Vitamin D receptor genotype is associated with Addison's disease.
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.


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.
Pani
Michael A
MA
Department of Internal Medicine I, Division of Endocrinology, University Hospital Frankfurt, Theodor-Stern-Kai 7, D-60596 Frankfurt am Main, Germany.
Seissler
Jochen
J
Usadel
Klaus-H
KH
Badenhoop
Klaus
K
D000224:Addison Disease / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics*
D018167:Receptors, Calcitriol