A common genetic variant as an effect modifier for primary angle closure glaucoma

作者:Bai, Hua; Liu, Hui; Wang, Juan; Ling, Guohui; Huang, Yifei*
来源:International Journal of Clinical and Experimental Medicine, 2015, 8(1): 883-889.

摘要

Background: Epidemiological studies provide evidence of a genetic basis for primary angle closure glaucoma (PACG), and genome-wide association studies (GWAS) have identified various candidate genes as susceptibility loci. However, different results produced by previous studies make the role of a common genetic variant in the COL11A1 gene (rs3753841) remains elusive. Thus, we carried out a meta-analysis, attempting to determine the association of rs3753841 with PACG. Methods: Potentially relevant studies were identified by systematical computer-based searches. Selection of eligible studies was undertaken by two investigators according to inclusion criteria. The DerSimonian and Laird's method was performed to estimate pooled odds ratios (risk of PACG) under distinct genetic models. Heterogeneity was measured using the chi-square-based Q statistic test and I-2 metric. Results: We found a significant association of COL11A1 rs3753841 with PACG among 26,365 subjects (5,594 cases and 20,771 controls) with Asian or Caucasian ancestry derived from a total of 15 studies. The association was more pronounced in individuals with the GG genotype (GG vs AA: odds ratio 1.26, 95% confidence interval 1.13-1.41; GG vs GA + AA: odds ratio 1.24, 95% confidence interval 1.12-1.38). In the stratified analyses, the statistical significance was retailed in Asians and the studies without Hardy-Weinberg equilibrium. Conclusion: Our meta-analysis including the large-scale study suggest that COL11A1 variant rs3753841 may confer higher susceptibility to PACG and provide additional insight into the mechanisms that underlie this most common subtype of glaucoma.