Li Chunxiang, Jiang Zheng, Liu Xinghan
Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Mol Biol Rep. 2010 Jan;37(1):301-9. doi: 10.1007/s11033-009-9693-1. Epub 2009 Aug 8.
Studies on the polymorphisms of Xeroderma Pigmentosum Group D (XPD) have shown inconclusive trends in the risk of bladder cancer. The purpose of this study is to evaluate the role of XPD single nucleotide polymorphisms in bladder cancer susceptibility. We performed a meta-analysis on all available studies, which included 5,368 and 6,683 XPD Lys(751)Gln cases and controls and 3,220 and 4,391 Asp(312)Asn cases and controls, respectively. Overall, Significant risk effects of Lys(751)Gln genotype was found under recessive model contrast [Gln/Gln vs. (Gln/Lys + Lys/Lys)] [P = 0.04, OR = 1.12; 95% CI (1.01, 1.26)], and subtle but insignificantly increased risks between Lys(751)Gln and bladder cancer were observed under allele contrast (Gln vs. Lys) and homologous contrast (Gln/Gln vs. Lys/Lys) in all subjects. The (751)Gln allele had no significant effect on bladder cancer in all subgroups (Asian, Caucasian and USA). Significant risk effects of Asp(312)Asn polymorphism on bladder susceptibility were observed in all subjects under all genetic contrasts, however, stratified analyses showed that the (312)Asn allele showed different risk effects in USA and Caucasian. The Gln/Gln genotype acts as a risk factor in its association with bladder cancer, and the effect of Lys(751)Gln polymorphism on bladder susceptibility should be studied with larger, stratified population; the (312)Asn allele has an important role in the etiology of bladder cancer whereas the ethnic background should be carefully concerned in further studies.
对着色性干皮病D组（XPD）基因多态性的研究显示，其与膀胱癌风险之间的关系尚无定论。本研究旨在评估XPD单核苷酸多态性在膀胱癌易感性中的作用。我们对所有可得研究进行了荟萃分析，这些研究分别纳入了5368例和6683例携带XPD Lys(751)Gln基因的病例与对照，以及3220例和4391例携带Asp(312)Asn基因的病例与对照。总体而言，在隐性模型对比下[Gln/Gln vs. (Gln/Lys + Lys/Lys)]发现Lys(751)Gln基因型具有显著的风险效应[P = 0.04，OR = 1.12；95% CI (1.01, 1.26)]，并且在所有受试者的等位基因对比（Gln vs. Lys）和纯合子对比（Gln/Gln vs. Lys/Lys）中，观察到Lys(751)Gln与膀胱癌之间存在细微但不显著增加的风险。(751)Gln等位基因在所有亚组（亚洲人、白种人和美国人）中对膀胱癌均无显著影响。在所有遗传对比下，所有受试者中均观察到Asp(312)Asn多态性对膀胱易感性具有显著的风险效应，然而，分层分析显示(312)Asn等位基因在美国人和白种人中表现出不同的风险效应。Gln/Gln基因型在其与膀胱癌关联中起危险因素作用，Lys(751)Gln多态性对膀胱易感性的影响应以更大规模的分层人群进行研究；(312)Asn等位基因在膀胱癌病因中具有重要作用，而在进一步研究中应仔细关注种族背景。
