Relationship between the genetic polymorphisms in nucleotide excision repair genes of ERCC1, XPD, XPC and the arsenism caused by coal-burning / 中国地方病学杂志

ABSTRACT

Objective To investigate the relationship between genetic polymorphisms in excision repair cross-complementing 1 (ERCC 1 ),xeroderma pigmentosum group D (XPD),xeroderma pigmentosum group C (XPC) and the risk of arsenism caused by coal-burning.Methods Two hundred and twenty-nine patients with arsenism in the endemic area of Jiaole village Xingren county Guizhou province were selected into experimental group.One hundred and ninety-eight inhabitants who had similar living habits but did no burning coal with high arsenic in Dagnoduo village were selected into control group.Two milliliters vein blood samples were taken and analyzed with polymerase chain reaction-restriction frgment length polymorphism technique (PCR-RFLP) to measure the gene polymorphisms of ERCC1 C8092A,XPD Lys751Gln,XPD Asp312Asn,XPD Arg156Arg,and XPC P(AT +/-).Relationship between genotype and the risk of arsenism was also analyzed.Results The frequency of ERCC1 8092CA/AA geno-type in case group [ CA29.78％ (67/225),AA10.67％ (24/225) ] was significantly higher than that of control group[CA23.08％(45/195),AA5.13％(10/195),x2 =8.116,P ＜ 0.05].The frequency difference of other gene polymorphisms between case and control group was not statistically significant,respectively (x2 =5.649,4.394,0.865,1.490,all P ＞ 0.05).There were 1.780(95％CI1.174 - 2.698),1.681(95％CI1.081 - 2.615),and 1.790(95％CI1.014 - 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 individuals canying 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).Conclusion 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.