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Li Jia Chen, Pancy O.S. Tam, Chi Pui Pang; Revisit the association of CAV1/CAV2 with primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6236.
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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.
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.
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.
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.
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