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Endocrine Abstracts (2020) 70 AEP1096 | DOI: 10.1530/endoabs.70.AEP1096

ECE2020 Audio ePoster Presentations Hot topics (including COVID-19) (110 abstracts)

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

Jakob Skov 1 , Jan Calissendorff 1 , Daniel Eriksson 2 , Jonas Ludvigsson 3 , Patrik Magnusson 3 , Olle Kämpe 4 , Sophie Bensing 1 & Ralf Kuja-Halkola 3


1Karolinska Institutet, Department of Molecular Medicine and Science, STOCKHOLM, Sweden; 2Karolinska Institutet, Department of Medicine, Stockholm, Sweden; 3Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden; 4Karolinska Institutet, Department of Medicine, Stockholm, Sweden


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 Swedish twins. By comparing intra-class and cross-twin cross-trait concordance in dizygotic and monozygotic twins, we calculated heritability and the proportions thereof shared between the diseases. Univariate estimates of heritability were calculated separately by sex.

Results: The heritability for HT and GD was 65% (95% CI, 61–70%) and 63% (95% CI, 55–72%) respectively. The genetic correlation was 0.35 (95% CI, 0.20–0.50) and shared genetic effects accounted for 8% of the variance for both HT and GD. Univariate heritability was significantly higher in men than in women for HT (90% vs 60%, P < 0.001) but not for GD (79% vs 63%, P < 0.085).

Interpretation: HT and GD appear to be only modestly related diseases. Hence, the term ‘autoimmune thyroid diseases’, commonly used to cluster these disorders, has limited validity from an etiological perspective. Moreover, the mechanisms contributing to disease are partly different for the sexes, with genetic components more important in men than in women.

Volume 70

22nd European Congress of Endocrinology

Online
05 Sep 2020 - 09 Sep 2020

European Society of Endocrinology 

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