荟萃分析在全基因组关联研究中的作用。
The power of meta-analysis in genome-wide association studies.
机构信息
Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece; email:
出版信息
Annu Rev Genomics Hum Genet. 2013;14:441-65. doi: 10.1146/annurev-genom-091212-153520. Epub 2013 May 24.
Abstract
Meta-analysis of multiple genome-wide association (GWA) studies has become common practice over the past few years. The main advantage of this technique is the maximization of power to detect subtle genetic effects for common traits. Moreover, one can use meta-analysis to probe and identify heterogeneity in the effect sizes across the combined studies. In this review, we systematically appraise and evaluate the characteristics of GWA meta-analyses with 10,000 or more subjects published up to June 2012. We provide an overview of the current landscape of variants discovered by GWA meta-analyses, and we discuss and assess with extrapolations from empirical data the value of larger meta-analyses for the discovery of additional genetic associations and new biology in the future. Finally, we discuss some emerging logistical and practical issues related to the conduct of meta-analysis of GWA studies.
摘要
近年来，对多个全基因组关联 (GWA) 研究进行荟萃分析已成为一种常见做法。这种技术的主要优势在于最大限度地提高了检测常见特征的细微遗传效应的能力。此外，人们可以使用荟萃分析来探究和识别合并研究中效应大小的异质性。在这篇综述中，我们系统地评估和评价了截至 2012 年 6 月发表的包含 10000 个或更多个体的 GWA 荟萃分析的特点。我们概述了 GWA 荟萃分析发现的变异的当前情况，并根据经验数据的推断，讨论和评估了更大的荟萃分析在未来发现更多遗传关联和新生物学方面的价值。最后，我们讨论了与 GWA 研究荟萃分析相关的一些新出现的逻辑和实际问题。
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