Vitamin D gene polymorphisms and risk of acute cardiovascular events

Background: Low vitamin D levels have been associated with various diseases, including cardiovascular disease, although data are not consistent. Serum vitamin D levels depend on different synthesis steps which are controlled by gene cascade. This study investigated whether low serum levels of vitamin D and single nucleotide polymorphisms (SNPs) in genes involved in the vitamin D cascade (VDR, CYP2R1, CYP27B1, CYP24 and DBP) could be risk factors for acute coronary syndrome (ACS).Materials and methods: 71 Patients with ACS and 443 healthy controls were genotyped for polymorphisms in genes of the vitamin D cascade. Clinical findings were correlated with serum levels of the vitamin D metabolites 1,25(OH)(2)D-3 and 25(OH)D-3.Results: 25(OH)D-3 and 1,25(OH)(2)D-3 insufficiency was more common in ACS patients than in controls (p < 0.05). After adjustments for variables and propensity score the SNPs rs4646536 and rs2296241 within CYP24 and CYP27B1 are significantly associated with ACS (p < 0.05). CYP27B1 rs4646536 genotype TT is more frequently found in ACS patients compared to healthy controls, whereas genotype TC is found at higher frequency in controls (79% vs 44% and 42% vs 5%, respectively, p < 0.01). CYP24 rs2296241 SNP genotype GG occurred less frequently in ACS vs controls (7% vs 18%), while genotype AG was found more frequently in ACS (79% vs 57%, p < 0.01).Conclusions: Lower vitamin D levels as well as polymorphisms within the CYP27B1 and CYP24 genes seem to promote ACS. These findings may offer potential for identification of patients at increased risk for cardiovascular incidents.