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Abstract：
Single nucleotide polymorphisms (SNPs) in DNA repair genes may predispose to urothelial carcinoma of the bladder (UCB). This study focused on three specific SNPs in a population with high exposure to environmental carcinogens including tobacco and alcohol. A case-control study design was used to assess for presence of XPC PAT +/-, XRCC3 Thr241Met, and ERCC2 Lys751Gln DNA repair gene SNPs in peripheral blood from patients with UCB and healthy individuals. One hundred patients and equal number of healthy subjects were enrolled. The XPC PAT +/+ genotype was associated with a 2-fold increased risk of UCB (OR = 2.16; 95%CI: 1.14-4; p = 0.01). The -/+ and +/+ XPC PAT genotypes were more frequently present in patients with multiple versus single tumors (p = 0.01). No association was detected between ERCC2 Lys751Gln genotypes/alleles, and risk for developing UCB. Presence of the XRCC3 TT genotype (OR = 0.14; 95%CI:0.07-0.25; p < 0.01) and of the T allele overall (OR = 0.26; 95%CI:0.16-0.41; p < 0.01) conferred a protective effect against developing UCB. The XPC PAT -/+ and XRCC3 Thr241Met SNPs are associated with predisposition to UCB. The XPC PAT -/+ SNP is also an indicator of bladder tumor multiplicity, which might require a more individualized surveillance and treatment.
摘要：
DNA修复基因中的单核苷酸多态性（SNP）可能易患膀胱尿路上皮癌（UCB）。这项研究集中在高暴露于环境致癌物（包括烟草和酒精）的人群中的三个特定SNP。病例对照研究设计用于评估XPCPAT+/-的存在，XRCC3Thr241Met,UCB患者和健康个体外周血中的ERCC2Lys751GlnDNA修复基因SNP。招募了100名患者和同等数量的健康受试者。XPCPAT+/+基因型与UCB风险增加2倍相关(OR=2.16;95CI:1.14-4;p=0.01)。-/+和+/+XPCPAT基因型在多发性与单发肿瘤患者中更常见(p=0.01)。在ERCC2Lys751Gln基因型/等位基因之间未检测到关联，以及开发UCB的风险。XRCC3TT基因型(OR=0.14;95CI:0.07-0.25;p<0.01)和T等位基因整体(OR=0.26;95CI:0.16-0.41;p<0.01)的存在赋予了针对发展中的UCB的保护作用。XPCPAT-/+和XRCC3Thr241MetSNP与对UCB的易感性相关。XPCPAT-/+SNP也是膀胱肿瘤多重性的指标，这可能需要更个性化的监测和治疗。
