ArticleDiabetologia2013
Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.
Article in Diabetologia, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 2 of them syntheses that pooled it.
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Who cites it
114 citing papers in PubMed, 2 syntheses or guidelines pooled it, 196 citations in OpenAlex.
- DNA methylation studies of depression with onset in the peripartum: A critical systematic review.Neuroscience and biobehavioral reviews · 2019Pooled it
- Epigenetics and human obesity.International journal of obesity (2005) · 2015Pooled it
- Different Methylation of CpG-SNPs in Behcet's Disease.BioMed research international · 2019Trial
- Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.PloS one · 2018Trial
- Epigenome-wide association of myocardial infarction with DNA methylation sites at loci related to cardiovascular disease.Clinical epigenetics · 2017Trial
- A variation in KCNQ1 gene is associated with repaglinide efficacy on insulin resistance in Chinese Type 2 Diabetes Mellitus Patients.Scientific reports · 2016Trial
- Genotype-dependent metabolic and inflammatory regulation at the ANRIL locus in human primary macrophages.Molecular genetics and genomics : MGG · 2026Article
- Cell-specific DNA methylation in human alpha and beta cells regulates gene expression in type 2 diabetes.Nature metabolism · 2026Article
- MAP kinase phosphatases in metabolic diseases.Trends in endocrinology and metabolism: TEM · 2026Review
- Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.Cellular & molecular biology letters · 2025Review
- Pharmaco-Epigenetics and Epigenetic Drugs in Type 2 Diabetes: Can Epigenetics Predict Drug Efficiency?Biomedicines · 2025Review
- Alternative Splicing Regulation in Metabolic Disorders.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- Current evidence on gender-related risk factors for type 1 diabetes, type 2 diabetes and prediabetes: a reappraisal of the Italian study group on gender difference in endocrine diseases.Journal of endocrinological investigation · 2025Review
- Impact of excess sugar on the whole genome DNA methylation pattern in human sperm.Epigenomics · 2025Article
- Association Between ABCG1/TCF7L2 and Type 2 Diabetes Mellitus: An Intervention Trial Based on a Case-Control Study.Journal of diabetes research · 2025Article
- Predicting type 2 diabetes via machine learning integration of multiple omics from human pancreatic islets.Scientific reports · 2024Article
- ANRIL: A Long Noncoding RNA in Age-related Diseases.Mini reviews in medicinal chemistry · 2024Review
- X-ray cross-complementing family: the bridge linking DNA damage repair and cancer.Journal of translational medicine · 2023Review
- Epigenetic regulation in metabolic diseases: mechanisms and advances in clinical study.Signal transduction and targeted therapy · 2023Review
- Exosomes as biomarkers and therapy in type 2 diabetes mellitus and associated complications.Frontiers in physiology · 2023Review
54 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aims/hypothesisTo date, the molecular function of most of the reported type 2 diabetes-associated loci remains unknown. The introduction or removal of cytosine-phosphate-guanine (CpG) dinucleotides, which are possible sites of DNA methylation, has been suggested as a potential mechanism through which single-nucleotide polymorphisms (SNPs) can affect gene function via epigenetics. The aim of this study was to examine if any of 40 SNPs previously associated with type 2 diabetes introduce or remove a CpG site and if these CpG-SNPs are associated with differential DNA methylation in pancreatic islets of 84 human donors.
methodsDNA methylation was analysed using pyrosequencing.
resultsWe found that 19 of 40 (48%) type 2 diabetes-associated SNPs introduce or remove a CpG site. Successful DNA methylation data were generated for 16 of these 19 CpG-SNP loci, representing the candidate genes TCF7L2, KCNQ1, PPARG, HHEX, CDKN2A, SLC30A8, DUSP9, CDKAL1, ADCY5, SRR, WFS1, IRS1, DUSP8, HMGA2, TSPAN8 and CHCHD9. All analysed CpG-SNPs were associated with differential DNA methylation of the CpG-SNP site in human islets. Moreover, six CpG-SNPs, representing TCF7L2, KCNQ1, CDKN2A, ADCY5, WFS1 and HMGA2, were also associated with DNA methylation of surrounding CpG sites. Some of the type 2 diabetes CpG-SNP sites that exhibit differential DNA methylation were further associated with gene expression, alternative splicing events determined by splice index, and hormone secretion in the human islets. The 19 type 2 diabetes-associated CpG-SNPs are in strong linkage disequilibrium (r² > 0.8) with a total of 295 SNPs, including 91 CpG-SNPs. CONCLUSIONS/
interpretationOur results suggest that the introduction or removal of a CpG site may be a molecular mechanism through which some of the type 2 diabetes SNPs affect gene function via differential DNA methylation and consequently contributes to the phenotype of the disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.