全基因组关联研究：理论与实际问题

Genome-wide association studies: theoretical and practical concerns.

作者信息

Wang William Y S, Barratt Bryan J, Clayton David G, Todd John A

机构信息

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, UK.

出版信息

Nat Rev Genet. 2005 Feb;6(2):109-18. doi: 10.1038/nrg1522.

DOI:10.1038/nrg1522

PMID:15716907

Abstract

To fully understand the allelic variation that underlies common diseases, complete genome sequencing for many individuals with and without disease is required. This is still not technically feasible. However, recently it has become possible to carry out partial surveys of the genome by genotyping large numbers of common SNPs in genome-wide association studies. Here, we outline the main factors - including models of the allelic architecture of common diseases, sample size, map density and sample-collection biases - that need to be taken into account in order to optimize the cost efficiency of identifying genuine disease-susceptibility loci.

摘要

为了全面了解常见疾病背后的等位基因变异，需要对许多患病人群和未患病人群进行全基因组测序。但从技术角度而言，这仍然不可行。然而，最近在全基因组关联研究中，通过对大量常见单核苷酸多态性（SNP）进行基因分型来开展基因组的部分检测已成为可能。在此，我们概述了一些主要因素——包括常见疾病的等位基因结构模型、样本量、图谱密度和样本收集偏差等，为了优化识别真正疾病易感位点的成本效益，需要将这些因素考虑在内。