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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

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

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