DNA methylation in autoimmune thyroid disease

Research output: Contribution to journalReview articlepeer-review

6 Citations (Scopus)


Graves' disease and Hashimoto's disease form part of the spectrum of autoimmune thyroid disease (AITD), to which genetic and environmental factors are recognised contributors. Epigenetics provides a potential link between environmental influences, gene expression and thyroid autoimmunity. DNA methylation (DNAm) is the best studied epigenetic process, and global hypomethylation of leucocyte DNA is reported in several autoimmune disorders. This review summarises current understanding of DNAm in AITD. Targeted DNAm studies of blood samples from AITD patients have reported differential DNAm in the promoter regions of several genes implicated in AITD, including TNF, IFNG, IL2RA, IL6, ICAM1 and PTPN22. In many cases, however, the findings await replication and are unsupported by functional studies to support causal roles in AITD pathogenesis. Furthermore, thyroid hormones affect DNAm, and in many studies confounding by reverse causation has not been considered. Recent studies have shown that DNAm patterns in candidate genes including ITGA6, PRKAA2 and DAPK1 differ between AITD patients from regions with different iodine status, providing a potential mechanism for associations between iodine and AITD. Research focus in the field is moving from candidate gene studies to an epigenome-wide approach. Genome-wide methylation studies of AITD patients have demonstrated multiple differentially methylated positions, including some in immunoregulatory genes such as NOTCH1, HLA-DRB1, TNF and ICAM1. Large, epigenome-wide studies are required to elucidate the pathophysiological role of DNAm in AITD, with the potential to provide novel diagnostic and prognostic biomarkers as well as therapeutic targets.
Original languageEnglish
Pages (from-to)604-613
Number of pages10
JournalJournal of Clinical Endocrinology & Metabolism
Issue number3
Publication statusPublished - 1 Mar 2023


Dive into the research topics of 'DNA methylation in autoimmune thyroid disease'. Together they form a unique fingerprint.

Cite this