... these SNP-environment interactions. However, these two methods do not consider genetic heterogeneity. We previously presented a random-effect MR, which provided higher power than the MR in datasets with high heterogeneity. However, this method requires group-level data, which sometimes are not available...

...Qinqin Jin; Gang Shi Meta-analyses are widely used in genome-wide association studies to combine the results obtained from multiple studies. Classical random-effects methods treat genetic heterogeneity as a random effect and consider it as a portion of the variance associated with a fixed effect...

...Zafar Iqbal; Hans van Bokhoven Consanguinity is an important determinant of birth defects including intellectual disability (ID). Consanguineous populations have a relative high prevalence of autosomal recessive forms of intellectual disability (ARID), which constitute a highly heterogeneous group...

...Yuanyuan Shen; Zhe Liu; Jurg Ott Background/Aims: In human case-control association studies, population heterogeneity is often present and can lead to increased false-positive results. Various methods have been proposed and are in current use to remedy this situation. Methods: We assume...

... is illustrated for gene expression phenotypes measured on 27 candidate genes previously demonstrated to show linkage in a sample of 14 families. 3 11 2009 25 01 2010 17 6 2010 Linkage Heterogeneity Haseman-Elston regression Latent class analysis Gene expression National...

...-analysis methods account for heterogeneity by down-weighting studies as a function of between-study variance. We contend that current approaches may obscure interesting phenomena in genetic association data. However, an appropriate approach to examining heterogeneity across studies is lacking. Methods: We...

... with an exhaustive approach. Previously unknown aspects of MDR performance were the power to detect interactive effects given large numbers of non-model loci or varying degrees of heterogeneity among multiple epistatic disease models. Methods: To address the performance with many non-model loci, datasets of 500...

...Martina Durner; David A. Greenberg; Susan E. Hodge In this study we explore whether a phenocopy frequency (defined as a ‘penetrance’ for nondisease genotypes) can approximate or model genetic heterogeneity in a single-locus analysis. We simulated two types of heterogeneity situations: ‘sporadic...

...Bart Janssen; Dicky Halley; Lodewijk Sandkuijl The admixture test (A-test) is a popular method for the analysis of linkage data when locus heterogeneity is suspected. It can be applied on pairwise linkage data, multipoint data and even for the simultaneous analysis of data from multiple dispersed...

...Jennifer E. Reynolds; Kathleen S. Arnos; Barbara Landa; Cathy A. Stevens; Bonnie A. Salbert; Laura Wright; Bettie Duke; Wanda Hunt; Mary L. Marazita; Lynn Ploughman; Charles MacLean; Walter E. Nance; Scott R. Diehl We performed linkage and locus heterogeneity analyses of Waardenburg syndrome (WS...

... (SMA) to chromosome 5q11.2–13.3, with evidence for nonallelic genetic heterogeneity within a small sample of seven families [Brzustowicz et al., Nature 1990;344:540–541]. We now report the results of linkage analysis and heterogeneity testing on a set of 38 families with chronic SMA. Significant...

.... As a possible solution, we propose the use of high disease allele frequencies, as this allows probabilistically for nonsegregation (through parental homozygosity or dual matings). We show analytically and through analysis of pedigree data simulated under a two-locus heterogeneity model that using a disease...

... susceptibility mutation. Methods: In this paper, we derive equations for estimation of sample sizes for the transmission disequilibrium test (TDT) and for case-control studies, in the presence of allelic heterogeneity and indirect association – where the genotyped tagging SNP is in linkage disequilibrium (LD...

...M. Govil; V.J. Vieland Objective: The PPL, a class of statistics for complex trait genetic mapping in humans, utilizes Bayesian sequential updating to accumulate evidence for or against linkage across potentially heterogeneous data (sub)sets. Here, we systematically explore the relative efficacy...

...Daniel J. Schaid; Jason P. Sinnwell; Stephen N. Thibodeau Background/Aims: Genetic linkage analysis of common diseases is complicated by the heterogeneity of genetic and environmental factors that increase disease risk, and possibly interactions among them. Most linkage methods that account...

... or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Replication Heterogeneity Inconsistency Bias Genome-wide association...

...: the Triangle Test Statistic (TTS) and the Predivided Sample Test (PST), to search for heterogeneity of linkage to 1p31 according to the affection status being defined by either the presence of the two diseases (asthma plus AR) or the presence of only one disease (‘asthma only’ or ‘AR only’ or ‘asthma only...

... heterogeneity underlying evidence for linkage to type 2 diabetes (T2DM) on chromosome 6q from two sets of FUSION families. Methods: Ordered subsets analysis (OSA) was performed on two sets of FUSION families. For OSA results showing significant improvement in evidence for linkage, T2DM-related phenotypes were...

... to in the content or advertisements. Autism Language impairment Multiple data sets Heterogeneity Linkage analysis National Institutes of Health (NIH) 10.13039/100000002 Original Paper Hum Hered 2004;57:10 20 DOI: 10.1159/000077385 Received: June 10, 2003 Accepted after revision: August 25...

...Claus Thorn Ekstrøm; Peter Dalgaard Variance component modeling for linkage analysis of quantitative traits is a powerful tool for detecting and locating genes affecting a trait of interest, but the presence of genetic heterogeneity will decrease the power of a linkage study and may even give...