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Archives of Biological Sciences 2024 Volume 76, Issue 4, Pages: 455-464
https://doi.org/10.2298/ABS240801035P
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Methylenetetrahydrofolate reductase gene polymorphisms, lipid profiles, and basic renal functional markers as risk for myocardial infarction: A case-control study and haplotype analysis

Perović Svetlana ORCID iD icon (Department of Biology, Faculty of Natural Sciences and Mathematics, University of Montenegro, Podgorica, Montenegro), perovicsvetlana33@gmail.com; svetlanaperovic@ucg.a
Vujović Slavica ORCID iD icon (Department of Biology, Faculty of Natural Sciences and Mathematics, University of Montenegro, Podgorica, Montenegro)
Kapur-Pojskić Lejla ORCID iD icon (Institute of Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo, Bosnia and Herzegovina)
Garai Nemanja ORCID iD icon (Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia)
Šćepanović Anđelka ORCID iD icon (Department of Biology, Faculty of Natural Sciences and Mathematics, University of Montenegro, Podgorica, Montenegro)

Myocardial infarction (MI) is a serious cardiovascular disease and the primary cause of mortality, with a complex etiopathology. Identifying the genetic basis of myocardial infarction (MI) is essential for developing personalized medical treatments. This study examined the possible association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and MI. In the study, 120 patients with MI and 120 age-and-sex-matched controls were genotyped for C677T and A1298C MTHFR polymorphisms by the allele-specific or amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). In the case of the C677T polymorphism, the T/T and C/T genotypes were associated with a significantly increased risk of MI under the dominant genetic model (odds ratio (OR)=2.060; P=0.006). Although there was no significant association between the A1298C variant and MI, this polymorphism was linked to a higher level of creatinine in MI patients (P<0.002). A similar association was observed for the C677T polymorphism (P=0.003). An A-T haplotype represented an increased risk for MI (OR=1.630; P=0.014), whereas the A-C haplotype had a protective role (R=0.517; P=0.002). These findings indicate that C677T MTHFR polymorphism is strongly associated with and increased risk of MI, making it a potential genetic risk factor and a possible predictor of MI.

Keywords: myocardial infarction, methylenetetrahydrofolate reductase gene polymorphisms, myocardial infarction risk factors, haplotype analysis, renal functional markers


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