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Epha2 基因中的单核苷酸多态性(rs7543472)与来自旁遮普南部木尔坦的受试者的年龄相关性白内障有关:一项病例对照研究。

Single nucleotide polymorphism (rs7543472) in EPHA2 gene is associated with age-related cataract in subjects enrolled from Multan in southern Punjab: A case-control study.

机构信息

Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.

Institute of Pure and Applied Biology, Zoology Division.

出版信息

J Pak Med Assoc. 2020 Apr;70(4):583-590. doi: 10.5455/JPMA.6232.

Abstract

OBJECTIVES

To examine whether Ephrin type A receptor 2 gene polymorphisms are associated with susceptibility to age-related cataract.

METHODS

The case-control study was conducted from January to May 2014 in Multan, Pakistan, and comprised patients of age-related cataract enrolled from Nishtar Hospital, Multan, and age-matched healthy controls without any type of cataract from the local population. A questionnaire was used to gather clinical and epidemiological data. Deoxyribonucleic acid was extracted from blood samples, and analysis of rs11260867, rs3568293 and rs7543472 single nucleotide polymorphisms was performed by using tetra amplification-refractory mutation system polymerase chain reaction protocol. Data was analysed using SPSS 17.

RESULTS

Of the 230 subjects, 129(%) were patients and 101(%) were controls. Among the three polymorphisms analysed, rs7543472 was associated with age-related cataract. Among the epidemiological and clinical factors, age, diabetes, blood pressure, smoking, radiation exposure, steroids usage and use of tranquilisers were associated with age-related cataract (p<0.05 each).

CONCLUSIONS

Polymorphism rs7543472 was found to be associated with age-related cataract.

摘要

目的

探讨 Ephrin 型 A 受体 2 基因多态性与年龄相关性白内障易感性的关系。

方法

本病例对照研究于 2014 年 1 月至 5 月在巴基斯坦木尔坦进行,研究对象为木尔坦尼沙特医院收治的年龄相关性白内障患者和当地无任何类型白内障的年龄匹配健康对照者。采用问卷收集临床和流行病学数据。从血样中提取脱氧核糖核酸,采用四扩增反应障碍突变系统聚合酶链反应方案分析 rs11260867、rs3568293 和 rs7543472 单核苷酸多态性。采用 SPSS 17 进行数据分析。

结果

在 230 名受试者中,129(%)为患者,101(%)为对照组。在分析的三种多态性中,rs7543472 与年龄相关性白内障有关。在流行病学和临床因素中,年龄、糖尿病、血压、吸烟、辐射暴露、类固醇使用和镇静剂使用与年龄相关性白内障有关(p<0.05)。

结论

发现 rs7543472 多态性与年龄相关性白内障有关。

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