Genetic Polymorphism of , , , and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study.

The active form of vitamin D, calcitriol (1,25(OH)D), is produced from 25(OH)D via enzymes encoded by , , and . Polymorphisms in these genes may alter vitamin D metabolism and increase cardiovascular disease risk. This preliminary study investigated these polymorphisms in 27 patients with cardiovascular disease and 26 healthy volunteers using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP), while measuring 25(OH)D and 1,25(OH)D concentrations by UPLC-MS/MS and ELISA, respectively. Among patients, those with the GT genotype of () had higher 25(OH)D levels compared to other genotypes. Additionally, this polymorphism was associated with lower 1,25(OH)D in TT homozygotes, suggesting reduced activity. Furthermore, the TT genotype of () was three times more prevalent in cardiac patients than in healthy controls, possibly indicating increased susceptibility to the disease. Although these findings suggest a genetic influence on vitamin D metabolism in cardiovascular disease, larger and more comprehensive studies are needed to confirm these associations.