ArticleAmerican journal of human genetics2018
A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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35citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 4% of its field
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
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- Notch signaling regulates the secretion of pro-metastatic factors in extracellular vesicles in liposarcoma.Cancer letters · 2026Article
- From Human to Mouse and Back Again: Genetic and Genomic Ta(i)les of Islet Dysfunction in Type 2 Diabetes.Annual review of genetics · 2025Review
- Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities.Nature communications · 2025Article
- Massively parallel variant-to-function mapping determines functional regulatory variants of non-small cell lung cancer.Nature communications · 2025Article
- Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.bioRxiv : the preprint server for biology · 2024Article
- Predicting the pro-longevity or anti-longevity effect of model organism genes with enhanced Gaussian noise augmentation-based contrastive learning on protein-protein interaction networks.NAR genomics and bioinformatics · 2024Article
- Multi-omic human pancreatic islet endoplasmic reticulum and cytokine stress response mapping provides type 2 diabetes genetic insights.Cell metabolism · 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
- C2CD4B Evokes Oxidative Stress and Vascular Dysfunction via a PI3K/Akt/PKCα-Signaling Pathway.Antioxidants (Basel, Switzerland) · 2024Article
- A critical review on therapeutic approaches of CRISPR-Cas9 in diabetes mellitus.Naunyn-Schmiedeberg's archives of pharmacology · 2023Review
- Multiple genetic variants at thebioRxiv : the preprint server for biology · 2023Article
- Selective Transcription Factor Blockade Reduces Human Retinal Endothelial Cell Expression of Intercellular Adhesion Molecule-1 and Leukocyte Binding.International journal of molecular sciences · 2023Article
- Estimation and implications of the genetic architecture of fasting and non-fasting blood glucose.Nature communications · 2023Article
- Transcriptional signature of islet neogenesis-associated protein peptide-treated rat pancreatic islets reveals induction of novel long non-coding RNAs.Frontiers in endocrinology · 2023Article
- Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.Wellcome open research · 2023Article
- Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers.Nature communications · 2022Article
- The novel circSLC6A6/miR-1265/C2CD4A axis promotes colorectal cancer growth by suppressing p53 signaling pathway.Journal of experimental & clinical cancer research : CR · 2021Article
- Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation.Nature communications · 2021Article
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Authors and funding
21 authors at 6 institutions in 2 countries.
Ina KyciaJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Brooke N WolfordNational Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Jeroen R HuygheDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Christian FuchsbergerDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Swarooparani VadlamudiDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Romy KursaweJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Ryan P WelchDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Ricardo d'Oliveira AlbanusDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.
Asli UyarJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Shubham KhetanJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Nathan LawlorJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Mohan BolisettyJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Anubhuti MathurJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Johanna KuusistoDepartment of Medicine, University of Eastern Finland and Kuopio University Hospital, 70210 Kuopio, Finland.
Markku LaaksoDepartment of Medicine, University of Eastern Finland and Kuopio University Hospital, 70210 Kuopio, Finland.
Duygu UcarJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Institute of Systems Genomics, University of Connecticut Health Center, Farmington, CT 06032, USA.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Francis S CollinsNational Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Stephen C J ParkerDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Michael L StitzelJackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Institute of Systems Genomics, University of Connecticut Health Center, Farmington, CT 06032, USA. Electronic address: michael.stitzel@jax.org.
Jackson Laboratory · USUniversity of Michigan–Ann Arbor · USNational Human Genome Research Institute · USUniversity of Eastern Finland · FIUniversity of North Carolina at Chapel Hill · USUConn Health · US
Funding
Genetic analysis of type II diabetes in Finnish populationZIAHG000024 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ERDOS, MICHAEL · 2009 to 2025
$38.2MRegional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MIdentifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6MTargeted Genetic Analysis of T2D and Quantitative TraitsR01DK072193 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2005 to 2026
$11.3MIdentifying Genes for Type 2 Diabetes:FUSIONR01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2003 to 2025
$6.7MFunctional genetic variants for type 2 diabetesU01DK105561 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI MOHLKE, KAREN L. · 2015 to 2019
$2.3MInvestigation of noncoding variation in human pancreatic islets and their developR00DK092251 · NIDDK · JACKSON LABORATORY · PI STITZEL, MICHAEL LEE · 2014 to 2016
$794kSynthesizing genome, epigenome, and transcriptome datasets in type 2 diabetes.R00DK099240 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PARKER, STEPHEN CJ · 2015 to 2017
$726kIdentifying Genes for Type 2 Diabetes: FUSIONR56DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 2008 to 2008
$500kIntramural NIH HHS ZIA HG000024NHGRI NIH HHS T32 HG000040NIDDK NIH HHS K99 DK092251NIDDK NIH HHS K99 DK099240NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R00 DK092251NIDDK NIH HHS R00 DK099240NIDDK NIH HHS R01 DK062370NIDDK NIH HHS R01 DK072193NIDDK NIH HHS R56 DK062370NIDDK NIH HHS U01 DK062370NIDDK NIH HHS U01 DK105561
Abstract
Genome-wide association studies (GWASs) and functional genomics approaches implicate enhancer disruption in islet dysfunction and type 2 diabetes (T2D) risk. We applied genetic fine-mapping and functional (epi)genomic approaches to a T2D- and proinsulin-associated 15q22.2 locus to identify a most likely causal variant, determine its direction of effect, and elucidate plausible target genes. Fine-mapping and conditional analyses of proinsulin levels of 8,635 non-diabetic individuals from the METSIM study support a single association signal represented by a cluster of 16 strongly associated (p < 10
Indexed as
Conserved SequenceEvolution, MolecularAgedAllelesAnimalsBase SequenceCalcium-Binding ProteinsCell LineChromatinChromosomes, Human, Pair 15CytokinesDNA, IntergenicEnhancer Elements, GeneticHumansInflammation MediatorsIslets of LangerhansC2CD4A protein, humanC2CD4B protein, humanCalcium-Binding ProteinsChromatinCytokinesDNA, IntergenicInflammation MediatorsNFATC Transcription FactorsNuclear ProteinsProinsulinTranscription FactorsC2CD4AC2CD4Bcomparative genomicsGWASinflammationisletNFATproinsulinrs7163757stretch or super enhancer
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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.