ArticleJournal of the American Society of Nephrology : JASN2019
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.
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Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 7 of them syntheses that pooled it.
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138citing papers in PubMed, 7 pooled it
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Who cites it
138 citing papers in PubMed, 7 syntheses or guidelines pooled it, 211 citations in OpenAlex.
- The Role ofGenes · 2025Pooled it
- Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.Nature communications · 2025Pooled it
- Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.Nature communications · 2022Pooled it
- Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.Diabetologia · 2022Pooled it
- Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Communications biology · 2022Pooled it
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.Kidney international · 2021Pooled it
- Response to the Letter to the Editor Entitled "A Missing Genomic Dimension: The Small but Central Mitochondrial Genome in Diabetic Kidney Disease Genetics".Kidney international reports · 2026Article
- Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias.American journal of human genetics · 2026Article
- Genetic Determinants of Microvascular Complications of Type 1 Diabetes Mellitus: New Data from a Replication Study.Biomedicines · 2026Article
- Blood DNA methylation markers are associated with diabetic kidney disease progression in type 1 diabetes.Diabetologia · 2026Article
- Plasma biomarkers of neurodegeneration and intraindividual cognitive variability: Comparing variability across test at one time point and using repeated ecological momentary assessment.Neuropsychology · 2026Article
- Gene modification: Exploring the potential in treating kidney diseases.Pharmacological research · 2026Review
- Spatial metabolomics and multiomics integration for breakthroughs in precision medicine for kidney disease.Nature reviews. Nephrology · 2026Review
- Urinary biomarkers of diabetic kidney disease.World journal of diabetes · 2026Review
- Exome-Wide Analysis Identifies a RareKidney international reports · 2026Article
- From mechanisms to therapies: exploiting epigenetic and post-translational modifications of mitochondrial quality control in diabetic kidney disease.Frontiers in endocrinology · 2026Review
- Identification of novel genomic variants in diabetic nephropathy patients using whole-exome sequencing: a pilot investigation.Frontiers in endocrinology · 2026Article
- Genome-Wide Association Studies of Diabetic Kidney Disease in East Asians With Type 2 Diabetes: Achievements and Future Perspectives.Current medicinal chemistry · 2026Review
- Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy.Genome medicine · 2025Article
78 more citing papers are in PubMed but not listed here.
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Authors and funding
89 authors at 20 institutions in 17 countries.
Rany M SalemDepartment of Family Medicine and Public Health, University of California San Diego, La Jolla, California.ORCID 0000-0001-8816-6862
Jennifer N ToddDivision of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
Niina SandholmFolkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.ORCID 0000-0003-4322-6942
Joanne B ColeDivision of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.ORCID 0000-0001-9520-2788
Wei-Min ChenCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia.
Darrell AndrewsDiabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Marcus G PezzolesiDivision of Nephrology and Hypertension, Diabetes and Metabolism Center, University of Utah, Salt Lake City, Utah.
Paul M McKeigueUsher Institute of Population Health Sciences and Informatics and.
Linda T HirakiThe Hospital for Sick Children, Toronto, Ontario, Canada.
Chengxiang QiuDepartments of Medicine and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
Viji NairDivision of Nephrology, Department of Internal Medicine and.
Chen Di LiaoThe Hospital for Sick Children, Toronto, Ontario, Canada.
Jing Jing CaoThe Hospital for Sick Children, Toronto, Ontario, Canada.
Erkka ValoFolkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.ORCID 0000-0003-0672-554X
Suna Onengut-GumuscuCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia.
Adam M SmilesJoslin Diabetes Center, Boston, Massachusetts.
Stuart J McGurnaghanInstitute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Jani K HaukkaFolkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.
Valma HarjutsaloFolkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.
Eoin P BrennanDiabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Natalie van ZuydamWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Emma AhlqvistDepartment of Genomics, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Ross DoyleDiabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Tarunveer S AhluwaliaSteno Diabetes Center Copenhagen, Gentofte, Denmark.ORCID 0000-0002-7464-3354
Maria LajerSteno Diabetes Center Copenhagen, Gentofte, Denmark.
Maria F HughesDiabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Jihwan ParkDepartments of Medicine and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
Jan SkupienJoslin Diabetes Center, Boston, Massachusetts.
Athina SpiliopoulouUsher Institute of Population Health Sciences and Informatics and.
Andrew LiuDepartment of Biostatistics and.
Rajasree MenonDivision of Nephrology, Department of Internal Medicine and.
Carine M Boustany-KariCardiometabolic Diseases Research, Boehringer Ingelheim, Ridgefield, Connecticut.
Hyun M KangDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan.
Robert G NelsonChronic Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona.
Ronald KleinUniversity of Wisconsin-Madison, Madison, Wisconsin.
Barbara E KleinUniversity of Wisconsin-Madison, Madison, Wisconsin.
