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比较全基因组关联研究的跨种族荟萃分析方法。

Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies.

机构信息

Saw Swee Hock School of Public Health.

出版信息

Hum Mol Genet. 2013 Jun 1;22(11):2303-11. doi: 10.1093/hmg/ddt064. Epub 2013 Feb 12.

DOI:10.1093/hmg/ddt064
PMID:23406875
Abstract

Genome-wide association studies (GWASs) have discovered thousands of variants that are associated with human health and disease. Whilst early GWASs have primarily focused on genetically homogeneous populations of European, East Asian and South Asian ancestries, the next-generation genome-wide surveys are starting to pool studies from ethnically diverse populations within a single meta-analysis. However, classical epidemiological strategies for meta-analyses that assume fixed- or random-effects may not be the most suitable approaches to combine GWAS findings as these either confer low statistical power or identify mostly loci where the variants carry homogeneous effect sizes that are present in most of the studies. In a trans-ethnic meta-analysis, it is likely that some genetic loci will exhibit heterogeneous effect sizes across the populations. This may be due to differences in study designs, differences arising from the interactions with other genetic variants, or genuine biological differences attributed to environmental, dietary or lifestyle factors that modulate the influence of the genes. Here we compare different strategies for meta-analyzing GWAS across genetically diverse populations, where we intentionally vary the effect sizes present across the different populations. We subsequently applied the methods that yielded the highest statistical power to a trans-ethnic meta-analysis of seven GWAS in type 2 diabetes, and showed that these methods identified bona fide associations that would otherwise have been missed by the classical strategies.

摘要

全基因组关联研究(GWAS)已经发现了数千种与人类健康和疾病相关的变体。虽然早期的 GWAS 主要集中在遗传同质的欧洲、东亚和南亚人群中,但下一代全基因组调查开始在单一荟萃分析中汇集来自不同种族的研究。然而,经典的荟萃分析策略假设固定或随机效应可能不是组合 GWAS 发现的最合适方法,因为这些方法要么赋予低统计能力,要么识别出大多数变体携带同质效应大小的位点,这些位点存在于大多数研究中。在跨种族荟萃分析中,一些遗传位点可能在不同人群中表现出异质效应大小。这可能是由于研究设计的差异、与其他遗传变异相互作用引起的差异,或者归因于环境、饮食或生活方式因素调节基因影响的真正生物学差异。在这里,我们比较了在遗传多样化人群中进行 GWAS 荟萃分析的不同策略,其中我们有意在不同人群中改变存在的效应大小。随后,我们将产生最高统计能力的方法应用于 2 型糖尿病的七种 GWAS 的跨种族荟萃分析,并表明这些方法识别了真实的关联,否则这些关联将被经典策略所遗漏。

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