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Nat Rev Endocrinol. 2022; 18(7): 399-412. PMID: 35411072https://pubmed.ncbi.nlm.nih.gov/35411072/Brief Summary: This review summarizes the current knowledge and understanding of the genetics of autoimmune Addison disease and its position in the wider field of autoimmune disorders.Autoimmune Addisons disease (AAD) is caused by the destruction of the adrenal cortex...

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ey0018.8-10 | New Genes | ESPEYB18

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

D Eriksson , EC Royrvik , M Aranda-Guillen , AH Berger , N Landegren , H Artaza , AE Hallgren , MA Grytaas , S Strom , E Bratland , IR Botusan , BE Oftedal , L Breivik , M Vaudel , O Helgeland , A Falorni , AP Jorgensen , AL Hulting , J Svartberg , O Ekwall , KJ Fougner , J Wahlberg , BG Nedrebo , P Dahlqvist , PM Knappskog , ASB Wolff , S Bensing , S Johansson , O Kampe , ES Husebye

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The authors report a genome-wide association study (GWAS) of autoimmune Addisons disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...

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ey0020.6-4 | Important for Clinical Practice | ESPEYB20

6.4. A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies

M Aranda-Guillen , EC Royrvik , S Fletcher-Sandersjoo , H Artaza , IR Botusan , MA Grytaas , AE Hallgren , L Breivik , M Pettersson , AP Jorgensen , A Lindstrand , E Vogt , Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group , ES Husebye , O Kampe , ASB Wolff , S Bensing , S Johansson , D Eriksson

Brief summary: The authors designed a polygenic risk score (PRS) to aid in estimating disease susceptibility in patients with autoimmune Addisons disease (AAD).Autoimmune Addisons disease (AAD) is the most common cause of primary adrenal insufficiency (PAI) in adults. Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking (13). The aim of this study was t...

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ESPE Yearbook of Paediatric Endocrinology

8.15. The genetics of autoimmune Addison disease: past, present and future

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

6.4. A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies

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