Investigation of the association between polymorphisms in DNA repair enzymes and STEMI

Abstract Background: STEMI (ST-elevation myocardial infarction) is one of the most severe forms of coronary artery disease, known to significantly contribute to DNA damage. There are very few publications in this field in the literature. In our study, we examined the association between four polymorphisms in repair enzymes (LIG4 Thr9Ile, XRCC6 promoter C-57G, XPA -4A/G, OGG1 Ser326Cys) involved in three distinct DNA repair mechanisms (NHEJ (non-homologous end joining), NER (nucleotide excision repair), and BER (base excision repair), and their impact on the risk of STEMI. Methods & Results: This study involved 185 patients diagnosed with STEMI and included 100 healthy controls. The genotyping of SNPs was conducted through the PCR-RFLP (Polymerase chain reaction-restriction fragment length polymorphism) method for the following variants: XRCC6 (rs2267437), XPA (rs1800975), LIG4 ( rs1805388), and OGG1 (rs1052133). No significant differences were observed in the genotype distributions of the XRCC6 and OGG1 variations between the control and patient groups. On the other hand, our findings indicate that individuals carrying the mutant G allele for XPA polymorphism and the mutant Tallele for LIG4 polymorphism are susceptible to STEMI. Conclusions: Our findings demonstrate the significance of NHEJ and NER DNA repair processes in the pathogenesis of STEMI, as evidenced by the observed relationship between LIG4 and XPA polymorphisms.