Vitamin D receptor gene polymorphism in Egyptian multiple sclerosis patients

The Egyptian Journal of Immunology
Volume 31 (2), April, 2024
Pages: 44 – 54.
Nermin R. Abdelwahab1, Randa R. Mabrouk1, Nahla M. Zakaria1, Azza Abdel Nasser2, Afaf A. Mostafa1, and Nancy S. Wahba1
1Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

2Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Corresponding author:
Nermin R. Abdelwahab, Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.



One of the most common neurological illnesses in the world is multiple sclerosis (MS), a chronic autoimmune demyelinating disease of the central nervous system (CNS). MS has both a genetic and an environmental origin. In terms of environmental factors, vitamin D deficiency is one of the most important risk factors and closely connected with gene polymorphisms involved in vitamin D metabolism, transport, or activity. Since vitamin D activity requires a receptor-mediated response, any changes to the vitamin D receptor (VDR) may have an effect on the pathophysiology of the disease. In this study, we aimed to identify the relationship between VDR gene polymorphisms, FokI A>G (rs2228570), ApaI A>C (rs7975232) and BsmI C>T (rs1544410) and MS. FokI, ApaI and BsmI genotypes were determined in 50 patients with relapsing remitting MS (RRMS) and in 50 control subjects. DNA was isolated from blood samples, and then FokI, ApaI and BsmI gene polymorphisms were identified using allelic discrimination real time polymerase chain reaction (PCR) assay. The distribution of FokI, ApaI and BsmI polymorphisms did not show any significant differences between MS patients and controls. Thus, we concluded that there is no association between the studied VDR gene polymorphisms and MS.

MS, SNP, Vitamin D receptor (VDR), FokI, ApaI and BsmI

Date received:
25 August 2023; accepted: 22 February 2024



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