Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk.
Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk.
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DOI：
10.3892/or_00000854
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发表时间：
2010-07
期刊：
影响因子：
4.2
通讯作者：
Keohavong P
中科院分区：
文献类型：
--
作者：
Gao W;Romkes M;Zhong S;Nukui T;Persad RA;Smith PJ;Branch R;Keohavong P
先前的研究表明，某些遗传多态性，特别是着色性干皮病D组（XPD）基因密码子751和x射线修复交叉互补1组（XRCC1）基因密码子399多态性与肺癌风险增加有关，并且在一些研究中，肺癌肿瘤中p53肿瘤抑制基因突变的风险更大。为了评估这些基因多态性是否可能与膀胱癌风险增加或膀胱癌中p53突变状态相关，我们筛选了194名膀胱癌患者和313名健康对照者血液中分离的DNA中XPD密码子751和XRCC1密码子399的多态性，以及174名膀胱癌患者膀胱肿瘤DNA中p53基因外显子4至8的突变。与对照组相比，膀胱癌组中XPD 751 Gln等位基因的患病率明显更高。膀胱癌风险与xrcc1399多态性无相关性。20.1%（35/174）的患者发现P53突变。不同基因型个体间p53突变状态无差异。这些结果表明，携带XPD 751 Gln等位基因的个体患膀胱癌的风险可能会增加，尽管这可能不会导致p53基因突变的风险增加。
Previous studies have suggested that certain genetic polymorphisms, specifically the Xeroderma pigmentosum group D (XPD) gene codon 751 and the X-ray repair cross-complementing group 1 (XRCC1) gene codon 399 polymorphisms, were associated with an increased risk of lung cancer, and, in some studies, with a greater risk for mutations in the p53 tumor suppressor gene in lung tumors. To evaluate whether these gene polymorphisms may be associated with an increased risk for bladder cancer or in association with p53 mutation status in bladder tumors, we screened for polymorphisms at XPD codons 751 and XRCC1 codon 399 in DNA isolated from blood of 194 bladder cancer patients and 313 healthy controls and for mutations in exons 4 to 8 of the p53 gene in bladder tumor DNA from 174 bladder cancer patients. There was a significantly higher prevalence of the XPD 751 Gln allele among the bladder cancer group, compared with the control group. No association was found between bladder cancer risk and the XRCC1 399 polymorphism. p53 mutations were found in 20.1% (35/174) patients. There was no difference in p53 mutation status among individuals with different genotypes. These results suggest that individuals who have the XPD 751 Gln allele may be at an increased risk for bladder cancer, although this may not lead to an increased risk for mutations in the p53 gene.
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影响因子：
11.4
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通讯作者：
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