The association of VDR (Fok I and Bsm I) and MTHFR (C677T) polymorphisms with ischemic stroke

Objectives: The vitamin D receptor (VDR) modulates the expression of different genes that are involved in various cell processes. Abnormality in expression and genetic polymorphism of VDR are related to ischemic stroke (IS). Also, the 5,10-methylenetetrahydrofolate reductase (MTHFR) may have a role in IS through influence on homocysteine metabolism. Therefore, we investigated the association between the genetic polymorphism of VDR (BsmI and Fok I) and MTHFR C677T and susceptibility of IS. Materials and methods: The genotyping of MTHFR C677T and VDR (Bsm I and Fok I) polymorphism was performed using PCR-RFLP in 150 IS patients and 150 healthy controls. Results: The homozygote genotype of Bsm I VDR polymorphism (BB (OR: 0.51, 95% CI: 0.28-0.93, P = 0.01), bb (OR: 3.44, 95% CI: 1.58-7.57, P: 0.005)), and B allele (OR: 0.41, 95% CI: 0.26-0.64, P: 0.00008) was associated with the risk of IS as compared to the controls. Also, a significant association of bb genotype (OR: 0.44, 95% CI: 0.18-1.05, P: 0.04) and B allele of Bsm I VDR (OR: 1.98, 95% CI: 1.16-3.38, P: 0.01) was observed with hypertension in IS patients, while no significant correlation was observed between Bsm I and other risk factors such as diabetes, gender, and age of the onset. Moreover, the genotype and allele distribution frequencies of both FOK I VDR and MTHFR C677T polymorphisms were not associated with IS and its risk factors. Conclusions: The association of genotype and allele Bsm I VDR polymorphism with IS has shown that Bsm I VDR polymorphism could be a potential biomarker for the risk of IS and hypertension.