Article
CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.
European journal of endocrinology - 1 Dec 2014
Brønstad Ingeborg, Skinningsrud Beate, Bratland Eirik, Løvås Kristian, Undlien Dag, Sverre Husebye Eystein, Wolff Anette Susanne Bøe
Abstract excerpt
OBJECTIVE: Steroid 21-hydroxylase, encoded by CYP21A2, is the major autoantigen in autoimmune Addison's disease (AAD). CYP21A2 is located in the region of the HLA complex on chromosome 6p21.3, which harbours several risk alleles for AAD. The objective was to investigate whether CYP21A2 gene variants confer risk of AAD independently of other risk alleles in the HLA loci. DESIGN: DNA samples from 381 Norwegian...
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