Association of MTHFR and DNMT-1 Gene Polymorphisms with Acute Coronary Syndrome in Patients Admitted to the Emergency Department

TL;DR

This study finds that a specific MTHFR gene variant increases the risk of acute coronary syndrome, while another variant offers protection.

Contribution

The study identifies the MTHFR C677T polymorphism as a significant genetic risk factor for acute coronary syndrome.

Findings

The MTHFR CC genotype is strongly associated with increased ACS risk (OR: 7.34).

The T allele of MTHFR is more frequent in controls and shows a protective effect.

DNMT-1 +32204 A/G polymorphism is not significantly linked to ACS risk.

Abstract

Background/Objectives: Acute coronary syndrome (ACS) is a critical cardiovascular condition influenced by genetic and environmental factors. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and deoxyribonucleic acid methyltransferase-1 (DNMT-1) genes are linked to cardiovascular diseases, yet their specific roles in ACS pathogenesis remain unclear. This study examines the association of MTHFR C677T and DNMT-1 +32204 A/G polymorphisms with ACS and their potential contribution to genetic risk profiling. Methods: A case–control study was conducted with 212 participants, including 106 ACS patients and 106 controls. Peripheral blood samples were collected and analyzed to determine genotypic and allelic frequencies using the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) technique. Statistical analyses were performed to assess associations between gene polymorphisms and ACS risk. Results: The MTHFR C677T polymorphism showed a strong association with ACS. The CC genotype significantly increased risk (OR: 7.34; 95% CI: 2.28–23.6; p < 0.001), while the C allele was also associated with higher susceptibility (OR: 2.21; 95% CI: 1.46–3.35; p < 0.001). Conversely, the T allele exhibited a protective effect, being more frequent in controls (62.9% vs. 37.1% in ACS; p = 0.000). Elevated troponin I levels in ACS patients with the TT genotype (p = 0.025) suggested a link between MTHFR variants and disease severity. However, DNMT-1 +32204 A/G polymorphisms showed no significant association with ACS risk. Conclusions: The MTHFR C677T polymorphism influences ACS susceptibility, with the CC genotype as a risk factor and the T allele offering potential protection.

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