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C609T和C-262T基因多态性与年龄相关性白内障风险之间的关系。

The relationship between C609T and C-262Tgenetic polymorphisms and the risk of age-related cataracts.

作者信息

Zarei Narjes, Saadat Iraj, Farvardin-Jahromi Majid

机构信息

Department of Biology, College of Sciences, Shiraz University, Shiraz, Iran.

Department of Ophthalmology, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Mol Biol Res Commun. 2015 Sep;4(3):143-149.

PMID:27844006
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5019206/
Abstract

Cataract is multi-factorial eye disease identified by the disturbance of the transparent ocular lens. There is significant evidence suggesting oxidative damage as a major cause of initiation and progression of numerous diseases including cataracts. NAD(P)H:quinone oxidoreductase 1 (NQO1; OMIM: 125860) and catalase (CAT, OMIM: 115500) are antioxidant enzymes that prevent cells from oxidative stress. The aim of the present study was to investigate the association between (Pro189Ser, rs1800566) and promoter (rs1001179) genetic polymorphisms and the susceptibility to cataracts. A case-control study including 190 cataracts cases and 190 healthy subjects was carried out. Genotype distributions of and polymorphisms were examined using polymerase chain reactions and a restriction fragment length polymorphism (PCR-RFLP) approach to investigate the possible role of these polymorphisms as risk factors in the development of cataracts. Variant CT heterozygous and TT genotypes of the polymorphism were found to be associated with an increased risk of cataracts (CT CC, OR=1.61, 95%CI: 1.02-2.52, P=0.038), (CT/TT CC, OR=1.56, 95%CI: 1.02-2.4, P=0.040). In addition, compared to indoor work places and the CC genotype of outdoor work places and CT/TT genotypes of were found to increase the risk of age-related cataracts (OR=2.75, 95%CI: 1.20-6.33, P=0.017). The analysis did not reveal, however, any statistically significant (P>0.05) difference between polymorphism and the risk of cataracts.

摘要

白内障是一种多因素眼病,其特征为透明眼晶状体受到干扰。有大量证据表明氧化损伤是包括白内障在内的多种疾病发生和发展的主要原因。NAD(P)H:醌氧化还原酶1(NQO1;OMIM:125860)和过氧化氢酶(CAT,OMIM:115500)是抗氧化酶,可防止细胞受到氧化应激。本研究的目的是调查NQO1(Pro189Ser,rs1800566)和CAT启动子(rs1001179)基因多态性与白内障易感性之间的关联。开展了一项病例对照研究,包括190例白内障患者和190名健康受试者。采用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法检测NQO1和CAT多态性的基因型分布,以研究这些多态性作为白内障发生风险因素的可能作用。发现NQO1多态性的变异CT杂合子和TT基因型与白内障风险增加相关(CT对CC,OR = 1.61,95%CI:1.02 - 2.52,P = 0.038),(CT/TT对CC,OR = 1.56,95%CI:1.02 - 2.4,P = 0.040)。此外,与室内工作场所相比,室外工作场所的CAT CC基因型和NQO1 CT/TT基因型会增加年龄相关性白内障的风险(OR = 2.75,95%CI:1.20 - 6.33,P = 0.017)。然而,分析未发现CAT多态性与白内障风险之间存在任何统计学显著差异(P>0.05)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af92/5019206/e6bb9eaf8f12/mbrc-4-143-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af92/5019206/e6bb9eaf8f12/mbrc-4-143-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/af92/5019206/e6bb9eaf8f12/mbrc-4-143-g001.jpg

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