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. 2024 Mar;22(1):100343.
doi: 10.1016/j.jgeb.2023.100343. Epub 2024 Jan 22.

Assessment of vitamin D status and vitamin D receptor polymorphism in Egyptian children with Type 1 diabetes

Eman A Mostafa  1 , Maha M A Abo Hashish  2 , Nagwa Abdallah Ismail  2 , Hasanin M Hasanin  2 , Rasha M Hasanin  2 , Aliaa Ahmed Wahby  3 , Ingy Ashmawy  3 , Shereen Hamdy Abd El Aziz  3 , Mai Magdy Abdel Wahed  3
Affiliations

Assessment of vitamin D status and vitamin D receptor polymorphism in Egyptian children with Type 1 diabetes

Eman A Mostafa et al. J Genet Eng Biotechnol. 2024 Mar.

Abstract

Background: The endocrine system of vitamin D regulates about 3 % of the human genome. Vitamin D exerts its actions via a nuclear vitamin D receptor (VDR) which in turn regulates insulin secretion from the pancreas. VDR gene polymorphisms could have an impact on how autoimmune illnesses like Type 1 diabetes mellitus (T1DM) develop. We aimed to explore the relation between T1DM and VDR gene polymorphisms in Egyptian diabetic children and their siblings.

Methods: Enzyme-linked immunosorbent assay was used to quantify 25(OH) vitamin D in the study, which had 179 participants (group 1 = 85 diabetic children, group 2 = 57 siblings of the patients, group 3 = 37 healthy controls). Real-time polymerase chain reaction (RT-PCR) was used to analyze the genotyping of the VDR gene polymorphisms Apa-I (rs7975232), Fok-I (rs2228570), Taq-I (rs731236) and Bsm-I (rs1544410).

Results: The mean serum 25(OH) vitamin D levels was significantly lower in T1DM patients (14.99 ± 9.24 ng/mL) and siblings (16.31 ± 7.96 ng/mL) compared to the controls (19.48 ± 7.42 ng/mL) (p = 0.031). The genotypes distribution of VDR Fok-I (rs2228570) and Bsm-I (rs1544410) polymorphisms showed a significant difference between patients, siblings and controls as P = 0.001 and 0.026 respectively, while the VDR ApaI and TaqI polymorphisms did not. FokI-A allele frequency was significantly lower in T1DM patients and siblings than in controls (p < 0.001). FokI-AA genotype had a statistical significant higher vitamin D levels than other genotypes with p value of 0.024.

Conclusion: Our study found that T1DM children had lower vitamin D levels, and VDR FokI and BsmI gene polymorphisms were linked to T1DM in Egyptian children. Determining the relationship between vitamin D levels and VDR polymorphisms, particularly the FokI and other genetic analyses may aid in the early diagnosis of T1DM in children.

Keywords: Children; Polymorphism; Type 1 diabetes mellitus (T1DM); Vitamin D receptor (VDR).

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Frequency of complication in T1DM group.
Fig. 2
Fig. 2
Serum 25(OH) Vitamin D levels (ng/mL) in the studied groups.
See this image and copyright information in PMC

References

    1. Tsang V.H., McGrath R.T., CliftonBligh R.J., et al. Checkpoint inhibitor–associated autoimmune diabetes is distinct from type 1 diabetes. J Clin Endocrinol Metab. 2019;104:5499–5506. - PubMed
    1. International Diabetes Federation. The IDF Diabetes Atlas, 9th ed. Brussels (Belgium); 2019. Available at: https://www.diabetesatlas.org.
    1. International Diabetes Federation. The IDF Diabetes Atlas, 10th ed. Brussels (Belgium); 2021. Available at: https://www.diabetesatlas.org.
    1. Mukhtar M., Batool A., Wajid A., et al. Vitamin D receptor gene polymorphisms influence T1D susceptibility among Pakistanis. Int J Genomics. 2017;2017:1–6. - PMC - PubMed
    1. Barrett J.C., Clayton D.G., Concannon P., et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet. 2009;41:703–707. - PMC - PubMed

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