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Multiple loci in the HLA complex are associated with Addison's disease
Beate Skinningsrud1, Benedicte A Lie, Ewa Lavant
1Department of Medical Genetics, Oslo University Hospital, Ullevål, N-0407 Oslo, Norway. beate.skinningsrud@medisin.uio.no
The Journal of Clinical Endocrinology and Metabolism
|August 6, 2011
Summary
Autoimmune Addison's disease (AAD) risk is linked to human leukocyte antigen (HLA) genes. DRB1 is the main risk factor, but HLA-B and MICA also contribute to AAD susceptibility.
Area of Science:
- Immunogenetics
- Human Leukocyte Antigen (HLA) complex
- Autoimmune Diseases
Background:
- Autoimmune Addison's disease (AAD) is strongly associated with human leukocyte antigen (HLA) class II genes.
- Emerging evidence suggests HLA class I genes (HLA-A, HLA-B) may independently influence autoimmune disease risk.
Purpose of the Study:
- To investigate the predisposing effects of HLA-A and HLA-B in autoimmune Addison's disease.
- To further examine the roles of MICA and HLA-DRB1-DQA1-DQB1 in a larger cohort.
Main Methods:
- Genotyping of HLA-A, HLA-B, HLA-DRB1, HLA-DQB1, and MICA microsatellite.
- Study included 414 AAD patients and 684 controls of Norwegian ancestry.
Main Results:
- The strongest genetic association with AAD was observed at the DRB1 locus, with specific alleles conferring significant risk.
- Even after accounting for DRB1, associations with HLA-B and MICA remained, indicating additional risk factors.
- Heterozygous combination of DRB1*03:01 and DRB1*04:04 showed a substantial increased risk for AAD.
Conclusions:
- The major histocompatibility complex contains multiple genetic loci contributing to AAD risk.
- HLA-DRB1 is identified as the primary genetic risk factor for autoimmune Addison's disease.
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