Vitamin D Receptor Gene Polymorphism FokI (rs2228570) among Egyptian Children with Type 1 Diabetes Mellitus | ||||
| The Egyptian Journal of Hospital Medicine | ||||
| Article 76, Volume 100, Issue 1, July 2025, Page 3066-3071 PDF (415.74 K) | ||||
| DOI: 10.21608/ejhm.2025.442414 | ||||
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| Abstract | ||||
| Background: T1DM is an autoimmune disease marked by pancreatic beta-cell destruction, causing lifelong insulin dependence. While often diagnosed in childhood, 25% of cases occur in adults. Egypt ranks among top ten countries globally for diabetes prevalence (ages 20–79). Human VDR gene has over 14 polymorphisms; among them, FokI (rs2228570) has been studied for its potential role in T1DM, as vitamin D signaling influences insulin receptor gene expression through VDR interactions. Objective: This study aims to investigate the association between the VDR gene FokI (rs2228570) polymorphism and susceptibility to T1DM among Egyptian children. Subjects and methods: This case-control investigation assessed association between FokI (rs2228570) polymorphism and T1DM in 200 Egyptian children (100 with T1DM and 100 healthy controls) aged 1 month to 18 years. Participants were recruited from Mansoura University Children’s Hospital between October 2023 and September 2024. Genotyping analysis was carried out utilizing real-time PCR technique. Results: The mean ages of cases and controls were 9.48 ± 3.22 and 8.85 ± 3.71 years respectively (p=0.216) with comparable sex distributions (p=0.322). Genotype frequencies (GG/AG/AA) were 51%/45%/4% in cases and 59%/37%/4% in controls (p>0.05). Allele distributions showed no substantial variations (G: 73.5% vs. 77.5%; A: 26.5% vs. 22.5%; p>0.05). Both groups were in Hardy-Weinberg equilibrium. Conclusion: FokI (rs2228570) polymorphism was not substantially correlated with T1DM in Egyptian children, indicating it may not play a major role in genetic susceptibility to T1DM in this population. | ||||
| Keywords | ||||
| Type 1 diabetes mellitus; Vitamin D receptor (VDR); FokI polymorphism; Genetic association | ||||
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