Selection of cases with additional affected relatives has been shown to increase the power of the case-control association design. We investigated whether this strategy can also improve the power of family-based association studies that use the transmission disequilibrium test (TDT), while accounting for the effects of residual polygenic and environmental ...

The present study is the first to utilize twin modeling to examine whether parent-teacher disagreement for ADHD ratings is due to parent or teacher bias, or due to raters observing different but valid ADHD behaviors. A joint analysis was conducted with 106 twin pairs, including twins selected for ADHD and ...

In human genetics, twin studies are widely underwent for investigation of the genetic influence on diseases. There are several measures that had been proposed to evaluate the similarity between two twins for dichotomous traits when the twins are sampled at random. These measures include the correlations, odds ratios, and casewise ...

All psychological and psychophysiological traits vary, often widely, about their stable set-point values, due to transitory environmental influences. Because it is this stable set-point that embodies the genetically determined component of the trait, twin and family data based on one-time trait measurements must underestimate true trait heritability. The means of ...

MOTIVATION: Microbial genomes undergo evolutionary processes such as gene family expansion and contraction, variable rates and patterns of sequence substitution and lateral genetic transfer. Simulation tools are essential for both the generation of data under different evolutionary models and the validation of analytical methods on such data. However, meaningful investigation ...

To examine the familial correlations, heritability (h(2)) and common environmental components (c(2)) of myopia and ocular biometric traits (all treated as continuous outcomes) in families collected through the Genes in Myopia (GEM) family study in Australia. A total of 132 pedigrees (723 participants) were recruited for this study. All individuals ...

BACKGROUND: The role of genetic and environmental factors for developing alexithymia is still unclear, and the aim of this study was to examine these factors in a large population-based sample of twins. METHODS: The Toronto Alexithymia Scale-20 (TAS-20) was included in a mail survey of 46,418 individuals born between 1931 ...

The anthropometric somatotype is a quantitative description of body shape and composition. Familial studies indicate the existence of a familial resemblance for this phenotype and they suggest a substantial action by genetic factors on this aggregation. The aim of this study is to examine the degree of familial resemblance of ...

This paper summarizes the contributions of group 8 to the Genetic Analysis Workshop 15. Group 8 focused on ways to address the possibility that genetic and environmental effects on phenotype may not be independent, but instead may interact in ways that could play important roles in determining phenotype. Among the ...

Family-based association approaches such as the transmission-disequilibrium test (TDT) are used extensively in the study of genetic traits because they are generally robust to the presence of population structure. However, these approaches necessarily involve recruitment of families, which is more costly and time-consuming than sampling unrelated individuals in the population-based ...

BACKGROUND: Drawing an informative pedigree is fundamental in genetic counselling. It is very common for some parts of pedigrees to remain ambiguous because of the proband's inability to recall the past history of her/his family. Current age, date of birth, date of death and age of diagnosis are the commonest ...

OBJECTIVE: Assess the differences in point estimates, power and type 1 error rates when accounting for and ignoring family structure in genetic tests of association. METHODS: We compare by simulation the performance of analytic models using variance components to account for family structure and regression models that ignore relatedness for ...

Models have been developed to predict the probability that a person carries a detectable germline mutation in the BRCA1 or BRCA2 genes. Their relative performance in a clinical setting is unclear. To compare the performance characteristics of four BRCA1/BRCA2 gene mutation prediction models: LAMBDA, based on a checklist and scores ...

A sequential study design generally makes more efficient use of available information than a fixed sample counterpart of equal power. This feature is gradually being exploited by researchers in genetic and epidemiological investigations that utilize banked biological resources and in studies where time, cost and ethics are prominent considerations. Recent ...

BACKGROUND: Theory and evidence strongly suggest that perfectionism may be a risk factor for eating disorders. The purpose of the current study was to investigate a model that would explain the relationship between the cognitive diagnostic criterion for both anorexia nervosa and bulimia nervosa, namely undue influence of body weight ...

Researchers conducting family-based association studies have a wide variety of transmission/disequilibrium (TD)-based methods to choose from, but few guidelines exist in the selection of a particular method to apply to available data. Using a simulation study design, we compared the power and type I error of eight popular TD-based methods ...

Multigenerational pedigrees provide an opportunity for assessing the effects of unobserved environmental and genetic effects on longevity (i.e., frailty). This article applies Cox proportional hazards models to data from three-generation pedigrees in the Utah Population Database using two different frailty specification schemes that account for common environments (shared frailty) and ...

