DNA repair genes polymorphisms in multiple myeloma: no associationwith XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T)and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkishpatients

Abstract

Objective: This study aims to investigate the associationbetween the polymorphisms in DNA repair genes (XPD, XRCC1, and XRCC4)and clinical parameters in patients with multiple myeloma (MM),their effects on prognosis and their roles in susceptibility to MM.Patients and methods: Sixty patients, diagnosed with MM and70 individuals as the healthy control group were included in the study. Genepolymorphisms were detected with the polymerase chain reaction and/or polymerasechain reaction–restriction fragment length polymorphism method. Whenthe genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln)genes were examined in the patient and control groups, no significant differencewas detected, while a significant association was found in XRCC4 (VNTRin intron 3 and G-1394T) polymorphisms. A significant association wasfound in the MM patients group for AA genotype and event-free survival (EFS)in terms of XPD (751) gene polymorphism (P = 0·047).When VNTR intron 3 polymorphism was compared for genotype frequency, DD genotypewas found to be significantly low (P = 0·012)in the patient group, whereas GG and TT genotypes were found to be significantlylower in the patient group for the genotype frequency XRCC4 (G-1394T)polymorphism when compared to the control group (P = 0·015, P = 0·010,respectively).Results: These data provide support for the hypothesis thata common variation in the genes encoding XRCC4 DNA repair proteins may contributeto susceptibility to myeloma. These findings require further validation inindependent populations.