ArticleInvestigative ophthalmology & visual science2022
Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children.
Article in Investigative ophthalmology & visual science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.Clinical epigenetics · 2024Pooled it
- Potential Ferroptosis-Related Genes and Immune Infiltration in Form-Deprivation Myopia: An Integrative Bioinformatics and in vitro Validation Study.International journal of general medicine · 2026Article
- Associations between mechanical stress and epigenetic modifications in outer retinal layer remodeling in high myopia.Frontiers in medicine · 2026Review
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- New perspectives on DNA methylation modifications in ocular diseases.International journal of ophthalmology · 2025Review
- Research Progress of Epigenetic Modifications in Myopia.International journal of medical sciences · 2025Review
- Review
- Epitranscriptomic investigation of myopia-associated RNA editing in the retina.Frontiers in neuroscience · 2023Article
- Differential methylation of microRNA encoding genes may contribute to high myopia.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: High myopia (HM), an eye disorder with at least -6.0 diopters refractive error, has a complex etiology with environmental, genetic, and likely epigenetic factors involved. To complement the DNA methylation assessment in children with HM, we analyzed genes that had significantly lower DNA methylation levels. Methods: The DNA methylation pattern was studied based on the genome-wide methylation data of 18 Polish children with HM paired with 18 controls. Genes overlapping CG dinucleotides with decreased methylation level in HM cases were assessed by enrichment analyses. From those, genes with CG dinucleotides in promoter regions were further evaluated based on exome sequencing (ES) data of 16 patients with HM from unrelated Polish families, Sanger sequencing data of the studied children, and the RNA sequencing data of human retinal ARPE-19 cells. Results: The CG dinucleotide with the most decreased methylation level in cases was identified in a promoter region of PCDHA10 that overlaps intronic regions of PCDHA1-9 of the PCDHA gene cluster in myopia 5q31 locus. Also, two single nucleotide variants, rs200661444, detected in our ES, and rs246073, previously found as associated with a refractive error in a genome-wide association study, were revealed within this gene cluster. Additionally, genes previously linked to ocular phenotypes, myopia-related traits, or loci, including ADAM20, ZFAND6, ETS1, ABHD13, SBSPON, SORBS2, LMOD3, ATXN1, and FARP2, were found to have decreased methylation. Conclusions: Alterations in the methylation pattern of specific CG dinucleotides may be associated with early-onset HM, so this could be used to develop noninvasive biomarkers of HM in children and adolescents.
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