Association of single-nucleotide polymorphism rs4236601 near caveolin 1 and 2 with primary open-angle glaucoma: a meta-analysis

Background: To clarify the effects of a single-nucleotide polymorphism, rs4236601[A] near caveolin 1 and 2, on primary open-angle glaucoma (POAG) risk.

Design: Meta-analysis.

Participants: A total of 5774 patients and 40 598 controls from previously reported case-control studies were included.

Methods: A comprehensive literature search was performed for studies published up to April 2013. Summary odds ratios (ORs) and 95% confidence intervals (CI) were calculated, employing random- or fixed-effects models according to between-study heterogeneity. Publication bias of the literature articles was evaluated using funnel plots and Egger's test.

Main outcome measures: OR for the effects of rs4236601[A] on POAG risk.

Results: Five eligible studies were included in this meta-analysis. Overall, the association between rs4236601[A] and risk for POAG was statistically significant (OR = 1.23, 95% CI 1.12-1.34; P < 0.001). Stratified analyses showed that the association between rs4236601[A] and POAG risk was statistically significant in Caucasians (OR = 1.25, 95% CI 1.18-1.33; P < 0.001) and Asians (OR = 3.33, 95% CI 1.56-7.08; P = 0.003) but not in Africans. Increased risks were found in age- and sex-matched studies (OR = 1.26, 95% CI 1.14-1.40; P < 0.001), but no statistically significant risk was found in unmatched studies.

Conclusions: This meta-analysis suggests that rs4236601[A] is associated with increased risk for POAG in Caucasian and Asian populations. However, well-designed gene-environment interaction studies and studies including more ethnic groups are required in further investigations.