XRCC1基因（194位点）和XPD基因（751位点）单核苷酸多态性与年龄相关性白内障的关联
Association of Single Nucleotide Polymorphisms in XRCC1 (194) and XPD (751) with Age-related cataract.
作者信息
Khosa Tafheem, Aslam Sana, Mustafa Saima, Akbar Atif, Shaikh Rehan Sadiq, Iqbal Furhan
机构信息
Zoology Division, Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, 60800, Pakistan.
Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, 60800, Pakistan.
出版信息
Int Ophthalmol. 2018 Jun;38(3):1135-1146. doi: 10.1007/s10792-017-0574-7. Epub 2017 May 30.
PURPOSE
Age-related cataract (ARC) is a multifactorial disease and different risk factors, including genetic and environmental, are responsible for the development of its various types. The aim of this study was to find out a correlation, if any, between ARC and the single nucleotide polymorphisms (SNPs) in DNA repair genes XRCC1 (X-ray repair cross-complementary-1) [Arg194Trp (rs1799782)] and XPD (xerodermapigmentosa complementation group D) [Lys751Gln (rs13,181].
METHOD
The genotype at these two SNPs was analyzed in 260 subjects (125 control and 135 patients) from Southern Punjab population (Pakistan) by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. Genotype at both analyzed codons was correlated either individually or in various combinations with the studied epidemiological factors known to be associated with ARC.
RESULTS
Our results indicated that both SNPs Arg194Trp in XRCC1 (P = 0.967) and Lys751Gln in XPD (P = 0.995) were not associated with ARC whether they were analyzed individually or in combined form (P > 0.05). Analysis of epidemiological factors revealed that age (P < 0.001), cast of subjects (P = 0.001), diabetes (P < 0.001), hypertension (P = 0.001), smoking habit (P = 0.01), drug abuse (P < 0.05), steroid use (P = 0.001) and body weight (P < 0.001) can influence the incidence of ARC in enrolled subjects. After applying Binary logistic regression it was found that the weight (P < 0.01), family history (P = 0.05), drug abuse (P = 0.05), smoking (P < 0.05) and steroid use (P < 0.05) has a significant association with the phenotype of the subjects. All epidemiological factors were also studied in association with various genotypic combinations of both SNPS, diabetes was the only factor that had a significant association (P < 0.001) association with ARC. Hypertension (P = 0.01), body weight (P < 0.05) and cast (P < 0.001) were found associated with ARC when epidemiological factors were individually correlated with ARC. Result of the two proportion test indicated that gender had no influence on the incidence of disease.
CONCLUSION
It is concluded that studied SNPs in XRCC1 and XPD have no association with the incidence of age related cataract in the analyzed group of subjects.
目的
年龄相关性白内障（ARC）是一种多因素疾病，包括遗传和环境因素在内的不同风险因素导致了其各种类型的发生。本研究的目的是找出ARC与DNA修复基因XRCC1（X射线修复交叉互补基因1）[精氨酸194色氨酸（rs1799782）]和XPD（着色性干皮病互补组D）[赖氨酸751谷氨酰胺（rs13181）]中的单核苷酸多态性（SNP）之间是否存在相关性。
方法
采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）方法，对来自巴基斯坦旁遮普省南部人群的260名受试者（125名对照者和135名患者）的这两个SNP的基因型进行分析。将两个分析密码子的基因型单独或与已知与ARC相关的研究流行病学因素进行各种组合关联分析。
结果
我们的结果表明，XRCC1中的精氨酸194色氨酸（P = 0.967）和XPD中的赖氨酸751谷氨酰胺（P = 0.995）这两个SNP，无论单独分析还是联合分析，均与ARC无关（P>0.05）。流行病学因素分析显示，年龄（P<0.001）、受试者种姓（P = 0.001）、糖尿病（P<0.001）、高血压（P = 0.001）、吸烟习惯（P = 0.01）、药物滥用（P<0.05）、类固醇使用（P = 0.001）和体重（P<0.001）会影响所纳入受试者的ARC发病率。应用二元逻辑回归分析后发现，体重（P<0.01）、家族史（P = 0.05）、药物滥用（P = 0.05）、吸烟（P<0.05）和类固醇使用（P<0.05）与受试者的表型有显著关联。还对所有流行病学因素与两个SNP的各种基因型组合进行了关联研究，糖尿病是唯一与ARC有显著关联（P<0.001）的因素。当流行病学因素与ARC单独关联时，发现高血压（P = 0.01）、体重（P<0.05）和种姓（P<0.001）与ARC有关。两样本率检验结果表明，性别对疾病发病率无影响。
结论
得出结论，在分析的受试者组中，XRCC1和XPD中研究的SNP与年龄相关性白内障的发病率无关。
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