Genetic association and computational analysis of CYP2R1 gene polymorphisms rs2060793 and rs12794714 with vitamin D deficiency and acute myocardial infarction in the Bangladeshi population: A case control study

by Sadia Akter, Md. Nazid Bin Ibrahim, Zimam Mahmud, Sonia Tamanna, Md.

Shakhawat Hossain Shawon, Farzana Ansari, Md. Zakir Hossain Howlader Acute myocardial infarction (AMI) remains a leading cause of cardiovascular morbidity and mortality worldwide.

Emerging evidence highlights vitamin D as a critical determinant of cardiovascular health. The CYP2R1 gene encodes the key 25-hydroxylase enzyme responsible for converting vitamin D to its principal circulating metabolite, 25-hydroxyvitamin D.

However, the influence of CYP2R1 polymorphisms on AMI susceptibility, particularly within South Asian populations, has not been well characterized. This study investigates the association of two CYP2R1 variants, rs2060793 and rs12794714, with AMI risk and their relationship with serum vitamin D levels in a Bangladeshi cohort.

A total of 502 participants comprising 251 AMI patients and 251 age- and sex-matched controls were analyzed. Genomic DNA was extracted and genotyped using PCR-RFLP, while serum 25-hydroxyvitamin D 3 levels were quantified by HPLC.

AMI patients exhibited markedly lower vitamin D concentrations (23.92 ± 0.94 ng/mL) than controls (30.3 ± 0.86 ng/mL; p p = 0.0064). The dominant model (TC + CC vs.