1. Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population
- Author
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Man Yu, Jiaxin Xu, Chen Yang, Huanchao Luo, Yin Lin, Bo Gong, Jin Wang, and Yi Shu
- Subjects
0301 basic medicine ,medicine.medical_specialty ,genetic structures ,Open angle glaucoma ,Protective factor ,Glaucoma ,030105 genetics & heredity ,Gastroenterology ,Pathogenesis ,03 medical and health sciences ,0302 clinical medicine ,Polymorphism (computer science) ,Internal medicine ,Genotype ,Medicine ,Allele frequency ,Genetics (clinical) ,business.industry ,medicine.disease ,eye diseases ,Ophthalmology ,Pediatrics, Perinatology and Child Health ,Cohort ,030221 ophthalmology & optometry ,sense organs ,business - Abstract
Background: 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 (GAS7) and POAG. Methods: 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 χ2 tests. Results: The allele frequency distribution of rs11656696 in the GAS7 gene showed that there was significant difference between POAG cases and controls (P= .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 (p = .006425, OR = 0.68, 95%CI = 0.51-0.90) and recessive model (p = .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. Conclusion: This case-control association study showed that polymorphism rs11656696 in GAS7 is related to POAG and might be a protective factor against POAG.
- Published
- 2019
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