• J Coll Physicians Surg Pak · May 2022

    Fok1 VDR Gene Polymorphisms as the Risk factor for Diabetes Mellitus.

    • Muhammad Asif Memon, Saeeda Baig, and Pirzada Qasim Raza Siddiqui.
    • Department of Physiology, Gambat Medical College PAQSJIMS, Gambat, Pakistan.
    • J Coll Physicians Surg Pak. 2022 May 1; 32 (5): 581-585.

    ObjectiveTo 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 StudyZiauddin University Hospital, Karachi, from January 2018 to 2020.MethodologyA 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.ResultsIn 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.ConclusionT2DM 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 WordsPolymorphism, Restriction fragment length, Receptor, Vitamin D3 receptor, Type 2 diabetes mellitus.

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