着色性干皮病基因的常见变异与前列腺癌风险
Common variants of xeroderma pigmentosum genes and prostate cancer risk.
作者信息
Mirecka Aneta, Paszkowska-Szczur Katarzyna, Scott Rodney J, Górski Bohdan, van de Wetering Thierry, Wokołorczyk Dominika, Gromowski Tomasz, Serrano-Fernandez Pablo, Cybulski Cezary, Kashyap Aniruddh, Gupta Satish, Gołąb Adam, Słojewski Marcin, Sikorski Andrzej, Lubiński Jan, Dębniak Tadeusz
机构信息
Department of Genetics and Pathology, Pomeranian Medical University, Poland.
Department of Genetics and Pathology, Pomeranian Medical University, Poland.
出版信息
Gene. 2014 Aug 10;546(2):156-61. doi: 10.1016/j.gene.2014.06.026. Epub 2014 Jun 13.
The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between several NER gene polymorphisms and PC risk, but most of them evaluated only single SNPs among XP genes and the results remain inconsistent. Out of 94 SNPs located in seven XP genes (XPA-XPG) a total of 15 SNPs were assayed in 720 unselected patients with PC and compared to 1121 healthy adults. An increased risk of disease was associated with the XPD SNP, rs1799793 (Asp312Asn) AG genotype (OR=2.60; p<0.001) and with the AA genotype (OR=531; p<0.0001) compared to the control population. Haplotype analysis of XPD revealed one protective haplotype and four associated with an increased disease risk, which showed that the A allele (XPD rs1799793) appeared to drive the main effect on promoting prostate cancer risk. Polymorphism in XPD gene appears to be associated with the risk of prostate cancer.
前列腺癌（PC）的遗传基础很复杂，似乎涉及多个易感基因。许多研究评估了几种核苷酸切除修复（NER）基因多态性与PC风险之间的可能相关性，但其中大多数仅评估了着色性干皮病（XP）基因中的单个单核苷酸多态性（SNP），结果仍然不一致。在位于七个XP基因（XPA - XPG）中的94个SNP中，共对720例未经选择的PC患者中的15个SNP进行了检测，并与1121名健康成年人进行了比较。与对照组相比，疾病风险增加与XPD SNP rs1799793（Asp312Asn）的AG基因型（比值比[OR]=2.60；p<0.001）和AA基因型（OR=531；p<0.0001）相关。XPD的单倍型分析显示一种保护性单倍型和四种与疾病风险增加相关的单倍型，这表明A等位基因（XPD rs1799793）似乎在促进前列腺癌风险方面起主要作用。XPD基因的多态性似乎与前列腺癌风险相关。
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