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The genetics of Graves' disease

Lookup NU author(s): Lydia Grixti, Dr Laura Lane, Professor Simon PearceORCiD

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Abstract

© 2023, The Author(s). Graves’ disease (GD) is the commonest cause of hyperthyroidism and has a strong female preponderance. Everyday clinical practice suggests strong aggregation within families and twin studies demonstrate that genetic factors account for 60-80% of risk of developing GD. In this review, we collate numerous genetic studies and outline the discoveries over the years, starting with historic candidate gene studies and then exploring more recent genome-wide linkage and association studies, which have involved substantial cohorts of East Asian patients as well as those of European descent. Variants in genes including HLA, CTLA4, and PTPN22 have been shown to have substantial individual effects on disease susceptibility. In addition, we examine emerging evidence concerning the possibility that genetic variants may correlate with relevant clinical phenotypes including age of onset of GD, severity of thyrotoxicosis, goitre size and relapse of hyperthyroidism following antithyroid drug therapy, as well as thyroid eye disease. This review supports the inheritance of GD as a complex genetic trait, with a growing number of more than 80 susceptibility loci identified so far. Future implementation of more targeted clinical therapies requires larger studies investigating the influence of these genetic variants on the various phenotypes and different outcomes of conventional treatments.


Publication metadata

Author(s): Grixti L, Lane LC, Pearce SH

Publication type: Review

Publication status: Published

Journal: Reviews in Endocrine and Metabolic Disorders

Year: 2024

Volume: 25

Pages: 203-214

Print publication date: 01/02/2024

Online publication date: 18/12/2023

Acceptance date: 27/10/2023

ISSN (print): 1389-9155

ISSN (electronic): 1573-2606

Publisher: Springer

URL: https://doi.org/10.1007/s11154-023-09848-8

DOI: 10.1007/s11154-023-09848-8


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