Genotype and allele frequencies of two Vitamin-D receptor gene polymorphisms (ApaI and BsmI) in patients undergoing elective percutaneous coronary intervention in Iranian population

Document Type : Original Article


1 Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran

2 Department of Clinical Pharmacy, School of Pharmacy, Shiraz University of Medical Science, Shiraz, Iran.

3 Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

4 Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.


Background: CAD is a major cause of death in worldwide. Both vitamin D (vit D) and Vitamin-D receptor (VDR) gene polymorphisms have been reported to be associated with Coronary artery disease (CAD). Because of high prevalence of vit D deficiency and mortality caused by cardiovascular diseases in our country, Iran, in this study we aimed to determine the frequency of two known VDR gene polymorphisms (BsmI and ApaI) in patients undergoing Percutaneous Coronary Intervention (PCI) in Iranian populations.
Methods: Blood samples were collected from 150 patients performing elective PCI (102 males and 48 females). VDR genotypes were determined by RFLP method. Serum vit D levels were measured using HPLC method and patients were divided into three groups as follows: subjects with a total vit D concentration 30 ng/ml> were described as normal, 20-30 ng/ml as insufficient and < 20 ng/ml as deficient.
Results: Among 150 samples analyzed for ApaI and BsmI polymorphisms the following genotypic frequency was observed: AA 44.67%, AC 44.67%, and CC 10.66% for ApaI and GG 47.33%, GA 37.33%, AA 15.34% for BsmI
Conclusions: Levels of active vitamin D could be influenced by both environmental and genetic factors. Our results also revealed that VDR gene polymorphisms (ApaI and BsmI) may vary across different ethnic groups in CAD patients.