Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects

• Published in: Irish journal of medical science Vol. 191; no. 5; pp. 2385 - 2392
• Main Authors: Liu, Shanshan, Chen, Siwen, Niu, Tongtong
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.10.2022
• Subjects: Family Medicine; General Practice; Internal Medicine; Medicine; Medicine & Public Health; Original; Original Article; CDKN2B-AS1; Primary open-angle glaucoma; Meta-analysis; Polymorphism
• ISSN: 0021-1265; 1863-4362; 1863-4362
• DOI: 10.1007/s11845-021-02794-x

Background Primary open-angle glaucoma (POAG) is affected by both genetics and environmental factors. CDKN2B-AS1 polymorphisms have been reported to be involved in the pathogenesis of POAG. However, the results of the genetic associations between the CDKN2B-AS1 polymorphisms and POAG risk were inconclusive. Aims This study aimed to evaluate the correlation of CDKN2B-AS1 polymorphisms and POAG susceptibility using a meta-analysis. Methods Meta-analysis was performed by searching PubMed, Web of science, the Cochrane database of system reviews, CNKI, and Embase databases. The relationship of CDKN2B-AS1 rs4977756, rs10120688, rs2157719, and rs7049105 polymorphisms and POAG risk was evaluated by the odds ratios (ORs) and 95% confidence intervals (CIs). Results Eleven studies with 8290 cases and 13,485 controls were included in the present meta-analysis. The alleles of rs4977756 and rs10120688 significantly increased the risk of POAG (rs4977756: OR = 1.20, 95%CI = 1.03–1.39, p  = 0.02; rs10120688: OR = 1.36, 95%CI = 1.29–1.44, p  < 0.00001). As for ethnicity, rs4977756 polymorphism significantly increased POAG risk in Caucasians (OR = 1.33, 95%CI = 1.12–1.57, p  = 0.0009), but not in Asians. In addition, the rs2157719 allele was significantly associated with POAG risk in Asians (OR = 0.66, 95%CI = 0.55–0.80, p  < 0.0001), but not in Caucasians ( p  > 0.05). Conclusions The CDKN2B-AS1 rs4977756 might increase the POAG risk in Caucasian population, and rs2157719 might decrease the POAG risk in Asian population, while rs10120688 might increase the risk of POAG.