Association of C677T and A1298C Polymorphisms with First-Episode Myocardial Ischemia: A Case-Control Study.

BACKGROUND

Myocardial ischemia remains a major cause of morbidity and mortality worldwide. Although traditional risk factors are well-established, genetic predisposition-particularly involving polymorphisms-has garnered increasing attention. This study investigates the association between C677T and A1298C polymorphisms and first-episode myocardial ischemia in a Romanian population.

METHODS

This study included 69 adult patients with first-episode myocardial ischemia and 55 healthy controls, matched by age and sex. Participants were recruited from southeastern Romania between 2023 and 2025. Clinical data-such as blood pressure, body mass index, smoking, and alcohol consumption-were recorded. Genotyping for C677T and A1298C polymorphisms was performed using a real-time PCR-based assay (Bosphore 677-1298 Detection Kit v2), following the manufacturer's protocol.

RESULTS

A significantly higher frequency of homozygous mutant genotypes was observed in patients with myocardial ischemia. The TT genotype of C677T was present in 71% of patients, compared to only 7.3% of controls. Similarly, the CC genotype of A1298C was detected in 59.4% of patients, versus 7.3% in controls. These genotypic patterns suggest a strong genetic predisposition among affected individuals. The association between polymorphisms and myocardial ischemia was particularly evident in participants over 50 years of age, indicating a possible interaction between genetic vulnerability and age-related cardiovascular risk.

CONCLUSIONS

Our findings indicate a strong association between C677T and A1298C homozygous mutant genotypes and the risk of first-episode myocardial ischemia, particularly in older adults. These results underscore the potential role of genetic screening in early cardiovascular risk stratification.