Eur J Endocrinol
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DOI: 10.1530/eje.0.1470635
European Journal of Endocrinology, Vol 147, Issue 5, 635-640
Copyright © 2002 by European Society of Endocrinology
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Articles

Vitamin D receptor genotype is associated with Addison's disease

MA Pani, J Seissler, KH Usadel, and K Badenhoop

Department of Internal Medicine I, Division of Endocrinology, University Hospital Frankfurt, Theodor-Stern-Kai 7, D-60596 Frankfurt am Main, Germany.

OBJECTIVE: Autoimmune Addison's disease is a rare disorder which results from the T cell-mediated destruction of adrenocortical cells. A number of genetic susceptibility markers are shared by Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis. The vitamin D endocrine system has been shown to influence immune regulation. Variants of the nuclear vitamin D receptor (VDR) gene were found to be associated with type 1 diabetes and thyroid autoimmunity amongst others. We therefore investigated the role of VDR polymorphisms in Addison's disease. DESIGN AND METHODS: Patients (n=95) and controls (n=220) were genotyped for VDR polymorphisms FokI, BsmI, ApaI and TaqI. RESULTS: The 'ff' (13.7% vs 5.5%; P=0.0243; odds ratio = 2.75) and the 'tt' (28.4% vs 14.1%; P=0.0043; odds ratio = 2.42) genotypes were significantly more frequent in patients than in controls. Furthermore, the BsmI genotype distribution differed significantly between patients and controls (chi(2)=6.5016 (2 d.f.) P=0.0387). CONCLUSIONS: These data suggest that the VDR genotype is associated with Addison's disease. The mechanisms by which distinct receptor variants might confer disease susceptibility remain to be elucidated.


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