Association of The Vitamin D Receptor Gene BsmI and FokI Polymorphisms with Systemic Sclerosis Risk in a Tunisian Population

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Published Apr 12, 2026
https://doi.org/10.62438/tunismed.v104i03.5648
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Vol. 104 No. 03 (2026): Tunis Med Mar 2026

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Daouda Dia
Laboratory of Biochemistry, Rabta Hospital, Tunis, Faculty of Medicine of Tunis, LR99ES11, University of Tunis El Manar, Tunis, Tunisia
Amani Kallel
Laboratory of Biochemistry, Rabta Hospital, Tunis, Faculty of Medicine of Tunis, LR99ES11, University of Tunis El Manar, Tunis, Tunisia
https://orcid.org/0000-0001-7975-6289
Rami Gasmi
Laboratory of Biochemistry, Rabta Hospital, Tunis, Faculty of Science of Tunis, University of Tunis El Manar, Tunis, Tunisia
Maissa Bouzidi
Department of Internal Medicine, Rabta Hospital, Tunis, Tunisia
Moncef Feki
Laboratory of Biochemistry, Rabta Hospital, Tunis, Faculty of Medicine of Tunis, LR99ES11, University of Tunis El Manar, Tunis, Tunisia
Imed Ben Ghorbel
Department of Internal Medicine, Rabta Hospital, Faculty of Medicine of Tunis, LR99ES11, University of Tunis El Manar, Tunis, Tunisia
Monia Smiti
Department of Internal Medicine, Rabta Hospital, Faculty of Medicine of Tunis, LR99ES11, University of Tunis El Manar, Tunis, Tunisia
Haifa Sanhaji
Laboratory of Biochemistry, Rabta Hospital, Tunis, Faculty of Medicine of Tunis, LR99ES11, University of Tunis El Manar, Tunis, Tunisia

Abstract

Introduction: Systemic sclerosis is a rare autoimmune disease characterized by microcirculation abnormalities and fibrosis of the skin and/or internal organs. Both genetic and environmental factors are recognized contributors to AID development. Vitamin D, through its receptor, plays a role in immune regulation, and the VDR gene has been identified as a candidate for AID susceptibility. However, studies examining the relationship between VDR polymorphisms and AIDs have yielded conflicting results, often varying by ethnic background.
Objectif: The purpose of this study was to investigate the association of FokI and BsmI polymorphisms of the VDR gene with systemic sclerosis in a Tunisian population.
Methods: A case-control study was conducted, involving 68 SSc patients and 190 healthy controls. Genotyping of the two polymorphisms was
performed using restriction fragment length polymorphism polymerase chain reaction, and data analysis was conducted via SPSS for Windows
(version 28.0).
Results: Results showed significant differences between SSc patients and controls for both polymorphisms. The BsmI bb genotype (0.28 vs. 0.12;
p=0.004) and b allele (0.49 vs. 0.36; p=0.014) were more frequent in SSc patients. Conversely, the FokI Ff (0.54 vs. 0.41; p=0.007) and ff (0.15 vs. 0.06; p=0.008) genotypes, along with the f allele (0.42 vs. 0.26; p<0.001), were more common in the control group.
Conclusion: The BsmI polymorphism was associated with increased genetic predisposition to SSc, whereas the FokI polymorphism appeared to
confer protection in the studied population.

Keywords:

Systemic sclerosis, vitamin D receptor, polymorphism, SNP, rs2228570 (FokI), rs1544410 (BsmI), Tunisian population

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