机构：[1]School of Clinic Medicine, Southwest Medical University, Luzhou, Sichuan, China[2]Department of Clinical Laboratory, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China四川省人民医院四川省肿瘤医院[3]Department of Ophthalmology, 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四川省人民医院[4]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四川省人民医院
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 chi(2) 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.
基金：
National Natural Science Foundation of China [81670853]; Department of Science and Technology of Sichuan Province [2019JDJQ0031]; Foundation for Technology & Science Bureau of Chengdu [2018-YF05-00348-SN]
第一作者机构：[1]School of Clinic Medicine, Southwest Medical University, Luzhou, Sichuan, China
通讯作者：
通讯机构：[1]School of Clinic Medicine, Southwest Medical University, Luzhou, Sichuan, China[4]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[*1]Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, 32 Road West 2, the First Ring, Chengdu, Sichuan 610072, China
推荐引用方式(GB/T 7714)：
Xu Jiaxin,Luo Huanchao,Yu Man,et al.Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population[J].OPHTHALMIC GENETICS.2019,40(3):237-241.doi:10.1080/13816810.2019.1627465.
APA：
Xu, Jiaxin,Luo, Huanchao,Yu, Man,Yang, Chen,Shu, Yi...&Wang, Jin.(2019).Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population.OPHTHALMIC GENETICS,40,(3)
MLA：
Xu, Jiaxin,et al."Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population".OPHTHALMIC GENETICS 40..3(2019):237-241
