Abstract Search

ea0070aep1096 | Hot topics (including COVID-19) | ECE2020

Limited genetic overlap between Hashimoto´s thyroiditis and Graves´ disease in Swedish twins: A population-based study

Skov Jakob , Calissendorff Jan , Eriksson Daniel , Ludvigsson Jonas , Magnusson Patrik , Kämpe Olle , Bensing Sophie , Kuja-Halkola Ralf

Background: Hashimoto´s thyroiditis (HT) and Graves´ disease (GD) are known co-aggregate in families, but the magnitude and nature of a shared etiology is unknown. The aim of this study was to estimate the shared genetic influence on these diseases. In addition, we sought to examine if the heritability of HT and GD differs between men and women.Methods: We used national health registries to identify cases of HT and GD in a cohort of 110 814 Swe...

0 shares

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...

0 shares

Endocrine Abstracts

Limited genetic overlap between Hashimoto´s thyroiditis and Graves´ disease in Swedish twins: A population-based study

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

BiosciAbstracts