Genetic polymorphisms of DNA repair enzymes in dilated cardiomyopathy
نویسندگان
چکیده
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 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-Asp148Glu, 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.
منابع مشابه
Influences of Genetic Abnormality on the Risk of Acute Lymphoblastic Leukemia
Recent studies have provided evidence that common genetic variations could account for a proportion of leukemia in adult or children. To evaluate the contribution of candidate gene association studies to the understanding of genetic susceptibility to acute lymphoblastic leukemia we conducted a systematic review from published studies. The polymorphisms of genes encoding carcinogen-metabolizi...
متن کاملInvestigation of Polymorphisms in Non-Coding Region of Human Mitochondrial DNA in 31 Iranian Hypertrophic Cardiomyopathy (HCM) Patients
The D-loop region is a hot spot for mitochondrial DNA (mtDNA) alterations, containing two hypervariable segments, HVS-I and HVS-II. In order to identify polymorphic sites and potential genetic background accounting for Hypertrophic CardioMyopathy (HCM) disease, the complete non-coding region of mtDNA from 31 unrelated HCM patients and 45 normal controls were sequenced. The sequences were aligne...
متن کاملAssociation of -77T>C and Arg194trp polymorphisms of XRCC1 with risk of coronary artery diseases in Iranian population
Objective(s): Coronary artery disease (CAD) is the leading cause of death in both male and female worldwide. The main cause of CAD is the atherosclerosis of coronary arteries, which is, mostly caused by genetic alteration. 50% of such cases occur in mitotic cells where single-strand breaks occur spontaneously or due to ionizing radiation. X-ray repair cross-complementing protein 1 (XRCC1) as a ...
متن کاملDeoxyribonucleic acid damage/repair proteins are elevated in the failing human myocardium due to idiopathic dilated cardiomyopathy.
OBJECTIVES The study investigated the expression and relationship of deoxyribonucleic acid (DNA) repair enzymes with hemodynamic and nitric oxide (NO)-mediated stress in the failing myocardium. BACKGROUND The role of apoptosis in human heart failure is controversial. Experimental studies suggested that NO-mediated stress modulates apoptosis of the cardiac myocytes. Of note, DNA repair enzymes...
متن کامل