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Fok1 VDR Gene Polymorphisms as the Risk factor for Diabetes Mellitus
Muhammad Asif Memon1, Saeeda Baig2, Pirzada Qasim Raza Siddiqui3
1Department of Physiology, Gambat Medical College PAQSJIMS, Gambat, Pakistan.
Summary
Single nucleotide polymorphisms in the vitamin D receptor (VDR) gene were studied for their association with Type 2 Diabetes Mellitus (T2DM). The ff genotype of VDR Fok1 polymorphism showed a protective effect against T2DM.
Area of Science:
- Genetics and Molecular Biology
- Endocrinology
- Metabolic Diseases
Background:
- Vitamin D receptor (VDR) gene polymorphisms are implicated in various diseases.
- Type 2 Diabetes Mellitus (T2DM) is a global health concern with complex genetic factors.
- Understanding the role of VDR gene variants in T2DM pathogenesis is crucial for potential therapeutic strategies.
Purpose of the Study:
- To investigate the prevalence of single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene.
- To determine the association between VDR gene polymorphisms (Fok1, Taq1, Apa1) and Type 2 Diabetes Mellitus (T2DM).
Main Methods:
- A cross-sectional study involving 200 participants (100 T2DM patients, 100 controls) aged 25-65.
- VDR gene polymorphisms (Fok1, Taq1, Apa1) were analyzed using Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP).
- Demographic data, medical history, and risk factors were collected via questionnaire.
Main Results:
- The ff genotype of the VDR Fok1 polymorphism was significantly less common in T2DM patients (6%) compared to controls (14%), indicating a protective role (Odds Ratio=0.473).
- No statistically significant associations were found for Taq1 and Apa1 polymorphisms with T2DM.
- Genotype frequencies for Fok1 were F/F (49%) and F/f (45%) in T2DM patients.
Conclusions:
- Type 2 Diabetes Mellitus is significantly associated with Fok1 polymorphisms of the VDR gene.
- The ff genotype of VDR Fok1 exhibits a protective effect in diabetic patients.
- Further large-scale cohort studies are recommended for validation of these findings.
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