Five Years of GWAS Discovery

被引：1627

作者：

Visscher, Peter M. ^{[1
,2
]}

Brown, Matthew A. ^{[1
]}

McCarthy, Mark I. ^{[3
,4
]}

Yang, Jian ^{[5
]}

机构：

[1] Univ Queensland, Diamantina Inst, Princess Alexandra Hosp, Brisbane, Qld 4102, Australia

[2] Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia

[3] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[4] Churchill Hosp, Oxford Ctr Diabet Endocrinol & Metab, Oxford OX3 7LJ, England

[5] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2012年 / 90卷 / 01期

基金：

澳大利亚研究理事会; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; BODY-MASS INDEX; DIABETES SUSCEPTIBILITY LOCI; REACTIVE PROTEIN-LEVELS; GENETIC-VARIATION; FASTING GLUCOSE; RARE VARIANTS; FTO GENE; ANKYLOSING-SPONDYLITIS; POPULATION-GENETICS;

D O I：

10.1016/j.ajhg.2011.11.029

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs). These studies were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders. We start by giving a number of quotes from scientists and journalists about perceived problems with GWASs. We will then briefly give the history of GWASs and focus on the discoveries made through this experimental design, what those discoveries tell us and do not tell us about the genetics and biology of complex traits, and what immediate utility has come out of these studies. Rather than giving an exhaustive review of all reported findings for all diseases and other complex traits, we focus on the results for auto-immune diseases and metabolic diseases. We return to the perceived failure or disappointment about GWASs in the concluding section.

引用

页码：7 / 24

页数：18

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