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Background Single nucleotide polymorphisms ( SNPs) rs11024102 in PLEKHA 7 and rs3753841 in COL 11 A 1 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 PLEKHA 7 rs11024102 and COL 11 A 1 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 PLEKHA 7 rs11024102 and COL 11 A 1 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 PLEKHA 7 rs11024102 and COL 11 A 1 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 PLEKHA 7 rs11024102 and COL 11 A 1 rs3753841 with PACG was statistically significant in Asian population (including South Indian cohort) ( P < 0.001). In Caucasian population, significant association of COL 11 A 1 rs3753841 with PACG was detected ( P = 0.004), but PLEKHA 7 rs11024102 did not show any association with PACG ( P = 0.140). Conclusions This meta-analysis suggests that PLEKHA 7 rs11024102 is associated with PACG in Asian population and COL 11 A 1 rs3753841 has a genetic association with the development of PACG both in Caucasian and Asian populations. [ABSTRACT FROM AUTHOR]

Cingulin, paracingulin, and PLEKHA7 are proteins localized in the cytoplasmic region of the apical junctional complex of vertebrate epithelial cells. Cingulin has been detected at tight junctions (TJs), whereas paracingulin has been detected at both TJs and adherens junctions (AJs) and PLEKHA7 has been detected at AJs. One function of cingulin and paracingulin is to regulate the activity of Rho family GTPases at junctions through their direct interaction with guanidine exchange factors of RhoA and Rac1. Cingulin also contributes to the regulation of transcription of several genes in different types of cultured cells, in part through its ability to modulate RhoA activity. PLEKHA7, together with paracingulin, is part of a protein complex that links E-cadherin to the microtubule cytoskeleton at AJs. In this paper, we review the current knowledge about these proteins, including their discovery, the characterization of their expression, localization, structure, molecular interactions, and their roles in different developmental and disease model systems. [ABSTRACT FROM AUTHOR]