Objective: To investigate the prevalence of single nucleotide polymorphisms of vitamin D receptor (VDR) gene, and its association with Type 2 Diabetes Mellitus.
Study design: Cross-sectional study.
Place and duration of study: Ziauddin University Hospital, Karachi, from January 2018 to 2020.
Methodology: A total of 200 unrelated individuals, aged 25 to 65 years, were selected and divided into two groups, T2DM patients (100) and non-diabetic controls (100). After consent, demographics, diabetic history and related risk factors were recorded in a standard questionnaire and blood was collected. The VDR (Fok1, Taq1 and Apa1) polymorphisms were analyzed through PCR and RFLP.
Results: In T2DM patients, F/F and F/f genotypes were found in 49 (49%) and 45 (45%) patients, respectively. The ff genotype was less common in T2DM [6 (6%)], compared to healthy controls [14 (14%)], (odds ratio=0.473, 95% CI: 0.267-0.839). The frequency of T/t genotype was 36% and 31% in the control and diabetic group respectively while for A/a genotype was 38% and 34% respectively, the results were not statistically significant.
Conclusion: T2DM was found significantly associated with Fok1 Polymorphisms of VDR gene. The study found a protective role of ff of Fok1 in diabetic patients. Further studies in larger cohorts are required for validation.
Key words: Polymorphism, Restriction fragment length, Receptor, Vitamin D3 receptor, Type 2 diabetes mellitus.