Purpose: A large genome-wide association study showed that five new variants, {EPDR1 (rs3816415), CHAT (rs1258267), GLIS3 (rs736893), FERMT2 (rs7494379), and DPM2-FAM102A (rs3739821)}, were associated primary angle-closure glaucoma (PACG). Considering the shared clinical features between primary open-angle glaucoma (POAG) and PACG, this study was conducted to investigate the association of these genetic variants with POAG in a Han Chinese population.
Methods: A total 799 POAG patients and 799 controls are enrolled in this case-control study. All individuals were genotyped for the five single-nucleotide polymorphisms (SNPs) using ABI SNaPshot method. Four genetic models (homozygous, heterozygous, dominant, and recessive) were applied to further evaluate the possible correlation between the five SNPs and POAG.
Results: In our study, rs736893 in the GLIS3 gene was found to be associated with POAG (Bonferroni corrected p = .001, OR = 1.282, 95% CI = 1.103-1.491). Rs736893-AA and rs736893-AA/AG carriers showed an increase risk for POAG compared with rs736893-GG carriers (corrected p = .028, OR = 1.605, 95% CI = 1.137-2.267; corrected p = .012, OR = 1.349, 95% CI = 1.108-1.642; respectively) in homozygous and dominant models. For rs3816415 in the EPDR1 gene, rs3816415-AG and rs3816415-AA/AG carriers have a marginally lower risk than rs3816415-GG carriers (corrected p = .036, OR = 0.710, 95% CI = 0.548-0.919; corrected p = .04, OR = 0.718, 95% CI = 0.557-0.925) in heterozygous and dominant models.
Conclusion: Our findings indicated that GLIS3 (rs736893) was associated with POAG in this Chinese population. Further genetic epidemiologic studies and functional work are necessary to reveal their pathogenesis with POAG.
Keywords: PACG; POAG; association study; rs1258267; rs3739821; rs3816415; rs736893; rs7494379.