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Abstract #86686 Published in IGR 21-2
Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population
Li K; Yang C; Wan X; Xu J; Luo Q; Cheng Y; Peng J; Gong B; Jiang L; Liu Y; Shuai POphthalmic Genetics 2020; 41: 252-256
PURPOSE: A large genome-wide association study showed that five new variants, { (rs3816415), (rs1258267), (rs736893), (rs7494379), and (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 gene was found to be associated with POAG (Bonferroni corrected = .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 = .028, OR = 1.605, 95% CI = 1.137-2.267; corrected = .012, OR = 1.349, 95% CI = 1.108-1.642; respectively) in homozygous and dominant models. For rs3816415 in the gene, rs3816415-AG and rs3816415-AA/AG carriers have a marginally lower risk than rs3816415-GG carriers (corrected = .036, OR = 0.710, 95% CI = 0.548-0.919; corrected = .04, OR = 0.718, 95% CI = 0.557-0.925) in heterozygous and dominant models. CONCLUSION: Our findings indicated that (rs736893) was associated with POAG in this Chinese population. Further genetic epidemiologic studies and functional work are necessary to reveal their pathogenesis with POAG.
The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, Sichuan, China.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
