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中国人群中rs11656696基因多态性与原发性开角型青光眼的关联

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

作者信息

Xu Jiaxin, Luo Huanchao, Yu Man, Yang Chen, Shu Yi, Gong Bo, Lin Yin, Wang Jin

机构信息

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

b 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.

出版信息

Ophthalmic Genet. 2019 Jun;40(3):237-241. doi: 10.1080/13816810.2019.1627465. Epub 2019 Jul 4.

Abstract

: 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.

摘要

研究表明,遗传因素在原发性开角型青光眼(POAG)的发病机制中起重要作用。本研究旨在探讨生长停滞特异性7基因()中rs11656696多态性与POAG之间的关联。在这项病例对照关联研究中,纳入了799名无亲缘关系的POAG患者和799名无亲缘关系的对照受试者。采用SNaPshot方法对rs11656696多态性进行基因分型。使用χ检验评估基因型和等位基因频率。rs11656696在基因中的等位基因频率分布显示,POAG病例组与对照组之间存在显著差异(=0.006448,OR=0.82,95%CI=(0.72-0.95)。该多态性的次要“A”等位基因频率在POAG病例组中为0.477,而在对照组中为0.526,提示对POAG有保护作用。在纯合子模型(=0.006425,OR=0.68,95%CI=0.51-0.90)和隐性模型(=0.0003432,OR=0.66,95%CI=0.52-0.84)下检测到显著关联,表明携带rs11656696 AA基因型的受试者患POAG的可能性低于携带AC/CC基因型的受试者。这项病例对照关联研究表明,基因中的rs11656696多态性与POAG相关,可能是POAG的一个保护因素。

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