CYP2R1 rs2060793 polymorphism is significantly associated with increased AMI risk and lower vitamin D levels in a Bangladeshi population, while rs12794714 showed no significant association with AMI.
AMI patients had significantly lower serum 25-hydroxyvitamin D3 concentrations compared to controls.
The CYP2R1 rs2060793 TC and CC genotypes were each associated with significantly increased AMI risk compared to the TT genotype.
The dominant model combining TC and CC genotypes of rs2060793 confirmed a significant association with AMI risk.
CYP2R1 rs12794714 showed no significant association with AMI risk in the Bangladeshi population.
The association between rs2060793 and AMI was significant in males but not in females in stratified analysis.
Both CYP2R1 variants (rs2060793 and rs12794714) were associated with increased AMI risk in individuals aged ≤60 years but not in those older than 60 years.
Bioinformatic and molecular docking analyses demonstrated potential regulatory effects of the two CYP2R1 variants on CYP2R1 gene function.
The study population consisted of Bangladeshi participants representing a South Asian cohort that had not been well characterized for CYP2R1 polymorphism effects on AMI.
This research suggests that a specific genetic variant in the CYP2R1 gene — a gene that controls how the body converts vitamin D into its active form — is linked to a higher risk of heart attacks (acute myocardial infarction, or AMI) in people from Bangladesh. The study compared 251 heart attack patients to 251 healthy matched controls and found that patients had notably lower vitamin D levels in their blood. Individuals carrying certain versions (TC or CC genotypes) of the rs2060793 variant in the CYP2R1 gene were approximately 2.5 times more likely to have had a heart attack compared to those with the TT version. A second variant studied, rs12794714, did not show the same overall association with heart attack risk. The research also found that these genetic associations were not uniform across all groups. The rs2060793 variant was significantly associated with heart attack risk in men but not women, and both variants showed stronger associations in people aged 60 or under compared to those older than 60. Computer-based analyses further suggested that these genetic variants may affect how the CYP2R1 gene functions, potentially altering the body's ability to produce adequate levels of active vitamin D. This research suggests that genetic differences in vitamin D metabolism may play a role in heart attack susceptibility, particularly in South Asian populations that have been understudied in this context. The findings highlight a potential interplay between genetics and vitamin D levels in heart disease risk, which could have implications for understanding why certain individuals or populations may be more vulnerable to heart attacks. Further research in larger and more diverse populations would be needed to confirm and expand on these findings.
Akter S, Ibrahim M, Mahmud Z, Tamanna S, Shawon M, Ansari F, et al.. (2026). 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.. PloS one. https://doi.org/10.1371/journal.pone.0350994