ArticleNature genetics2024
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Dysregulated adult hippocampal neurogenesis in major depressive disorder.Nature medicine · 2026Article
- Genome-wide methylation profiling identifies signatures of pain, fatigue and health scores in women with systemic lupus erythematosus.Rheumatology (Oxford, England) · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Population-scale detection of methylation outliers from long-read genome sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Article
- MeCP2 interacts with the super elongation complex to regulate transcription.Science advances · 2025Article
- Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
- A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.Nature communications · 2024Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.Genome research · 2024Article
- TRGT-denovo: accurate detection ofbioRxiv : the preprint server for biology · 2024Article
- Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.Genome medicine · 2024Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.medRxiv : the preprint server for health sciences · 2024Article
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Abstract
GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset disorders. Through a combination of DNA-methylation profiling and tandem repeat genotyping, we identified 24 methylated TREs and investigated their effects on human traits using phenome-wide association studies in 168,641 individuals from the UK Biobank, identifying 156 significant TRE-trait associations involving 17 different TREs. Of these, a GCC expansion in the promoter of AFF3 was associated with a 2.4-fold reduced probability of completing secondary education, an effect size comparable to several recurrent pathogenic microdeletions. In a cohort of 6,371 probands with neurodevelopmental problems of suspected genetic etiology, we observed a significant enrichment of AFF3 expansions compared with controls. With a population prevalence that is at least fivefold higher than the TRE that causes fragile X syndrome, AFF3 expansions represent a major cause of neurodevelopmental delay.
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