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J Hum Genet. 2010 Apr;55(4):195-206. doi: 10.1038/jhg.2010.19. Epub 2010 Mar 19.

The pursuit of genome-wide association studies: where are we now?

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Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, Centre for Molecular Epidemiology, National University of Singapore, Singapore.


It is now 5 years since the first genome-wide association studies (GWAS), published in 2005, identified a common risk allele with large effect size for age-related macular degeneration in a small sample set. Following this exciting finding, researchers have become optimistic about the prospect of the genome-wide association approach. However, most of the risk alleles identified in the subsequent GWAS for various complex diseases are common with small effect sizes (odds ratio <1.5). So far, more than 450 GWAS have been published and the associations of greater than 2000 single nucleotide polymorphisms (SNPs) or genetic loci were reported. The aim of this review paper is to give an overview of the evolving field of GWAS, discuss the progress that has been made by GWAS and some of the interesting findings, and summarize what we have learned over the past 5 years about the genetic basis of human complex diseases. This review will focus on GWAS of SNPs association for complex diseases but not studies of copy number variations.

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