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Chunk #3 — Introduction

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Genome-wide association study of primary open angle glaucoma risk and quantitative traits.
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Genome-wide association studies (GWAS) have been performed in a wide range of complex diseases, including diabetes, age-related macular degeneration, Crohn’s disease and bipolar disorder [19,20]. Many common variants have been reproducibly associated with these and many other common diseases. GWAS has therefore been the principal strategy employed, over the last few years, to uncover the genetics of complex traits. We performed a GWAS of risk in 387 POAG patients and 5,830 Wellcome trust case controls consortium (WTCCC2) controls and assessed genetic correlation with quantitative ocular traits in these 387 cases and 50 Southampton controls. We then followed up promising single nucleotide polymorphisms (SNPs) in a further 294 POAG patients.