ArticleAmerican journal of human genetics2023
Loci for insulin processing and secretion provide insight into type 2 diabetes risk.
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Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
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29citing papers in PubMed, 1 pooled it
13.5field-weighted citation impact, top 1% of its field
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.European journal of epidemiology · 2023Pooled it
- Refining the Genetic Contribution to Type 2 Diabetes Subtypes.Diabetes, obesity & metabolism · 2026Article
- Genetic and molecular signatures highlight diverse pathways linking obesity to type 2 diabetes.Nature communications · 2026Article
- Higher diabetes genetic load in proliferative diabetic retinopathy in South India: The South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- GWAS-by-subtraction reveals new genetic architecture and health implications of type 2 diabetes-independent gestational diabetes mellitus.Genome medicine · 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
- Combining functional annotation and multi-trait fine-mapping methods improves fine-mapping resolution at glycaemic trait loci.Human molecular genetics · 2026Article
- Circulating metabolites, genetics and lifestyle factors in relation to future risk of type 2 diabetes.Nature medicine · 2026Article
- Genome writing and Targeted Delivery of thebioRxiv : the preprint server for biology · 2026Article
- Efficacy of Novel Drug Delivery Systems for Insulin Administration and Technological Advances in Diabetes Mellitus: Review.AAPS PharmSciTech · 2025Review
- Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding.American journal of human genetics · 2025Article
- Signs of immune dysregulation in second-trimester maternal blood RNA profiles in late-onset preeclampsia.Scientific reports · 2025Article
- Identification of type 2 diabetes- and obesity-associated human β-cells using deep transfer learning.eLife · 2025Article
- Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation.Nature reviews. Endocrinology · 2025Review
- Weight loss mediates improvement in proinsulin processing during GLP-1 receptor agonist treatment.Diabetology & metabolic syndrome · 2025Article
- TBC1D30 regulates proinsulin and insulin secretion and is the target of a genomic association signal for proinsulin.Diabetologia · 2025Article
- Genome-wide association study identifying novel risk variants associated with glycaemic traits in the continental African AWI-Gen cohort.Diabetologia · 2025Article
- A computational framework for identifying cytoskeletal genes associated with age-related diseases.Scientific reports · 2025Article
- Insulin-related traits and prostate cancer: A Mendelian randomization study.Computational and structural biotechnology journal · 2024Article
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Authors and funding
71 authors at 20 institutions in 10 countries.
K Alaine BroadawayDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Xianyong YinDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Alice WilliamsonMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK; University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK.
Victoria A ParsonsDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Emma P WilsonDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Anne H MoxleyDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Swarooparani VadlamudiDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Arushi VarshneyDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Anne U JacksonCenter for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Vasudha AhujaInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Stefan R BornsteinDepartment of Internal Medicine, Metabolic and Vascular Medicine, MedicCal Faculty Carl Gustav Carus, Dresden, Germany; Helmholtz Zentrum München, Paul Langerhans Institute Dresden, University Hospital and Faculty of Medicine, TU Dresden, Dresden, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Laura J CorbinMedical Research Council Integrative Epidemiology Unit at the University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Graciela E DelgadoMedical Faculty Mannheim, Heidelberg University, Mannheim, BW, Germany.
Om P DwivediUniversity of Helsinki, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland.
Lilian Fernandes SilvaInstitute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Timothy M FraylingCollege of Medicine and Health, Exeter University, Exeter, UK.
Harald GrallertResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany; Institute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Stefan GustafssonDepartment of Medical Sciences, Clinical Epidemiology, Uppsala University, Uppsala, Sweden.
Liisa HakasteInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Ulf HammarDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Christian HerderGerman Center for Diabetes Research, Neuherberg, Germany; Institute for Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University Düsseldorf, Düsseldorf, Germany; Department of Endocrinology and Diabetology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Sandra HerrmannDepartment of Internal Medicine, Prevention and Care of Diabetes, Medical Faculty Carl Gustav Carus, Dresden, Germany; Helmholtz Zentrum München, Paul Langerhans Institute Dresden, University Hospital and Faculty of Medicine, TU Dresden, Dresden, Germany.
Kurt HøjlundSteno Diabetes Center Odense, Odense, Denmark.
