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Bladder cancer SNP panel predicts susceptibility and survival

机译:膀胱癌SNP专家组预测易感性和生存率

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Bladder cancer is the fourth most common malignancy in men and the eighth most common in women in western countries. Single nucleotide polymorphisms (SNPs) in genes that regulate telomere maintenance, mitosis, inflammation, and apoptosis have not been assessed extensively for this disease. Using a population-based study with 832 bladder cancer cases and 1,191 controls, we assessed genetic variation in relation to cancer susceptibility or survival. Findings included an increased risk associated with variants in the methyl-metabolism gene, MTHFD2 (OR 1.7 95% CI 1.3–2.3), the telomerase TEP1 (OR 1.8 95% CI 1.2–2.6) and decreased risk associated with the inflammatory response gene variant IL8RB (OR 0.6 95% CI 0.5–0.9) compared to wild-type. Shorter survival was associated with apoptotic gene variants, including CASP9 (HR 1.8 95% CI 1.1–3.0). Variants in the detoxification gene EPHX1 experienced longer survival (HR 0.4 (95% CI 0.2–0.8). These genes can now be assessed in multiple study populations to identify and validate SNPs appropriate for clinical use.
机译:在西方国家,膀胱癌是男性中第四常见的恶性肿瘤,在女性中第八常见的恶性肿瘤。尚未广泛评估调节端粒维持,有丝分裂,炎症和凋亡的基因中的单核苷酸多态性(SNPs)。我们使用一项针对832例膀胱癌病例和1,191例对照的基于人群的研究,评估了与癌症易感性或存活率相关的遗传变异。研究结果包括与甲基代谢基因MTHFD2(OR 1.7 95%CI 1.3–2.3),端粒酶TEP1(OR 1.8 95%CI 1.2–2.6)变异相关的风险增加以及与炎症反应基因变异相关的风险降低与野生型相比,IL8RB(OR 0.6 95%CI 0.5–0.9)。较短的生存期与凋亡基因变异有关,包括CASP9(HR 1.8 95%CI 1.1–3.0)。排毒基因EPHX1的变体存活时间更长(HR 0.4(95%CI 0.2–0.8)。现在可以在多个研究人群中评估这些基因,以鉴定和验证适合临床使用的SNP。

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