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CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.
Eur J Endocrinol
December 2014
Department of Clinical ScienceUniversity of Bergen, Laboratory building, 8th floor, Bergen 5021, NorwayDepartment of Medical GeneticsOslo University Hospital, Oslo 0407, NorwayDepartment of MedicineHaukeland University Hospital, Bergen 5021, NorwayInstitute of Medical GeneticsUniversity of Oslo, Oslo 0315, Norway.
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.
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