David A HughesMedical Research Council Integrative Epidemiology Unit at the University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Marcus E KleberMedical Faculty Mannheim, Heidelberg University, Mannheim, BW, Germany; SYNLAB MVZ Humangenetik Mannheim, Mannheim, BW, Germany.
Cecilia M LindgrenOxford Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Nuffield Department of Population Health, University of Oxford, Oxford, UK; Wellcome Trust Centre Human Genetics, University of Oxford, Oxford, UK; Broad Institute, Cambridge, MA, USA.
Ching-Ti LiuDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Jian'an LuanMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Anni MalmbergDepartment of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Angela P MoisslInstitute of Nutritional Sciences, Friedrich-Schiller-University, Jena, Germany; Competence Cluster for Nutrition and Cardiovascular Health, Halle-Jena-Leipzig, Germany; Medical Faculty Mannheim, Heidelberg University, Mannheim, BW, Germany.
Andrew P MorrisCentre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK.
Nikolaos PerakakisDepartment of Internal Medicine, Metabolic and Vascular Medicine, MedicCal Faculty Carl Gustav Carus, Dresden, Germany; Helmholtz Zentrum München, Paul Langerhans Institute Dresden, University Hospital and Faculty of Medicine, TU Dresden, Dresden, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Annette PetersInstitute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research, Neuherberg, Germany.
John R PetrieSchool of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Michael RodenInstitute for Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University Düsseldorf, Düsseldorf, Germany; Department of Endocrinology and Diabetology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Peter E H SchwarzDepartment of Internal Medicine, Prevention and Care of Diabetes, Medical Faculty Carl Gustav Carus, Dresden, Germany; Helmholtz Zentrum München, Paul Langerhans Institute Dresden, University Hospital and Faculty of Medicine, TU Dresden, Dresden, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Sapna SharmaGerman Center for Diabetes Research, Neuherberg, Germany; Research Unit of Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany; Institute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany; Chair of Food Chemistry and Molecular Sensory Science, Technische Universität München, Freising, Germany.
Angela SilveiraDepartment of Medicine Solna, Division of Cardiovascular Medicine, Karolinska Institutet, Stockholm, Sweden; Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Rona J StrawbridgeInstitute of Health and Wellbeing, Mental Health and Wellbeing, University of Glasgow, Glasgow, UK; Department of Medicine Solna, Division of Cardiovascular Medicine, Karolinska Institutet, Stockholm, Sweden.
Tiinamaija TuomiInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Abdominal Center, Endocrinology, Helsinki University Hospital, Helsinki, Finland.
Andrew R WoodGenetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, UK.
Peitao WuDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Björn ZetheliusDepartment of Geriatrics, Uppsala University, Uppsala, Sweden.
Damiano BaldassarreDepartment of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, Italy; Cardiovascular Prevention Area, Centro Cardiologico Monzino I.R.C.C.S., Milan, Italy.
Johan G ErikssonDepartment of General Practice and Primary Health Care, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Folkhälsan Research Centre, Helsinki, Finland; Department of Obstetrics and Gynecology, Yong Loo Lin School of Medicine, National University Singapore, Singapore, Singapore.
Tove FallDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Jose C FlorezDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Programs in Metabolism and Medical & Population Genetics, Broad Institute, Cambridge, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Andreas FritscheDepartment of Internal Medicine, Diabetology, Tübingen, Germany; Institute for Diabetes Research and Metabolic Diseases, Helmholtz Center Munich, University of Tübingen, Tübingen, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Bruna GiganteDepartment of Medicine Solna, Division of Cardiovascular Medicine, Karolinska Institutet, Stockholm, Sweden.
Anders HamstenDepartment of Medicine Solna, Division of Cardiovascular Medicine, Karolinska Institutet, Stockholm, Sweden.
Eero KajantiePopulation Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland; PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Markku LaaksoInstitute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Jari LahtiDepartment of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Deborah A LawlorMedical Research Council Integrative Epidemiology Unit at the University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Lars LindDepartment of Medical Sciences, Clinical Epidemiology, Uppsala University, Uppsala, Sweden.
Winfried MärzSynlab Academy, SYNLAB Holding Deutschland GmbH, Mannheim, BW, Germany; Medical Faculty Mannheim, Heidelberg University, Mannheim, BW, Germany.
