Genetic associations in PLEKHA7 and COL11A1 with primary angle closure glaucoma: a meta-analysis

Background: Single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7 and rs3753841 in COL11A1 were identified to be associated with primary angle closure glaucoma (PACG) by a recent large genome-wide association study. This present study is to evaluate the association of PLEKHA7 rs11024102 and COL11A1 rs3753841 with PACG.

Design: A systematic review and meta-analysis.

Participants: A total of 25 271 subjects (4895 PACG patients and 20 376 controls) in different ethnicities were tested for PLEKHA7 rs11024102 and COL11A1 rs3753841.

Methods: A comprehensive literature search was conducted on studies published up to July 2014. Summary odds ratios (ORs) and 95% confidence intervals were analysed. Publication bias of the included articles was evaluated using funnel plots and Egger's test.

Main outcome measures: OR for the effects of PLEKHA7 rs11024102 and COL11A1 rs3753841 on PACG risk.

Results: Four eligible articles were included in this study for meta-analysis. The overall result showed that SNPs rs11024102 and rs3753841 were statistically associated with PACG (P < 0.001) in fixed-effects model. Stratified analyses showed that the association of PLEKHA7 rs11024102 and COL11A1 rs3753841 with PACG was statistically significant in Asian population (including South Indian cohort) (P < 0.001). In Caucasian population, significant association of COL11A1 rs3753841 with PACG was detected (P = 0.004), but PLEKHA7 rs11024102 did not show any association with PACG (P = 0.140).

Conclusions: This meta-analysis suggests that PLEKHA7 rs11024102 is associated with PACG in Asian population and COL11A1 rs3753841 has a genetic association with the development of PACG both in Caucasian and Asian populations.