Serum vitamin D deficiency and vitamin D receptor gene polymorphism are associated with increased risk of cardiovascular disease in a Chinese rural population.

Several studies have reported a conflicting association between vitamin D deficiency, vitamin D receptor (VDR) polymorphism, and the risk of cardiovascular disease (CVD). We hypothesized that serum 25(OH)D concentrations and single nucleotide polymorphisms (SNPs) of the VDR were associated with and increased risk of CVD. A total of 2378 adults residing in rural parts of China participated in this study. Ultimately, 1142 individuals, including 638 CVD patients and 504 control subjects were included in the study. Logistic regression and restricted cubic spines regression were used to determine the correlation between 25(OH)D and the risk of CVD. Allele frequency and genotype distribution were analyzed between CVD patients and control subjects, and haplotype analysis was used to evaluate the combined effect of VDR SNPs on CVD pathogenesis. In the adjusted model, the odds ratio (95% confidence interval (CI)) of the CVD in the sufficient vitamin D group was 0.76 (0.60–0.96)when compared with the vitamin D deficient group. At 25(OH)D doses of less than 20 ng/mL, there was a dose–response relationship between 25(OH)D and CVD risk. Moreover, the rs3847987 SNP was associated with fasting plasma glucose (FPG) and triglyceride (TG) in CVD patients. In all models, there was a significant association between rs2189480 and CVD, especially in females and those aged ≥55 years. In these groups, rs3847987 SNPs were significantly different, especially in females. Compared with the ACA haplotype, the AAA and CCA haplotypes were associated with increased risk of CVD. In conclusion, our results suggested that serum 25(OH)D levels and VDR SNPs are closely related with CVD pathogenesis.