The success of the genome-wide association approach: a brief story of a long struggle

被引：81

作者：

Seng, Ku Chee ^{[1
]}

Seng, Chia Kee ^{[1
]}

机构：

[1] Natl Univ Singapore, Yong Loo Lin Sch Med, Ctr Mol Epidemiol, Singapore 117597, Singapore

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2008年 / 16卷 / 05期

关键词：

genome-wide association; complex diseases; linkage disequilibrium; haplotype-tagging SNPs; copy number variations; International HapMap Project;

D O I：

10.1038/ejhg.2008.12

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The genome-wide association approach has been the most powerful and efficient study design thus far in identifying genetic variants that are associated with complex human diseases. This approach became feasible as the result of several key advancements in genetic knowledge, genotyping technologies, statistical analysis algorithms and the availability of large collections of cases and controls. With all these necessary tools in hand, many genome-wide association studies were recently completed, and many more studies which will explore the genetic basis of various complex diseases and quantitative traits are soon to come. This approach has started to reap the fruits of its labor over the past several months. Publications of genome- wide association studies in several complex diseases such as inflammatory bowel disease, type-2 diabetes, breast cancer and prostate cancer have been abundant in the first half of this year. The aims of this review are firstly, to provide a timely summary for most of the genome- wide association studies that have been published until June/July 2007 and secondly, to evaluate to what extent these results have been validated in subsequent replication studies.

引用

页码：554 / 564

页数：11

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