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Association study of VDR gene with rheumatoid arthritis in the French population

Genes & Immunity volume 6, pages 707–711 (2005)Cite this article

Abstract

Vitamin D is a potent regulator of calcium homeostasis and may have immunomodulatory effects. The influence of vitamin D on human autoimmune disease is controversial. The aim of this study was to investigate the role of vitamin D receptor gene (VDR) in rheumatoid arthritis (RA). Three polymorphisms for VDR gene FokI T>C (rs 10735810), BsmI A>G (rs 1544410) and TaqI C>T (rs 731236) were genotyped in 100 RA French nuclear families (set 1) and 100 additional French nuclear families for replication (set 2). The association analysis was performed using comparison of alleles frequencies (AFBAC), transmission disequilibrium test and genotype relative risk. Our results revealed a significant difference of F allele of FokI polymorphism between transmitted and nontransmitted frequencies (P=0.01) in set 1. Furthermore, the F/F genotype was more frequent in RA patients compared to controls (P=0.01) in set 1. The replication in set 2 showed similar patterns of transmission with a nonsignificant association. Association with FokI was found to be significant when the two sets were combined (P=0.006). These data suggest that the F allele and F/F VDR genotype are associated with RA. The mechanisms by which distinct receptor variants might confer disease susceptibility remain to be elucidated.

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Acknowledgements

We thank the RA members for their participation, Docteur Sandra Lasbleiz (Unité de Génétique Clinique, Hôpital Lariboisière) for reviewing the clinical data and all the other members of GenHotel team. This work was funded by the Association Française des Polyarthritiques, Association de Recherche pour la Polyarthrite, Association Polyarctique, Association Rhumatisme et Travail, Société Française de Rhumatologie, Genopole, Université d'Evry-Val d'Essonne, Shering-Plough, Pfizer, Amgen, Conseil Régional Ile de France, Conseil Général de l' Essone, Ministère de la Recherche et de l'Enseignement Supérieur, Fondation pour la Recherche Médicale (France), Ministère de l'Enseignement Supérieur and Ministère la Recherche Scientifique et de la Technologie (Tunisie). We are grateful to Pr. Nadir Farid for his critical reading of the manuscript.

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Authors and Affiliations

  1. Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisia

    A Maalej & H Ayadi

  2. GenHotel Laboratoire de Recherche Européen pour la Polyarthrite Rhumatoïde, Université d'Evry-Val d'Essonne, ECRAF-Université Paris VII, Evry, France

    E Petit-Teixeira, L Michou & F Cornelis

  3. Unité de Génétique Clinique, Hôpital Lariboisière, Assistance Publique—Hôpitaux de Paris, Paris, France

    L Michou & F Cornelis

  4. Unité de Bio-informatique, Centre de Biotechnologie de Sfax, BP K, Sfax, Tunisia

    A Rebai

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  1. A Maalej
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Correspondence to H Ayadi.

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Maalej, A., Petit-Teixeira, E., Michou, L. et al. Association study of VDR gene with rheumatoid arthritis in the French population. Genes Immun 6, 707–711 (2005). https://doi.org/10.1038/sj.gene.6364260

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