ArticleNature genetics2015
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
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Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 456 papers, 7 of them syntheses that pooled it.
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456citing papers in PubMed, 7 pooled it
53.6field-weighted citation impact, top 1% of its field
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Who cites it
456 citing papers in PubMed, 7 syntheses or guidelines pooled it, 735 citations in OpenAlex.
- Association of genetic variation with age at diagnosis in type 1 diabetes.BMJ open diabetes research & care · 2026Pooled it
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- PASTRY: achieving balanced power for detecting risk and protective minor alleles in meta-analysis of association studies with overlapping subjects.BMC bioinformatics · 2024Pooled it
- Exploring the Causality of Type 1 Diabetes and Stroke Risk: A Mendelian Randomization Study and Meta-analysis.Molecular neurobiology · 2023Pooled it
- Genetic variation in cis-regulatory domains suggests cell type-specific regulatory mechanisms in immunity.Communications biology · 2023Pooled it
- Identifying shared genetic loci and common risk genes of rheumatoid arthritis associated with three autoimmune diseases based on large-scale cross-trait genome-wide association studies.Frontiers in immunology · 2023Pooled it
- Single-cell RNA sequencing reveals the dysfunctional characteristics of PBMCs in patients with type 2 diabetes mellitus.Frontiers in immunology · 2024Trial
- ProtectiveiScience · 2026Article
- Shared non-HLA genetic architecture across diverse ancestries links insulin secretion and resistance to type 1 diabetes.Diabetologia · 2026Article
- Immune dysregulation and stem-like CD8+ T cell enrichment in type 1 diabetes pancreatic lymph nodes.The Journal of clinical investigation · 2026Article
- Article
- Relative maternal protection against type 1 diabetes: A combined analysis of 5 observational studies.The Journal of clinical endocrinology and metabolism · 2026Article
- Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.Diabetologia · 2026Article
- Multi-tissue multi-omics integration reveals tissue-specific pathways, gene networks and drug candidates for type 1 diabetes.Diabetologia · 2026Article
- Autoimmune non-coding variants perturb transcription factor-cofactor complex assembly linked to enhancer activity.bioRxiv : the preprint server for biology · 2026Article
- Genetic association and machine learning improve the prediction of type 1 diabetes risk.Nature genetics · 2026Article
- Article
- Article
- Multivariate genetic analysis reveals three distinct pathological dimensions in musculoskeletal disorders.Nature communications · 2026Article
396 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 5 institutions in 2 countries.
Suna Onengut-Gumuscu1] Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA. [2] Department of Medicine, Division of Endocrinology, University of Virginia, Charlottesville, Virginia, USA.
Wei-Min Chen1] Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA. [2] Department of Public Health Sciences, Division of Biostatistics and Epidemiology, University of Virginia, Charlottesville, Virginia, USA.
Oliver BurrenJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Nick J CooperJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Aaron R Quinlan1] Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA. [2] Department of Public Health Sciences, Division of Biostatistics and Epidemiology, University of Virginia, Charlottesville, Virginia, USA.
Josyf C Mychaleckyj1] Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA. [2] Department of Public Health Sciences, Division of Biostatistics and Epidemiology, University of Virginia, Charlottesville, Virginia, USA.
Emily FarberCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.
Jessica K BonnieCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.
Michal SzpakCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.
Ellen SchofieldJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Premanand AchuthanJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Hui GuoJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Mary D FortuneJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Helen StevensJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Neil M WalkerJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Lucas D Ward1] Department of Computer Science, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts, USA. [2] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Anshul Kundaje1] Department of Computer Science, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts, USA. [2] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3] Department of Genetics, Stanford University, Stanford, California, USA. [4] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
Manolis Kellis1] Department of Computer Science, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts, USA. [2] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Mark J Daly1] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [2] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
Jeffrey C BarrettWellcome Trust Sanger Institute, Hinxton, UK.ORCID 000000021152370X
Jason D CooperJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Panos DeloukasWellcome Trust Sanger Institute, Hinxton, UK.ORCID 000000019251070X
Type 1 Diabetes Genetics Consortium
John A ToddJuvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Chris Wallace1] Juvenile Diabetes Research Foundation (JDRF)/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, National Institute for Health Research (NIHR) Biomedical Research Centre, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK. [2] Medical Research Council (MRC) Biostatistics Unit, Institute of Public Health, University Forvie Site, Cambridge, UK.ORCID 0000000197551703
Patrick ConcannonCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.ORCID 0000000258011859
Stephen S Rich1] Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA. [2] Department of Public Health Sciences, Division of Biostatistics and Epidemiology, University of Virginia, Charlottesville, Virginia, USA.
National Institute for Health Research · GBUniversity of Virginia · USBroad Institute · USUniversity of Virginia Health System · USWellcome Sanger Institute · GB
Funding
Type 1 Diabetes Genetics ConsortiumU01DK062418 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI RICH, STEPHEN S. · 2002 to 2007
$59.8MExpression and proteomic characterization of risk loci in type 1 diabetesDP3DK085678 · NIDDK · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$6.6MSUSCEPTIBILITY GENES IN TYPE I DIABETESR01DK046635 · NIDDK · UNIVERSITY OF VIRGINIA · PI CONCANNON, PATRICK · 1993 to 2013
$5.4MRegulatory Morif Discovery in the Human Genome Using Comparative GenomicsR01HG004037 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2007 to 2015
$3.9MRare Variants and Risk of Type 1 DiabetesR01DK096926 · NIDDK · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2012 to 2015
$2.3MMedical Research Council G1001799Medical Research Council MC_U105261167Medical Research Council MR/N01104X/1NHGRI NIH HHS R01 HG004037NIDDK NIH HHS DK046635NIDDK NIH HHS DK085678NIDDK NIH HHS DP3 DK085678NIDDK NIH HHS R01 DK046635NIDDK NIH HHS R01 DK096926NIDDK NIH HHS U01 DK062418Wellcome Trust 076113Wellcome Trust 089989Wellcome Trust 091157Wellcome Trust 100140Wellcome Trust WT061858/09115
Abstract
Genetic studies of type 1 diabetes (T1D) have identified 50 susceptibility regions, finding major pathways contributing to risk, with some loci shared across immune disorders. To make genetic comparisons across autoimmune disorders as informative as possible, a dense genotyping array, the Immunochip, was developed, from which we identified four new T1D-associated regions (P < 5 × 10(-8)). A comparative analysis with 15 immune diseases showed that T1D is more similar genetically to other autoantibody-positive diseases, significantly most similar to juvenile idiopathic arthritis and significantly least similar to ulcerative colitis, and provided support for three additional new T1D risk loci. Using a Bayesian approach, we defined credible sets for the T1D-associated SNPs. The associated SNPs localized to enhancer sequences active in thymus, T and B cells, and CD34(+) stem cells. Enhancer-promoter interactions can now be analyzed in these cell types to identify which particular genes and regulatory sequences are causal.
Indexed as
Chromosome MappingEnhancer Elements, GeneticGenetic LociPolymorphism, Single NucleotideAutoantibodiesAutoimmunityCase-Control StudiesDiabetes Mellitus, Type 1DNA Mutational AnalysisFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansLymphocytesMaleAutoantibodies
Identifiers
What OpenQuestion holds
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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.