Abstract
Purpose:
A genome-wide association study identified SNP rs4236601 near the CAV1 and CAV2 genes to be strongly associated with primary open angle glaucoma (POAG). However, results from follow-up studies remained controversial. In this study, we investigated the associations of 6 tag SNPs at the CAV1/CAV2 locus with POAG.
Methods:
We studied a total of 1572 unrelated Chinese Han individuals, including a cohort of 626 POAG and 546 controls from southern China, and 200 POAG and 200 controls from northern China. Six tag SNPs, including rs4236601, were genotyped by TaqMan technology.
Results:
Three SNPs showed mild associations with POAG in the southern cohort. The SNP rs4236601[AG] showed an significantly increased risk (OR=3.55), while another two SNPs showed reduced risks (OR=0.57 and 0.56). The haplotype block that contained rs4236601 and one protective SNP gave the strongest omnibus association. The haplotype G-C had a protective effect (OR=0.67), while A-T increased the risk of POAG (OR=3.52). When the southern and northern Chinese cohorts were combined, rs4236601[AG] remained significantly associated with POAG.
Conclusions:
While our results confirmed the association of rs4236601 with POAG, we also identified a protective SNP at the CAV1/CAV2 POAG locus. Results of this study suggest that the CAV1/CAV2 locus may contribute different roles to the mechanism of POAG.