ArticleScientific reports2018
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Exploring antigenic variation in autoimmune endocrinopathy.Frontiers in immunology · 2025Review
- Aire Mutations and Autoimmune Diseases.Advances in experimental medicine and biology · 2025Review
- Genetic Polymorphisms in Exon 5 and Intron 5 and 7 ofBiology · 2024Article
- Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.Advances in experimental medicine and biology · 2024Article
- Review
- Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant.Molecular syndromology · 2023Article
- Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives.Frontiers in endocrinology · 2023Review
- SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis.Frontiers in immunology · 2023Review
- The genetics of autoimmune Addison disease: past, present and future.Nature reviews. Endocrinology · 2022Review
- Adrenal insufficiency.Nature reviews. Disease primers · 2021Review
- GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.Nature communications · 2021Article
- Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.Frontiers in immunology · 2021Review
- Familial associations for Addison's disease and between Addison's disease and other autoimmune diseases.Endocrine connections · 2020Article
- Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.Journal of clinical laboratory analysis · 2020Article
- Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.Journal of translational autoimmunity · 2019Article
- Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Immunological reviews · 2019Review
- Association BetweenIn vivo (Athens, Greece)Article
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Authors and funding
23 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population.
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