Background25-Hydroxyvitamin D (Vit.D) levels associated with cardiovascular disease (CVD) may vary according to genetic variants in the vitamin D receptor (VDR) gene. However, the existing results are not conclusive in the Egyptian population, where diabetes mellitus is a common CVD risk factor. The purpose of the study was to evaluate the role of VDR polymorphism in Egyptian patients with CVD by studying the association of the rs2228570 (FokI) and rs1544410 (BsmI) single nucleotide polymorphisms (SNPs) of the VDR gene and serum levels of Vit.D with several CVD risk factors in patients with and without diabetes mellitus. We studied the genotypes for rs2228570 (FokI) and rs1544410 (BsmI) SNPs of the VDR gene in 382 Egyptian patients (120 CVD patients with diabetes, 124 CVD patients without diabetes, 69 diabetic patients without CVD and 69 healthy individuals). We also determined the serum levels of Vit.D, insulin, lipids, fasting blood glucose (FBG), and the body mass index (BMI).ResultsThe distribution of genotypes and allelic frequencies of the rs2228570 (FokI) and rs1544410 (BsmI) SNPs of the VDR gene was significant in CVD patients (p < 0.001). The level of Vit.D was significantly lower in patients with CVD and diabetes compared to those without diabetes (p < 0.001). Moreover, there was a significant association between Vit.D level and the selected SNPs with serum lipids, BMI, FBG, and insulin levels in CVD patients with or without diabetes.ConclusionThe level of Vit.D and the distribution of VDR polymorphisms are associated with risk of CVD in Egyptian patients with or without diabetes. These results suggest that VDR polymorphisms may be potential diagnostic biomarkers for CVD susceptibility.