To analyze the association of CYP24A1 gene polymorphism with vitamin D deficiency and its related cardiovascular disorders in the Pakistani population. The present prospective cohort study was carried out at KRL and Rawalpindi General Hospital from January 2017 to December 2018. A total of 110 subjects suffering from heart diseases like hypertension, myocardial infarction, or congestive cardiac failure (age range 12-90 years) were enrolled in this study with informed consent. Sampling was done by non-probability convenience sampling. Blood 24Hydroxyvitmin D levels were assessed in the participants by using an electrochemiluminescence system. Genetic polymorphism in the CYP24A1 gene was screened in selected patients (n=15) through PCR-RFLP, after genomic DNA extraction from the whole blood. Data were analyzed using SPSS version 24 for Mac. Fisher’s exact test and chi-square tests were applied for qualitative variables. The risk of polymorphism in CYP24A1(SNP rs6013897) genotypes TT, AT, and AA was determined by calculating the odds ratio and confidence interval. P-value <0.05 was considered statistically significant. We observed the highest level of vitamin D deficiency in patients of age group 18-45 years and insufficiency in age group 50-60years. A greater percentage of female patients (34.19%) were deficient in Vitamin D as compared to males (25.72%). Vitamin D deficiency was found to be associated with cardiovascular diseases like hypertension (P=0.000*), myocardial infarction (P=0.334), and heart failure (0.001*). CYP24A1 (SNP rs6013897) was significantly associated (P=0.000*) with vitamin D deficiency and heart diseases (P=0.004*). Moreover, significant polymorphism of genotype AT was observed in our subjects. {P=0.007*, Cramer’s V =.003 and 95% CI (0.44-17.27)}. There is an association of CYP24A1 gene polymorphism with vitamin D deficiency and heart diseases. Prevention of low vitamin D levels in individuals with this known genetic marker may help to avert the development of heart diseases in Pakistan.
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