Background. There are insufficient data on the association of vitamin D receptor (VDR) genes polymorphism and type 2 diabetes mellitus (type 2 DM), and various components of metabolic syndrome among Egyptian patients. The aim of the present study was to study the association of different SNPs of VDR genes BsmI, ApaI, TaqI and FokI and components of metabolic syndrome and type 2 DM among cohort of Egyptian patients. Methods. The study is a case-control study. Patients included in the study were divided into three groups. Group 1 included 78 patients with type 2 DM; group 2 included 72 patients with metabolic syndrome and one hundred age-matched healthy subjects were served as control group. Full biochemical study and serum 25 hydroxy vitamin D (25(OH)D) were done. Purified DNA was subjected to study with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for genotyping of SNPs of VDR gene. Data were presented as mean and standard deviation, and were analysed as appropriate by using the one-way ANOVA or paired t-test. Pearson correlation coefficient was used to correlate between variables. Results. Study of VDR genetic polymorphism had shown significant increase in the prevalence of Ff genotypes among diabetic patients and patients with manifestations of metabolic syndrome. There was significant negative correlation between 25(OH)D and total cholesterol, triglyceride, fasting and post-prandial blood glucose levels, waist circumference and diastolic blood pressure. Conclusion. The genetic polymorphism of VDR might play a role in the pathophysiology of type 2 DM and metabolic syndrome., however, more longitudinal studies are still required to support these finding.
Metabolic syndrome, Diabetes mellitus, Polymorphism, Vitamin D receptor
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