ArticleOxidative medicine and cellular longevity2022
Epigenome-Wide Association Study Reveals Differential Methylation Sites and Association of Gene Expression Regulation with Ischemic Moyamoya Disease in Adults.
Article in Oxidative medicine and cellular longevity, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 12 citations in OpenAlex.
- Integrated analysis of the association between methionine cycle and risk of moyamoya disease.CNS neuroscience & therapeutics · 2023Trial
- DNA Methylation as a Programmable Information Layer: From Molecular Marks to Disease State Engineering.International journal of molecular sciences · 2026Review
- Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4.BMC medicine · 2026Article
- Multi-omics research on moyamoya disease: current perspectives and future directions.Nutrition & metabolism · 2025Review
- Moyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.Molecular biomedicine · 2025Review
- Genome-Wide DNA Methylation Profiling Reveals Low Methylation Variability in Moyamoya Disease.Translational stroke research · 2025Article
- Recent Advances in Genetics of Moyamoya Disease: Insights into the Different Pathogenic Pathways.International journal of molecular sciences · 2025Review
- Non-Invasive Diagnosis of Moyamoya Disease Using Serum Metabolic Fingerprints and Machine Learning.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Review
- From genes to epigenes: DNA methylation in the pathogenesis of Moyamoya disease.EXCLI journal · 2025Article
- Insights into the regulatory role of epigenetics in moyamoya disease: Current advances and future prospectives.Molecular therapy. Nucleic acids · 2024Review
- Desmoglein-2 Affects Vascular Function in Moyamoya Disease by Interacting with MMP-9 and Influencing PI3K Signaling.Molecular neurobiology · 2024Article
- Circulating choline pathway nutrients and risk of moyamoya disease.Frontiers in nutrition · 2022Article
- DNA Methylation of Patatin-Like Phospholipase Domain-Containing Protein 6 Gene Contributes to the Risk of Intracranial Aneurysm in Males.Frontiers in aging neuroscience · 2022Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The association of DNA methylation with the pathogenesis of adult ischemic moyamoya disease (MMD) is unknown. Here, we investigated the genome-wide DNA methylation profiles in patients with MMD and identified the genes related to the pathogenesis of MMD. Methods: Whole blood samples were collected from 20 individuals, including 10 patients with ischemic moyamoya disease without any underlying disease and 10 healthy individuals. Genome-wide DNA methylation analysis was performed using Illumina 850K microarrays. Transcriptional correlation was verified using quantitative reverse transcription-polymerase chain reaction. In vitro experiments were used to analyze the association of functional defects with candidate epigenetic markers. Results: The genome-wide methylation level in the whole blood of adults with ischemic MMD was higher than that in the healthy individuals. In total, 759 methylation probes differed significantly between the case and control. The hypermethylated regions were mostly concentrated in the gene spacer regions. Among genes with the highest degree of the differential expression, KCNMA1 and GALNT2 were upregulated, whereas SOX6 and RBM33 were downregulated. Conclusions: This is the first study showing that the low expression of genes associated with epigenetic regulation, such as SOX6 and RBM33, may be related to vascular occlusion in MMD, whereas the overexpression of KCNMA1 and GALNT2 may be related to the vascular hyperplasia. The results suggest that DNA methylation was involved in the pathogenesis of MMD, and new pathogenic genes were proposed as biological markers.
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