DNA修复基因多态性与肝细胞癌风险增加的关系。
Implication of polymorphisms in DNA repair genes with an increased risk of hepatocellular carcinoma.
作者信息
Wu J S, Chen Y P, Wang L C, Yang Y J, Deng C W, Hou B X, He Z L, Chen J X
机构信息
Oncology Department, Hainan Province Nongken Nada Hospital, Danzhou, China.
Department of Digestive System, Hainan Province Nongken Nada Hospital, Danzhou, China.
出版信息
Genet Mol Res. 2014 May 16;13(2):3812-8. doi: 10.4238/2014.May.16.5.
We explored the association between 4 XRCC1 (Arg194Trp and Arg399Gln) and XPD (Asp312Asn and Lys751Gln) polymorphisms with the development and prognosis of hepatocellular carcinoma (HCC). A total of 218 cases with HCC and 277 healthy controls were included in the study. Genotyping of the XRCC1 (Arg194Trp and Arg399Gln) and XPD (Asp312Asn and Lys751Gln) polymorphisms was performed in a 384-well plate format on the Sequenom MassARRAY platform. We found that individuals with the XRCC1 399AA genotype had a higher risk of HCC compared with the GG genotype (odds ratio, OR = 1.85, 95% confidence interval, CI = 1.03-3.23). Similarly, individuals carrying the XPD 751GG genotype showed a greatly increased risk of HCC (OR = 2.97, 95%CI = 126- 7.38). Cox regression analysis showed that individuals carrying XPD 751Gln/Gln genotypes had a 0.30-fold increased risk of death from HCC. These results suggest that polymorphisms in XRCC1 and XPD may have functional significance in HCC.
我们探究了4种XRCC1（精氨酸194色氨酸和精氨酸399谷氨酰胺）和XPD（天冬氨酸312天冬酰胺和赖氨酸751谷氨酰胺）基因多态性与肝细胞癌（HCC）发生及预后之间的关联。该研究共纳入了218例HCC患者和277名健康对照者。采用Sequenom MassARRAY平台以384孔板形式对XRCC1（精氨酸194色氨酸和精氨酸399谷氨酰胺）和XPD（天冬氨酸312天冬酰胺和赖氨酸751谷氨酰胺）基因多态性进行基因分型。我们发现，与GG基因型相比，携带XRCC1 399AA基因型的个体患HCC的风险更高（优势比，OR = 1.85，95%置信区间，CI = 1.03 - 3.23）。同样，携带XPD 751GG基因型的个体患HCC的风险大幅增加（OR = 2.97，95%CI = 1.26 - 7.38）。Cox回归分析显示，携带XPD 751谷氨酰胺/谷氨酰胺基因型的个体死于HCC的风险增加了0.30倍。这些结果表明，XRCC1和XPD基因多态性可能在HCC中具有功能意义。
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