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首页> 外文期刊>Ophthalmic genetics >Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population
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Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population

机译：多态性Rs1165696在中国人口中初级开角青光眼的气体7

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摘要

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.
机译：背景：已经表明遗传因素在原发性开放角青光眼（POAG）发病机制中发挥着重要作用。进行该研究以研究位于生长逮捕特异性7基因（GAS7）和POAG中的多态性RS11656696之间的关联。方法：在本病例对照协会研究中注册了799例无关的POG患者和799名无关控制受试者的群组。多态性RS11656696使用快照方法进行基因分型。使用CHI（2）测试评估基因型和等位基因频率。结果：GAS7基因RS11656696的等位基因频率分布表明，POAG病例和对照之间存在显着差异（P = .006448，或= 0.82,95％CI =（0.72-0.95）。次要“A”等位基因频率在Poag案件中，这种多态性为0.477，而对照组是0.526，表明Poag的保护作用。在纯合模型下检测到显着的关联（P = .006425，或= 0.68,95％CI = 0.51-0.90）。和隐性模型（P = .0003432，或= 0.66,95％CI = 0.52-0.84），表明携带RS11656696 AA基因型的受试者比携带的AC / CC基因型患有那些基因型的可能性。结论：这种情况控制：这种情况控制协会研究表明，Gas7中的多态性RS11656696与POAG有关，并且可能是针对POAG的保护因素。

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  • 来源
    《Ophthalmic genetics》 |2019年第3期|共5页
  • 作者

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

  • 作者单位

    Southwest Med Univ Sch Clin Med Luzhou Sichuan Peoples R China;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Canc Hosp &

    Inst Sichuan Canc Ctr Dept Clin Lab;

    Univ Elect Sci &

    Technol China Sichuan Acad Med Sci Dept Ophthalmol Chengdu Sichuan Peoples R;

    Univ Elect Sci &

    Technol China Sichuan Prov Peoples Hosp Sch Med Chengdu Sichuan Peoples R;

    Univ Elect Sci &

    Technol China Sichuan Prov Peoples Hosp Sch Med Chengdu Sichuan Peoples R;

    Univ Elect Sci &

    Technol China Sichuan Prov Peoples Hosp Sch Med Chengdu Sichuan Peoples R;

    Southwest Med Univ Sch Clin Med Luzhou Sichuan Peoples R China;

    Univ Elect Sci &

    Technol China Sichuan Prov Peoples Hosp Sch Med Chengdu Sichuan Peoples R;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 眼科学;
  • 关键词

    POAG; GAS7; rs11656696; association study;

    机译：PAG;GAS7;RS1165669666;协会研究;
  • 入库时间 2022-08-20 05:21:01

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