Thyroid disease

Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease

J Clin Endocrinol MetabPublished Epigenome-wide association study

Authors' conclusion

Our study reveals differences in DNAm between GD and HD, which may help explain why some people develop GD and others HD and provide a link to environmental risk factors. Additional research is needed to advance understanding of the role of DNAm in AITD and investigate its prognostic and therapeutic potential.

Study context

Population
Patients with autoimmune thyroid disease: Australian discovery cohort (32 Graves disease (GD), 30 Hashimoto disease (HD)) and Danish replication cohort (32 GD, 32 HD); whole-blood DNA methylation (Infinium MethylationEPIC array)discovery and replication cohorts
Comparison
GD vs HD
Outcome
Differentially methylated positions (DMPs) and regions (DMRs) comparing GD to HD
Methodological detailsdiscovery and replication cohorts, meta-analysis
  • Discovery and replication cohorts
  • Meta-analysis

Pooled result

As reported in the abstract

DMPs and DMRs between GD and HD

Epigenome-wide significant (P < 9E-8) and replicated (P < .05) differentially methylated positions (DMPs): cg06315208 within MDC1 and cg00049440 within KLF9

2

Identified and replicated DMR within CUTA (6p21.32)

5 CpGs

Further pooled results

DMPs in meta-analysis
64
Differentially methylated regions (DMRs) in meta-analysis
137

Original publication

Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease. J Clin Endocrinol Metab. Published 14 November 2023. doi:10.1210/clinem/dgad659

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