Kristine E LeeUniversity of Wisconsin-Madison, Madison, Wisconsin.ORCID 0000-0002-9102-4627
Xiaoyu GaoThe George Washington University, Washington, DC.
Michael MauerUniversity of Minnesota, Minneapolis, Minnesota.
Silvia MaestroniComplications of Diabetes Unit, Division of Immunology, Transplantation and Infectious Diseases, Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milano, Italy.
Maria Luiza CaramoriUniversity of Minnesota, Minneapolis, Minnesota.
Ian H de BoerUniversity of Washington, Seattle, Washington.ORCID 0000-0003-1571-7592
Rachel G MillerUniversity of Pittsburgh Public Health, Pittsburgh, Pennsylvania.
Jingchuan GuoUniversity of Pittsburgh Public Health, Pittsburgh, Pennsylvania.ORCID 0000-0001-9799-2592
Andrew P BorightThe Hospital for Sick Children, Toronto, Ontario, Canada.
David TregouetINSERM UMR_S 1166, Sorbonne Université, UPMC Univ Paris 06, Paris, France.
Beata GyorgyINSERM UMR_S 1166, Sorbonne Université, UPMC Univ Paris 06, Paris, France.
Janet K Snell-BergeonUniversity of Colorado School of Medicine, Aurora, Colorado.
David M MaahsDepartment of Pediatrics-Endocrinology, Stanford University, Stanford, California.
Shelley B BullThe Lunenfeld-Tanenbaum Research Institute, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-3280-7154
Angelo J CantyDepartment of Mathematics and Statistics, McMaster University, Hamilton, Ontario, Canada.
Colin N A PalmerPat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.
Lars StechemesserFirst Department of Medicine, Paracelsus Medical University, Salzburg, Austria.
Bernhard PaulweberFirst Department of Medicine, Paracelsus Medical University, Salzburg, Austria.
Raimund WeitgasserFirst Department of Medicine, Paracelsus Medical University, Salzburg, Austria.
Jelizaveta SokolovskaUniversity of Latvia, Riga, Latvia.
Vita RovīteLatvian Biomedical Research and Study Centre, Riga, Latvia.
Valdis PīrāgsUniversity of Latvia, Riga, Latvia.
Edita PrakapieneMedical Academy and.
Lina RadzevicieneInstitute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Rasa VerkauskieneInstitute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Nicolae Mircea PanduruAbdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Leif C GroopDepartment of Genomics, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Mark I McCarthyWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Harvest F GuDepartment of Clinical Science, Intervention and Technology and.
Anna MöllstenDivision of Pediatrics, Department of Clinical Sciences, Umeå University, Umeå, Sweden.
Henrik FalhammarDepartment of Molecular Medicine and Surgery, Rolf Luft Center for Diabetes Research and Endocrinology, Karolinska Institutet, Stockholm, Sweden.
Kerstin BrismarDepartment of Molecular Medicine and Surgery, Rolf Luft Center for Diabetes Research and Endocrinology, Karolinska Institutet, Stockholm, Sweden.
Finian MartinDiabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Peter RossingSteno Diabetes Center Copenhagen, Gentofte, Denmark.
Tina CostacouUniversity of Pittsburgh Public Health, Pittsburgh, Pennsylvania.ORCID 0000-0001-9303-3810
Gianpaolo ZerbiniComplications of Diabetes Unit, Division of Immunology, Transplantation and Infectious Diseases, Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milano, Italy.
Michel MarreDepartment of Diabetology, Endocrinology and Nutrition, Bichat Hospital, DHU FIRE, Assistance Publique-Hôpitaux de Paris, Paris, France.
Samy HadjadjDepartment of Endocrinology and Diabetology, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.
Amy J McKnightCentre for Public Health, Queens University of Belfast, Northern Ireland, UK.
Carol ForsblomFolkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.
Gareth McKayCentre for Public Health, Queens University of Belfast, Northern Ireland, UK.
Catherine GodsonDiabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
A Peter MaxwellCentre for Public Health, Queens University of Belfast, Northern Ireland, UK.ORCID 0000-0002-6110-7253
Matthias KretzlerDivision of Nephrology, Department of Internal Medicine and.
Katalin SusztakDepartments of Medicine and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0002-1005-3726
Helen M ColhounInstitute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Andrzej KrolewskiJoslin Diabetes Center, Boston, Massachusetts.
Andrew D PatersonThe Hospital for Sick Children, Toronto, Ontario, Canada.
Per-Henrik GroopFolkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.
Stephen S RichCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia.
Joel N HirschhornDivision of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
Jose C FlorezPrograms in Metabolism and Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts; jcflorez@mgh.harvard.edu.
SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium
University of Helsinki · FIUniversity College Dublin · IEHospital for Sick Children · CAUniversity of Michigan · USBroad Institute · USUniversity of Wisconsin–Madison · USInserm · FRJoslin Diabetes Center · USParacelsus Medical University · ATQueen's University Belfast · GBUniversity of Pennsylvania · USUniversity of Pittsburgh · USUniversity of Virginia · USCentre for Human Genetics · GBInstitute of Genetics and Cancer · GBInstitute of Population and Public Health · CAKarolinska University Hospital · SELithuanian University of Health Sciences · LTSteno Diabetes Centers · DKUniversity of Minnesota · US
Funding
Limited Competition for the Continuation of Epidemiology of Diabetes Interventions and Complications (EDIC) Study Clinical Research Center (Collaborative U01)U01DK094157 · NIDDK · CASE WESTERN RESERVE UNIVERSITY · PI Ionut Bebu, Barbara Halina Braffett · 2011 to 2026
$97.6MSPECIAL ASSAY COREP30DK036836 · NIDDK · JOSLIN DIABETES CENTER · PI ROHIT N. KULKARNI · 1986 to 2026
$50.5MVector and Transgenic Mouse CoreP30DK017047 · NIDDK · UNIVERSITY OF WASHINGTON · PI Sakeneh Zraika · 1986 to 2026
$41.4MEpidemiology of Diabetes Interventions and Complications Data Coordinating CenterU01DK094176 · NIDDK · GEORGE WASHINGTON UNIVERSITY · PI BEBU, IONUT, BRAFFETT, BARBARA HALINA · 2012 to 2022
$30.8MUniversity of Michigan O'Brien Kidney Translational Core CenterP30DK081943 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BROSIUS, FRANK C · 2008 to 2022
$12.9MEpidemiology of Retinopathy and other Complications in Long Term Type 1 DiabetesR01EY016379 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI KLEIN, BARBARA EDEN, KLEIN, RONALD · 2005 to 2016
$7.0MEpidemiology of Diabetes Complications (EDC) Phase II: renewalR37DK034818 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ORCHARD, TREVOR J. · 2009 to 2018
$6.5MCAREER DEVELOPMENT IN DIABETES RESEARCH FOR PEDIATRIC ENDOCRINOLOGISTSK12DK094721 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI LAFFEL, LORI M, WHITE, MORRIS F. · 2011 to 2021
$6.3MEPIDEMIOLOGY OF DIABETIC COMPLICATIONS--PHASE IIR01DK034818 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI COSTACOU, TINA · 1986 to 2019
$5.6MIntegrative genomic, epigenetic and functional studies in diabetic kidney diseaseR01DK105154 · NIDDK · BROAD INSTITUTE, INC. · PI FLOREZ, JOSE CARLOS, HIRSCHHORN, JOEL N · 2016 to 2019
$3.0MMethods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3MGenome-Wide Association Studies of Diabetic NephropathyR01DK081923 · NIDDK · BROAD INSTITUTE, INC. · PI HIRSCHHORN, JOEL N · 2009 to 2012
$2.3MMedical Research Council MC_PC_15025NEI NIH HHS R01 EY016379NHLBI NIH HHS R00 HL122515NIDDK NIH HHS K12 DK094721NIDDK NIH HHS K24 DK110550NIDDK NIH HHS P30 DK017047NIDDK NIH HHS P30 DK036836NIDDK NIH HHS P30 DK081943NIDDK NIH HHS R01 DK034818NIDDK NIH HHS R01 DK081923NIDDK NIH HHS R01 DK105154NIDDK NIH HHS R37 DK034818NIDDK NIH HHS T32 DK110919NIDDK NIH HHS U01 DK094157NIDDK NIH HHS U01 DK094176NIMH NIH HHS R01 MH101814Wellcome Trust 090532Wellcome Trust 098381
Abstract
backgroundAlthough diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown.
methodsTo identify genetic variants predisposing to diabetic kidney disease, we performed genome-wide association study (GWAS) analyses. Through collaboration with the Diabetes Nephropathy Collaborative Research Initiative, we assembled a large collection of type 1 diabetes cohorts with harmonized diabetic kidney disease phenotypes. We used a spectrum of ten diabetic kidney disease definitions based on albuminuria and renal function.
resultsOur GWAS meta-analysis included association results for up to 19,406 individuals of European descent with type 1 diabetes. We identified 16 genome-wide significant risk loci. The variant with the strongest association (rs55703767) is a common missense mutation in the collagen type IV alpha 3 chain (
conclusionsThe 16 diabetic kidney disease-associated loci may provide novel insights into the pathogenesis of this condition and help identify potential biologic targets for prevention and treatment.
Indexed as
Genome-Wide Association StudyGlomerular Basement MembraneMutationAutoantigensCohort StudiesCollagen Type IVDiabetes Mellitus, Type 1Diabetic NephropathiesFemaleHumansMaleAutoantigensCollagen Type IVtype IV collagen alpha3 chaindiabetesdiabetic nephropathyend-stage renal diseasegenetic renal diseasehuman geneticskidney disease
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