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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population
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XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population

机译：XRCC1 Arg194Trp多态性不是克什米尔人口皮肤癌发展的危险因素

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Background Recently, three coding polymorphisms in X-ray cross complementing gene 1 (XRCC1) have been identified; with probable effect on DNA repair capacity and thus modulation of cancer susceptibility. Moreover, association of these polymorphisms with the cancer risk are reported to be population dependent. Therefore, in this case control study we aimed to investigate the polymorphism at codon 194 (Arg to Trp) in XRCC1 gene and the possible association of its polymorphic genotypes with skin cancer in the ethnically different population of Kashmir. Aim To study if there is any possible association of Arg194Trp XRCC1 polymorphism with risk of developing skin cancer in ethnically different Kashmir population. Subjects and methods For this study 68 skin cancer patients and 60 healthy controls, matched for age and gender were recruited. PCR-RFLP followed by statistical analysis was employed to check for the C194T polymorphism and its possible association with the skin cancer risk in the population. Result An insignificant association among skin cancer patients with respect to the wild (Arg/Arg) versus variant (Trp/Trp) genotypes (OR=0.34, 95% CI=0.10–1.05, p =0.06) was observed. However, individually homozygous and heterozygous variant alleles were observed to be associated with risk of developing skin cancer. As far as, individual allelic ratio among cases and controls is concerned Trp allele of codon194 showed a remarkably high frequency in cases (67.7% vs. 32.3%) in comparison with controls (OR=1.94, 95% CI=1.22–3.0, p =0.004). Discussion These findings suggest that the combined homozygous and heterozygous variants of each codon and the 194Trp allele are associated with the disease, however when genotypes were compared individually, the association turned out to be insignificant.
机译：背景技术最近，已经确定了X射线交叉互补基因1（XRCC1）中的三个编码多态性。可能对DNA修复能力产生影响，从而调节癌症易感性。此外，据报道这些多态性与癌症风险的关联是人口依赖性的。因此，在本案例对照研究中，我们旨在研究XRCC1基因第194位密码子（从Arg到Trp）的多态性，以及其多态基因型与皮肤癌在克什米尔不同种族人群中的可能关联。目的研究在不同种族的克什米尔人口中，是否存在Arg194Trp XRCC1多态性与罹患皮肤癌的风险之间的可能联系。受试者和方法本研究招募了68名年龄和性别相匹配的皮肤癌患者和60名健康对照。使用PCR-RFLP，然后进行统计分析，以检查C194T多态性及其与人群皮肤癌风险的可能关系。结果在皮肤癌患者中，野生型（Arg / Arg）与变异型（Trp / Trp）基因型（OR = 0.34，95％CI = 0.10–1.05，p = 0.06）之间的关联很小。然而，观察到单独的纯合和杂合变异等位基因与发生皮肤癌的风险有关。就病例和对照之间的个体等位基因比例而言，密码子194的Trp等位基因在病例中的出现频率显着较高（67.7％vs. 32.3％），与对照相比（OR = 1.94，95％CI = 1.22–3.0，p = 0.004）。讨论这些发现表明，每个密码子和194Trp等位基因的纯合和杂合变异体均与该疾病相关，但是当单独比较基因型时，该关联变得无关紧要。

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