James B MeigsDepartment of Medicine, Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
Johan SundströmDepartment of Medical Sciences, Clinical Epidemiology, Uppsala University, Uppsala, Sweden.
Nicholas J TimpsonMedical Research Council Integrative Epidemiology Unit at the University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Robert WagnerDepartment of Internal Medicine, Diabetology, Tübingen, Germany; Institute for Diabetes Research and Metabolic Diseases, Helmholtz Center Munich, University of Tübingen, Tübingen, Germany; German Center for Diabetes Research, Neuherberg, Germany.
Mark WalkerFaculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Nicholas J WarehamMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK; Health Data Research UK, Gibbs Building, London, UK.
Hugh WatkinsDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Inês BarrosoExeter Centre of Excellence for Diabetes Research, Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
Stephen O'RahillyMRC Metabolic Diseases Unit, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Niels GrarupNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Stephen Cj ParkerDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Michael BoehnkeDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Claudia LangenbergMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK; Computational Medicine, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany; Precision Healthcare University Research Institute, Queen Mary University of London, London, UK.
Eleanor WheelerMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK. Electronic address: eleanor.wheeler@mrc-epid.cam.ac.uk.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA. Electronic address: mohlke@med.unc.edu.
University of Helsinki · FIHelmholtz Zentrum München · DEUniversity of North Carolina at Chapel Hill · USUppsala University · SEUniversity of Cambridge · GBUniversity of Michigan · USBristol City Council · GBBroad Institute · USKarolinska Institutet · SEUniversity of Exeter · GBBoston University · USDeutsches Diabetes-Zentrum e.V. · DEDüsseldorf University Hospital · DEHeidelberg University · DEUniversity of Eastern Finland · FICentre for Human Genetics · GBNewcastle University · GBQueen Mary University of London · GBSteno Diabetes Centers · DKSynlab Czech (Czechia) · CZ
Funding
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3MTargeted Genetic Analysis of T2D and Quantitative TraitsR01DK072193 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2005 to 2026
$11.3MGenetic epidemiology of rare and regulatory variants for metabolic traitsR01DK093757 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2011 to 2026
$8.2MVanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3MIdentifying Genes for Type 2 Diabetes:FUSIONR01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2003 to 2025
$6.7MNRSA in GeneticsT32GM135128 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Daniel J McKay, JEFF J. SEKELSKY · 2020 to 2026
$5.1MThe Genetic Epidemiology of Heart, Lung, and Blood TraitsTraining Grant (GenHLB)T32HL129982 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Christy Leigh Avery, KAREN L. MOHLKE · 2016 to 2026
$3.8MPredoctoral Training Program in Bioinformatics and Computational BiologyT32GM135123 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Michael Isaiah Love, William Valdar · 2021 to 2026
$1.7MBritish Heart Foundation CH/1992001/6764British Heart Foundation CH/F/20/90003British Heart Foundation SP/19/2/34462Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Medical Research Council MC_UU_00006/1Medical Research Council MC_UU_00011/6Medical Research Council MC_UU_00014/5Medical Research Council MC_UU_12015/1Medical Research Council MR/S003061/1NHGRI NIH HHS U01 HG004603NHLBI NIH HHS T32 HL129982NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK062370NIDDK NIH HHS R01 DK072193NIDDK NIH HHS R01 DK093757NIGMS NIH HHS T32 GM135123NIGMS NIH HHS T32 GM135128Wellcome Trust 202802Wellcome Trust 202802/Z/16/Z
Abstract
Insulin secretion is critical for glucose homeostasis, and increased levels of the precursor proinsulin relative to insulin indicate pancreatic islet beta-cell stress and insufficient insulin secretory capacity in the setting of insulin resistance. We conducted meta-analyses of genome-wide association results for fasting proinsulin from 16 European-ancestry studies in 45,861 individuals. We found 36 independent signals at 30 loci (p value < 5 × 10
Indexed as
Diabetes Mellitus, Type 2ProinsulinGenome-Wide Association StudyGlucoseHomeodomain ProteinsHumansInsulinTranscription FactorsGlucoseHomeodomain ProteinsInsulinNkx6-3 protein, humanProinsulinTranscription FactorscolocalizationconditionalenhancereQTLfine-mappingGWASmeta-analysisproinsulinsignaltype 2 diabetes
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