR working memory task (0.25), with those of higher cognitive ability showing better memory performance. These analyses establish the heritability of the processing speed and working memory measures to be used in our collaborative twin study of cognition, and support the findings that individual differences in processing speed and working memory may underlie individual differences in psychometric IQ.

Since the Swedish Twin Registry was first established in the late 1950s to study the importance of smoking and alcohol consumption on cancer and cardiovascular diseases, it has been expanded and updated on several occasions. The focus has similarly broadened to most common complex diseases. The content of the database is described, ongoing projects based on the registry are summarized, and we review some of the principal findings on aging, cancer and cardiovascular disease that have come from the registry. Ongoing efforts and future plans for the STR are discussed. Among others, we plan blood collection and genotyping to study the genetic bases of complex diseases, a first contact ever with the cohorts born after 1958, and in-depth studies of selected diseases, such as Parkinson’s disease and chronic fatigue syndrome.

The design and interpretation of genetic association studies depends on the relationship between the genotyped variants and the underlying functional variant, often parameterized as the squared correlation or r2 measure of linkage disequilibrium between two loci. While it has long been recognized that placing a constraint on the r2 between two loci also places a constraint on the difference in frequencies between the coupled alleles, this constraint has not been quantified. Here, quantification of this severe constraint is presented. For example, for r2 ≥ .8, the maximum difference in allele frequency is ± .06 which occurs when one locus has allele frequency .5. For r2 ≥ .8 and allele frequency at one locus of .1, the maximum difference in allele frequency at the second locus is only ± .02. The impact on the design and interpretation of association studies is discussed.

The Twins Early Development Study (TEDS) is a longitudinal twin study that recruited over 16,000 twin-pairs born between 1994 and 1996 in England and Wales through national birth records. More than 10,000 of these families are still engaged in the study. TEDS was and still is a representative sample of the population in England and Wales. Rich cognitive and emotional/behavioral data have been collected from the twins from infancy to emerging adulthood, with data collection at first contact and at ages 2, 3, 4, 7, 8, 9, 10, 12, 14, 16, 18 and 21, enabling longitudinal genetically sensitive analyses. Data have been collected from the twins themselves, from their parents and teachers, and from the UK National Pupil Database. Genotyped DNA data are available for 10,346 individuals (who are unrelated except for 3320 dizygotic co-twins). TEDS data have contributed to over 400 scientific papers involving more than 140 researchers in 50 research institutions. TEDS offers an outstanding resource for investigating cognitive and behavioral development across childhood and early adulthood and actively fosters scientific collaborations.