Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome
Authors' conclusion
Contrary to our hypothesis of generalized hypermethylation of promoter regions of thyroid-related genes-indicative of epigenetic silencing of promoters and subsequent transcriptional downregulation, causing biochemical thyroid abnormalities in DS-we found an enrichment of hypomethylated DMPs annotated to promoter regions of these genes. This suggests that CH and early SH in DS are not caused by differential methylation of thyroid-related genes.
Study context
- Population
- Down syndrome (DS) and non-DS individuals; whole blood DNA methylation profiles from four Illumina array-based datasets4 datasets
- Participants
- 252 vs 519
- Comparison
- DS vs non-DS individuals
- DSn = 252
- Non-DSn = 519reference
- Outcome
- Differential methylation of thyroid-related genes in DS
Methodological detailsfour independent Illumina array-based datasets, discovery and validation datasets, epigenome-wide association analysis (linear regression)
- Four independent Illumina array-based datasets
- Discovery and validation datasets
- Epigenome-wide association analysis (linear regression)
Pooled result
As reported in the abstract
- Discovery dataset: thyroid-related genes with significant associations for DS
- 18
- Significant differentially methylated positions (DMPs) also significant in validation dataset
- 21 of 30
- Meta-analysis: DMPs detected
- 31
- Promoter-associated CpG with identical direction of effect across datasets
- 29
- Differentially methylated regions
- 2
- Hypomethylated, promoter-associated DMPs
- 27
Further pooled results
- Mean methylation difference of hypomethylated thyroid-related DMPs decreased with age
Original publication
Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome. Thyroid. Published 20 December 2022. doi:10.
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