ArticleHuman heredity2008
Power of genetic association studies in the presence of linkage disequilibrium and allelic heterogeneity.
Article in Human heredity, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- Diversity of Intestinal Macrophages in Inflammatory Bowel Diseases.Frontiers in immunology · 2015Review
- Failure to detect significant association between estrogen receptor-alpha gene polymorphisms and endometriosis in Japanese women.Environmental health and preventive medicine · 2012Article
- An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity.European journal of human genetics : EJHG · 2012Article
- Role of genetics in the diagnosis and prognosis of Crohn's disease.World journal of gastroenterology · 2012Review
- Role of genetics in the diagnosis and prognosis of Crohn's disease.World journal of gastroenterology · 2011Review
- Defining the power limits of genome-wide association scan meta-analyses.Genetic epidemiology · 2011Article
- FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression.Movement disorders : official journal of the Movement Disorder Society · 2009Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
objectivesThe calculation of the power and sample size required for association studies is essential, particularly for follow-up of genome-wide association studies, where much genotyping is required to replicate the original finding and identify the true disease susceptibility mutation.
methodsIn 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) with the true mutation. Using data from NOD2 and PTPN22, we show that the true sample sizes required to detect association may be incorrect when calculated under the assumption of a single mutation and complete LD with the genotyped marker.
resultsThe true sample sizes may be lower when allelic heterogeneity acts in a recessive model across mutations, or increased when mutations lie on different alleles of a common tagging SNP.
conclusionCalculating power and sample size under a range of realistic models of LD and allelic heterogeneity is essential to ensure that association studies have sufficient power to detect mutations.
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