BACKGROUND: The use of cannabis and other illicit drugs (OIDs) and their co-morbid misuse are frequently reported in the literature. Correlated vulnerabilities and causal or gateway influences have been implicated in this association. We investigated the source of this co-morbidity between cannabis use (experimentation, early and repeated use, and problems) ...

Primary adult-onset dystonia is thought to be partly genetic, but families large enough for a genome wide search are difficult to find. We examined the first-degree relatives of 76 primary adult-onset dystonia patients to assess the feasibility of model-free nonparametric methods that allow either screening of candidate loci (case-control design, ...

Entanglement is a necessary resource for quantum applications--entanglement established between quantum systems at different locations enables private communication and quantum teleportation, and facilitates quantum information processing. Distributed entanglement is established by preparing an entangled pair of quantum particles in one location, and transporting one member of the pair to another ...

BACKGROUND: Etiologic research on complex disorders including alcohol dependence requires informative phenotypes. Information is lost when categorical variables represent inherently dimensional conditions. We investigated the validity of DSM-IV alcohol dependence as a dimensional phenotype by examining evidence for linearity and thresholds in associations with validating variables. METHOD: Current drinkers in ...

The Consortium on the Genetics of Schizophrenia (COGS) is an ongoing, National Institute of Mental Health-funded, 7-site collaboration investigating the occurrence and genetic architecture of quantitative endophenotypes related to schizophrenia. The purpose of this article is to provide a description of the COGS structure and methods, including participant recruitment and ...

The goal of this study was to examine the links between difficult temperament (i.e., negative emotionality) and harsh parental discipline during toddlerhood, and reactive and proactive aggression in kindergarten. These links were assessed on a longitudinal population-based study of 1516 boys and girls followed longitudinally from the age of 17 ...

PURPOSE: This study developed measures of satisfaction with assisted living from residents' and family members' perspectives. DESIGN AND METHODS: We collected survey data from 204 residents and 232 family members associated with 11 assisted living facilities. We used confirmatory factor analysis to evaluate the goodness of fit of a priori ...

Evaluations of national family planning communication campaigns are often complicated by nonrandomized research designs and self-reported measures of exposure to media messages, both of which can bias estimates of campaign effectiveness if suitable analytical methods are not employed. This study uses three methods to address these problems: (1) single-equation multiple ...

In the regression analysis of clustered data it is important to allow for the possibility of distinct between- and within-cluster exposure effects on the outcome measure, represented, respectively, by regression coefficients for the cluster mean and the deviation of the individual-level exposure value from this mean. In twin data, the ...

Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed quantitative genetic analysis ...

It is estimated that 1.6 billion people worldwide have myopia, a refractive error, and this number is expected to increase to approximately 2.5 billion by the year 2020. It is now well established that both the environment and genetics play a role in the development of myopia. However, the exact ...

There is now little doubt that both environmental factors and genes are likely to make important contributions to the aetiology of specific language impairment (SLI). The most commonly proposed model for understanding these influences is the multifactorial model. In the present study we examine two expectations based on this model: ...

The most simple and commonly used approach for genetic associations is the case-control study design of unrelated people. This design is susceptible to population stratification. This problem is obviated in family-based studies, but it is usually difficult to accumulate large enough samples of well-characterized families. We addressed empirically whether the ...

The classification of twin pairs based on zygosity into monozygotic (MZ) or dizygotic (DZ) twins is the basis of most twin analyses. When zygosity information is unavailable, a normal finite mixture distribution (mixture distribution) model can be used to estimate components of variation for continuous traits. The main assumption of ...

Twin data can provide valuable insight into the relationship between the stages of phenomena such as disease or substance abuse. Initiation of substance use may be caused by factors that are the same as, partially shared with, or completely independent of those that cause progression from use to abuse. Comparison ...

Maximum likelihood estimation techniques are widely used in twin and family studies, but soon reach computational boundaries when applied to highly complex models (e.g., models including gene-by-environment interaction and gene-environment correlation, item response theory measurement models, repeated measures, longitudinal structures, extended pedigrees). Markov Chain Monte Carlo (MCMC) algorithms are very ...

Case-control studies augmented by the values of responses and covariates from family members allow investigators to study the association between the response and genetics and environment by relating differences in the response directly to within-family differences in covariates. However, existing approaches for case-control family data parameterize covariate effects in terms ...

