ESPEYB21 3. Thyroid Thyroid Autoimmunity (2 abstracts)
3.13. Epigenome-wide association study shows differential DNA methylation of MDC1, KLF9, and CUTA in autoimmune thyroid disease
Nicole Lafontaine , Christopher J Shore , Purdey J Campbell , Benjamin H Mullin , Suzanne J Brown , Vijay Panicker , Frank Dudbridge , Thomas H Brix , Laszlo Hegedüs , Scott G Wilson , Jordana T Bell & John P Walsh
J Clin Endocrinol Metab. 2024 Mar 15;109(4):992-999. doi: 10.1210/clinem/dgad659. PMID: 37962983
Brief Summary: This epigenome-wide association study (EWAS) aimed to identify differentially methylated positions (DMPs) and regions (DMRs) between Graves’ disease (GD) and Hashimoto’s disease (HD) in two independent patient cohorts from Australia (30 patients with GD and 30 with HD, discovery cohort) and Denmark (32 patients with GD and 32 with HD, replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm between GD and HD and data were later meta-analyzed. The study identified two DMPs with significant differences in methylation: one within the KLF9 gene, which is associated with thyroid hormone regulation, and another in MDC1, a gene involved in immune responses. Additionally, a differentially methylated region within the CUTA gene was replicated in both cohorts.
These findings suggest that epigenetic modifications, particularly DNAm, play a role in the development and clinical presentation of AITD, potentially influencing whether a patient develops GD or HD. KLF9 has been previously associated with thyroid hormone levels, while MDC1 is located in a region of the genome known to be important for immune regulation, particularly in T- and B-cell function.
These epigenetic differences could potentially serve as biomarkers for distinguishing between GD and HD, and may contribute to better understanding of how environmental factors interact with genetic predisposition to influence disease expression.
Volume 21
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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