Article
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
Journal of internal medicine - 1 Jul 2023
Aranda-Guillén Maribel, Røyrvik Ellen Christine, Fletcher-Sandersjöö Sara, Artaza Haydee, Botusan Ileana Ruxandra, Grytaas Marianne A, Hallgren Åsa, Breivik Lars, Pettersson Maria, Jørgensen Anders P, Lindstrand Anna, Vogt Elinor, Husebye Eystein S, Kämpe Olle, Wolff Anette S Bøe, Bensing Sophie, Johansson Stefan, Eriksson Daniel
Abstract excerpt
BACKGROUND: Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking. We hypothesized that polygenic risk score (PRS) for AAD could help investigate PAI pathogenesis in pediatric patients. METHODS: We here constructed and evaluated a PRS for AAD in...
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