ArticleAmerican journal of human genetics2005
Rational inferences about departures from Hardy-Weinberg equilibrium.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 170 papers, 15 of them syntheses that pooled it.
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Who cites it
170 citing papers in PubMed, 15 syntheses or guidelines pooled it.
- Lack of association between polymorphism of IL-2 -330T/G and pulmonary tuberculosis among Caucasians.Innate immunity · 2020Pooled it
- HLA genotypes and cold medicine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis with severe ocular complications: a systematic review and meta-analysis.Scientific reports · 2020Pooled it
- Meta-Prediction of MTHFR Gene Polymorphism and Air Pollution on the Risks of Congenital Heart Defects Worldwide: A Transgenerational Analysis.International journal of environmental research and public health · 2018Pooled it
- New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation.The pharmacogenomics journal · 2018Pooled it
- Meta-Prediction of MTHFR Gene Polymorphism Mutations and Associated Risk for Colorectal Cancer.Biological research for nursing · 2016Pooled it
- Integrative Review of Genetic Factors Influencing Neurodevelopmental Outcomes in Preterm Infants.Biological research for nursing · 2016Pooled it
- Meta-analysis of genetic association studies.Annals of laboratory medicine · 2015Pooled it
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- Association of GSTP1 Ile105Val polymorphism and risk of head and neck cancers: a meta-analysis of 28 case-control studies.PloS one · 2012Pooled it
- Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis.PLoS medicine · 2012Pooled it
- FTO gene polymorphisms and obesity risk: a meta-analysis.BMC medicine · 2011Pooled it
- Polymorphisms of CYP1A1 and GSTM1 and laryngeal cancer risk: evidence-based meta-analyses.Journal of cancer research and clinical oncology · 2009Pooled it
- GSTM1 and GSTT1 polymorphisms and nasopharyngeal cancer risk: an evidence-based meta-analysis.Journal of experimental & clinical cancer research : CR · 2009Pooled it
- Hardy-Weinberg analysis of a large set of published association studies reveals genotyping error and a deficit of heterozygotes across multiple loci.Human genomics · 2008Pooled it
- Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.Molecular psychiatry · 2011Trial
- Genomewide association for schizophrenia in the CATIE study: results of stage 1.Molecular psychiatry · 2008Trial
- Ethnic stratification of the association of RGS4 variants with antipsychotic treatment response in schizophrenia.Biological psychiatry · 2008Trial
- Assessing Hardy-Weinberg equilibrium in T2T-aligned 1000 genomes project.PLoS genetics · 2026Article
- Article
110 more citing papers are in PubMed but not listed here.
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3 authors.
Funding
Abstract
Previous studies have explored the use of departure from Hardy-Weinberg equilibrium (DHW) for fine mapping Mendelian disorders and for general fine mapping. Other studies have used Hardy-Weinberg tests for genotyping quality control. To enable investigators to make rational decisions about whether DHW is due to genotyping error or to underlying biology, we developed an analytic framework and software to determine the parameter values for which DHW might be expected for common diseases. We show analytically that, for a general disease model, the difference between population and Hardy-Weinberg expected genotypic frequencies (delta) at the susceptibility locus is a function of the susceptibility-allele frequency (q), heterozygote relative risk (beta), and homozygote relative risk (gamma). For unaffected control samples, is a function of risk in nonsusceptible homozygotes (alpha), the population prevalence of disease (KP), q, beta, and gamma. We used these analytic functions to calculate and the number of cases or controls needed to detect DHW for a range of genetic models consistent with common diseases (1.1 < or = gamma < or = 10 and 0.005 < or = KP < or = 0.2). Results suggest that significant DHW can be expected in relatively small samples of patients over a range of genetic models. We also propose a goodness-of-fit test to aid investigators in determining whether a DHW observed in the context of a case-control study is consistent with a genetic disease model. We illustrate how the analytic framework and software can be used to help investigators interpret DHW in the context of association studies of common diseases.
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