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Abstract #81399 Published in IGR 20-3

Association of polymorphism rs11656696 in with primary open-Angle Glaucoma in a Chinese Population

Xu J; Luo H; Yu M; Yang C; Shu Y; Gong B; Lin Y; Wang J
Ophthalmic Genetics 2019; 40: 237-241


: It has been shown that genetic factors play an important role in the pathogenesis of primary open-angle glaucoma (POAG). This study was conducted to investigate the association between the polymorphism rs11656696 located in the growth arrest-specific 7 gene () and POAG. : A cohort of 799 unrelated POAG patients and 799 unrelated control subjects was enrolled in this case-control association study. The polymorphism rs11656696 was genotyped using the SNaPshot method. The genotype and allele frequencies were evaluated using the χ tests. : The allele frequency distribution of rs11656696 in the gene showed that there was significant difference between POAG cases and controls (= .006448, OR = 0.82, 95%CI = (0.72-0.95). The minor "A" allele frequency of this polymorphism was 0.477 in the POAG cases, whereas it was 0.526 in controls, suggesting a protective effect for POAG. Significant associations were detected under the homozygous model ( = .006425, OR = 0.68, 95%CI = 0.51-0.90) and recessive model ( = .0003432, OR = 0.66, 95%CI = 0.52-0.84), indicating that subjects carrying rs11656696 AA genotype were less likely to suffer from POAG than those carrying AC/CC genotypes. : This case-control association study showed that polymorphism rs11656696 in is related to POAG and might be a protective factor against POAG.

a School of Clinic Medicine , Southwest Medical University , Luzhou , Sichuan , China.

Full article

Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)



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