Polymorphism ofXRCC1,XRCC3, andXPDGenes and Risk of Chronic Myeloid Leukemia

Abstract

The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association betweenXRCC1Arg399Gln, Arg280His and Arg194Trp,XRCC3Thr241Met, andXPDLys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML andXRCC1orXRCC3variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of theXPDLys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes,OR=2.37; 95%CI=1.20–4.67;Pvalue = 0.016 and for combined heterozygous and variant homozygous genotypes,OR=1.72; 95%CI=1.10–2.69;Pvalue = 0.019). This was also observed when analyzing the variant 751Gln allele (OR=1.54; 95%CI=1.13–2.11;Pvalue = 0.008). Our results suggest that theXPDLys751Gln variant genotype increases the risk of CML.