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ea0099ep736 | Adrenal and Cardiovascular Endocrinology | ECE2024

Polygenic risk score for autoimmune Addison’s disease combined with whole-genome sequencing identifies patients with undiagnosed monogenic primary adrenal insufficiency

Aranda-Guillen Maribel , Botusan Ileana R. , Fernando Venuja , Royrvik Ellen , Susanne Boe Wolff Anette , Johansson Stefan , Sverre Husebye Eystein , Bensing Sophie , Kampe Olle , Eriksson Daniel

Background: Primary adrenal insufficiency (PAI) is sometimes misdiagnosed as autoimmune Addisons disease (AAD), affecting clinical management and genetic counselling. We tested a polygenic risk score (PRS) for AAD (PRS14AAD) as a tool to reevaluate disease etiology and identify patients misdiagnosed with AAD.Methods: We calculated the PRS14AAD in a cohort of patients diagnosed with AAD but lacking 21-hydroxylase autoantibodies...

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ea0031p318 | Steroids | SFEBES2013

Novel loci for familial autoimmune Addison's disease detected by linkage analysis

Mitchell Anna L , Boe Wolff Anette , Gan Earn H , MacArthur Katie , Erichsen Martina M , Weaver Jolanta U , Vaidya Bijay , Bensing Sophie , Husebye Eystein , Cordell Heather J , Pearce Simon H S

Due to the rarity of autoimmune Addisons disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...

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Endocrine Abstracts

Polygenic risk score for autoimmune Addison’s disease combined with whole-genome sequencing identifies patients with undiagnosed monogenic primary adrenal insufficiency

Novel loci for familial autoimmune Addison's disease detected by linkage analysis

BiosciAbstracts