Relationship between the genetic polymorphisms in nucleotide excision repair genes of ERCC1, XPD, XPC and the arsenism caused by coal-burning

Two hundred and twenty-nine patients with arsenism in the endemic area of Jiaole village Xingren county Guizhou province were recruited for this study. One hundred and ninety-eight inhabitants who had similar living habits but did no burning coal with high arsenic in Daguoduo village were also as the control group. Two millilitres vein blood samples were taken and analysed with polymerase chain reaction restriction fragment length polymorphism technique (PCR-RFLP) to measure the gene polymorphisms of ERCC1 C8092A, XPD Lys751Gln, XPD Asp312Asn, XPD Argl56Arg and XPC P (AT +/-). Relationship between genotype and the risk of arsenism was also analysed. The frequency of ERCC1 8092CA/AA genotype in case group [CA: 29.78% (67/225), AA: 10.67% (24/225)] was significantly higher than that of control group [CA: 23.08% (45/195), AA: 5.13% (10/195), ø2)8.116, P<0.05]. The frequency difference of other gene polymorphisms between case and control group was not statistically significant, respectively (ø2)5.649, 4.394, 0.865, 1.490, all P>0.05). There was 1.780 (95% CI: 1.174-2.698), 1.681 (95% CI: 1.081-2.615) and 1.790 (95%CI:1.014-3.158)-fold increase in risk of arsenism for individuals carrying ERCC1 8092CA + AA, XPD Lys751Gln + Gln751Gln, and XPD Asp312Asn + Asn312Asn genotypes compared respectively with individual carding ERCC1 8092CC, XPD Lys751Lys, and XPD Asp312Asp (all P<0.05). The sufferers only with XPD Arg156Arg or XPC P (AT+/-) didn't have higher risk of arsenism (all P>0.05). The results of this study suggest that the gene polymorphisms of ERCC1 C8092A, XPD Lys751Gln and Asp312Asn are related to the arsenism caused by coal-burning.

Authors: Wei, Shaofeng; Zhang, Aihua; Liang, Bing; Huang, Xiaoxin Full Source: Zhongguo Difangbingxue Zazhi 2011, 30(6), 633-637 (Chinese) ;