In a recent article McArdle and Prescott (2005) showed how simultaneous estimation of the biometric parameters can be easily programmed using current mixed-effects modeling programs (e.g., SAS PROC MIXED). This article extends these concepts to deal with mixed-effect modeling of longitudinal twin data. The biometric basis of a polynomial growth ...

Twinning is a serious problem in Thoroughbred horses, as most of the multiple pregnancies are miscarried and live foals present lower performance values. The aim of this study was to estimate the heritability and repeatability of twinning in Thoroughbred horses. A total of 12648 pregnancies of 2033 Thoroughbred mares born ...

A central problem in research on twins is the estimation of the rates of monozygotic and dizygotic twin maternities. The estimation usually follows Weinberg's differential rule. According to this rule, the rate of dizygotic twinning is twice the rate of twin maternities in which the twins are of opposite sex. ...

This article discusses new latent variable techniques developed by the authors. As an illustration, a new factor mixture model is applied to the monozygotic-dizygotic twin analysis of binary items measuring alcohol-use disorder. In this model, heritability is simultaneously studied with respect to latent class membership and within-class severity dimensions. Different ...

Twin registries form an exceptionally rich source of information that is largely unexploited for phenotypic analyses. One obstacle to straightforward phenotypic statistical analysis is the inherent dependency, which is due to the clustering of cases within families. The present simulation study gauges the degree of the bias produced by the ...

Approaches such as DeFries-Fulker extremes regression (LaBuda et al., 1986) are commonly used in genetically informative studies to assess whether familial resemblance varies as a function of the scores of pairs of twins. While useful for detecting such effects, formal modeling of differences in variance components as a function of ...

Whereas the majority of research on adolescent sexual initiation has focused solely on environmental factors, the present study used behavioral genetic analyses to investigate the relative contributions of genetic and environmental influences. Structural equation models were fitted to data from adoptive and non-adoptive sibling pairs (231 biologically related pairs and ...

OBJECTIVE: There is a dose-response positive relationship between type A behavior (TABP) and cardiovascular disease-related symptoms. Estimates of heritability for TABP from previous studies vary; this might be explained by limitations in the sizes and compositions of the samples. METHODS: This study combines a large sample size, twin and parental, ...

OBJECTIVE: To conduct complex segregation analyses of Parkinson's disease (PD). METHODS: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD ...

This article presents a novel method for measuring the acute effects of alcohol. One hundred twenty nonproblem drinkers aged 21-28 participated in 3 alcohol administration sessions that produced peak blood alcohol concentrations (BACs) near .09 g%. Subjective intoxication ratings were taken at multiple points across rising and falling BACs. Mathematical ...

OBJECTIVE: The purpose of this study was to assess heritability of activity, attention, and impulsivity by comparing young monozygotic (MZ) twins with dizygotic (DZ) twins using objective measures. METHOD: The OPTAx test is an infrared motion analysis to record the movement pattern during a continuous performance test. Seventeen MZ and ...

Incomplete data on trait values may bias estimates of genetic and environmental variance components obtained from twin analyses. If the nonresponse mechanism is 'ignorable' then methods such as full information maximum likelihood estimation will produce consistent variance component estimates. If, however, nonresponse is 'nonignorable', then the situation is more complicated. ...

Accurate determination of same-sex twin zygosity is important for medical, scientific and personal reasons. Determination may be based upon questionnaire data, blood group, enzyme isoforms and fetal membrane examination, but assignment of zygosity must ultimately be confirmed by genotypic data. Here methods are reviewed for calculating average probabilities of correctly ...

The second to fourth finger length ratio (2d:4d) has been the subject of much recent work and is thought to be related to diverse gender and hormone-related traits including sports ability, disease susceptibility, attractiveness and sexuality. It is established in utero and remains constant in adulthood. Familial clustering has been ...

From fertilization to approximately the sixteenth day of development, human embryonic cells are said to have the capacities of totipotency and monozygotic twinning, both of which are problematic to a theory of ensoulment at fertilization. In this article I will address the problems which these capacities pose to such a ...

Most genetic studies recruit high risk families and the discoveries are based on non-random selected groups. We must consider the consequences of this ascertainment process in order to apply the results of genetic research to the general population. In previous reports, we developed a latent variable model to assess the ...