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Primary open angle glaucoma (POAG) is one of leading causes of adult blindness worldwide. To identify genetic variants associated with susceptibility to POAG, we conducted a genome-wide association study (GWAS) using 1394 cases and 6599 controls. Subsequently, we analyzed 33 single nucleotide polymorphisms (SNPs) which showed suggestive association ( P  &lt; 1 × 10 −4 ) by GWAS, using an additional set of 1802 cases and 7212 controls. In addition to confirmation of the association of the chromosome 9p21 locus [rs1063192,  P = 5.2 × 10 −11 , odds ratio (OR) = 0.75], and 14q23 (rs10483727,  P  = 9.49 × 10 −8 , OR = 0.79) with POAG in Caucasians reported recently, we identified a suggestive-associated locus on 2q21 (rs7588567,  P  = 3.89 × 10 −7 , OR = 0.85). For these described SNPs, minor alleles are suspected to have a protective effect from the disease. An linkage disequilibrium block containing rs10483727 includes the  SIX6  gene that was implicated to have a critical role in eye development, and genes in both represented loci ( SIX6  on chromosome 14q23, and  CDKN2A-CDKN2B  on chromosome 9p21) are known to be expressed in human ocular tissues, including the retina. Our GWAS results should contribute to better insight into the genetic basis of POAG.

A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma