Human Molecular Genetics · 2015 · 119 citations · 38 references
Life SciencesGeneticsOphthalmologyHuman GeneticsMedical GeneticsOcular GeneticsGenome-wide Association StudiesGenotype-phenotype Association AnalysisGlaucomaCommon Variant AnalysisCommon Variant ContributionCommon Variant EffectsComplex Disease GeneticsComplex Disease PhenotypingGenetic Causes Of GlaucomaOcular Phenotype CorrelationSnp Discovery
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
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Haploview: analysis and visualization of LD and haplotype maps
Jeffrey C. Barrett, Ben Fry, Julian Maller et al. · Bioinformatics · 2004 · 14.7K citations · Full text
Principal components analysis corrects for stratification in genome-wide association studies
Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al. · Nature Genetics · 2006 · 10.7K citations