Genetic polymorphisms of DNA repair enzymes in dilated cardiomyopathy

Lan Zhang, Dong-Lin Sun, Yan Jin, Xian Liu, Jia-Bin Sun, Wei Cao, Yi Zhang, Xiao-Yun Wang
2016 Int J Clin Exp Pathol   unpublished
The association between the polymorphisms in DNA repair enzymes: 8-oxoguanine glycosylase-1 (OGG1), AP endonuclease-1 (APE1), DNA polymerase β (POLβ), X-ray cross-complementing group 1 (XRCC1) in the base excision repair (BER) pathway and xeroderma pigmentosum complementation group D (XPD) genes in the nucleotide excision repair (NER) pathways and the risk of dilated cardiomyopathy (DCM) in the Chinese population is not known. Therefore, we investigate the possible association between
more » ... n between polymorphisms of these genes and DCM development. The study included 502 DCM patients and 520 controls. 8-OHdG levels were measured by ELISA methods. Genotyping was conducted using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significantly higher 8-OHdG concentrations were detected in the blood in DCM cases than the controls. POLβ Met/Met genotype frequency was significantly higher in DCM patients (P = 0.005, odds ratio (OR) = 1.977, 95% confidence intervals (CI) = 1.237-3.160), the Met allele (P = 0.002, OR = 1.370, 95% CI = 1.125-1.669) seemed to have a deleterious role in the development of DCM. In OGG1-Arg229Gln, OGG1-Ser326Cys, APE1-Asp-148Glu, XRCC1-Arg194Trp, XRCC1-Arg399Gln, and XPD-Lys751Gln, XPD-Asp312Asn polymorphisms, there were no significant differences in the frequency of the homozygous variant between the patients and the controls. The results suggest that the Met/Met genotype of the POLβ-Lys289Met polymorphism might be associated with increased risk of DCM.