ArticleMolecular metabolism2019
Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes.
Article in Molecular metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 44 citations in OpenAlex.
- Dabrafenib and trametinib-induced hyperglycemia with decreased insulin secretion in a patient with lung adenocarcinoma.JCEM case reports · 2026Article
- From pancreas and islet resources to diabetes insights.Diabetologia · 2026Review
- Multi-tissue multi-omics integration reveals tissue-specific pathways, gene networks and drug candidates for type 1 diabetes.Diabetologia · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Cell-specific DNA methylation in human alpha and beta cells regulates gene expression in type 2 diabetes.Nature metabolism · 2026Article
- iRUNNER: A Baseline Mutation Burden Regression for Identifying Gene Interaction Between Rare Variants for Diseases.Genomics, proteomics & bioinformatics · 2025Article
- A statistical physics approach to integrating multi-omics data for disease-module detection.Cell reports methods · 2025Article
- Screening of common genomic biomarkers to explore common drugs for the treatment of pancreatic and kidney cancers with type-2 diabetes through bioinformatics analysis.Scientific reports · 2025Article
- 2-Hydroxylation is a chemical switch linking fatty acids to glucose-stimulated insulin secretion.The Journal of biological chemistry · 2024Article
- Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Bridging the Gap: Pancreas Tissue Slices From Organ and Tissue Donors for the Study of Diabetes Pathogenesis.Diabetes · 2024Review
- Multiple genetic variants at thebioRxiv : the preprint server for biology · 2023Article
- rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.Scientific reports · 2023Article
- Identification of key genes and pathways associated with diabetes of the exocrine pancreas.Medicine · 2022Article
- Diabetes risk loci-associated pathways are shared across metabolic tissues.BMC genomics · 2022Article
- Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.International journal of environmental research and public health · 2022Review
- Bioinformatics Analysis Identifies Potential Ferroptosis Key Gene in Type 2 Diabetic Islet Dysfunction.Frontiers in endocrinology · 2022Article
- Type 2 Diabetes Mellitus and its comorbidity, Alzheimer's disease: Identifying critical microRNA using machine learning.Frontiers in endocrinology · 2022Article
- Identification of Type 2 Diabetes Based on a Ten-Gene Biomarker Prediction Model Constructed Using a Support Vector Machine Algorithm.BioMed research international · 2022Article
- Multi-omics profiling of living human pancreatic islet donors reveals heterogeneous beta cell trajectories towards type 2 diabetes.Nature metabolism · 2021Article
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Authors and funding
20 authors at 12 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGenome wide association studies (GWAS) for type 2 diabetes (T2D) have identified genetic loci that often localise in non-coding regions of the genome, suggesting gene regulation effects. We combined genetic and transcriptomic analysis from human islets obtained from brain-dead organ donors or surgical patients to detect expression quantitative trait loci (eQTLs) and shed light into the regulatory mechanisms of these genes.
methodsPancreatic islets were isolated either by laser capture microdissection (LCM) from surgical specimens of 103 metabolically phenotyped pancreatectomized patients (PPP) or by collagenase digestion of pancreas from 100 brain-dead organ donors (OD). Genotyping (> 8.7 million single nucleotide polymorphisms) and expression (> 47,000 transcripts and splice variants) analyses were combined to generate cis-eQTLs.
resultsAfter applying genome-wide false discovery rate significance thresholds, we identified 1,173 and 1,021 eQTLs in samples of OD and PPP, respectively. Among the strongest eQTLs shared between OD and PPP were CHURC1 (OD p-value=1.71 × 10
conclusionseQTL analysis of LCM islets from PPP led us to identify novel genes which had not been previously linked to islet biology and T2D. The understanding gained from eQTL approaches, especially using surgical samples of living patients, provides a more accurate 3-dimensional representation than those from genetic studies alone.
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