ArticleJournal of the American Society of Nephrology : JASN2021
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (
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Article in Journal of the American Society of Nephrology : JASN, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 15 citations in OpenAlex.
- Exome-Wide Analysis Identifies a RareKidney international reports · 2026Article
- Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease.Diabetologia · 2024Article
- DNA methyltransferase 1 (DNMT1) promotes cyst growth and epigenetic age acceleration in autosomal dominant polycystic kidney disease.Kidney international · 2024Article
- Integrated analysis of blood DNA methylation, genetic variants, circulating proteins, microRNAs, and kidney failure in type 1 diabetes.Science translational medicine · 2024Article
- Protective Factors and the Pathogenesis of Complications in Diabetes.Endocrine reviews · 2024Review
- Genetic and epigenetic background of diabetic kidney disease.Frontiers in endocrinology · 2023Review
- Redox Genetic Risk Score and the Incidence of End-Stage Kidney Disease in People with Type 1 Diabetes.Cells · 2022Article
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Authors and funding
36 authors at 12 institutions in 6 countries.
Josyf C MychaleckyjCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.ORCID 0000-0003-2595-0005
Erkka ValoFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.ORCID 0000-0003-0672-554
Takaharu IchimuraRenal Division, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Tarunveer S AhluwaliaSteno Diabetes Center Copenhagen, Copenhagen, Denmark.ORCID 0000-0002-7464-3354
Christian DinaUniversité de Nantes, CNRS INSERM, L'institut du thorax, Nantes, France.
Rachel G MillerDepartment of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Ivan G ShabalinDepartment of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia.
Beata GyorgyINSERM UMRS1166, Institute of CardioMetabolism and Nutrition, Sorbonne Université, Paris, France.
JingJing CaoGenetics & Genome Biology Research Institute, SickKids Hospital, Toronto, Ontario, Canada.
Suna Onengut-GumuscuCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
Eiichiro SatakeResearch Division, Joslin Diabetes Center, Boston, Massachusetts.ORCID 0000-0002-9784-4423
Adam M SmilesResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Jani K HaukkaFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
David-Alexandre TregouetINSERM UMRS1166, Institute of CardioMetabolism and Nutrition, Sorbonne Université, Paris, France.
Tina CostacouDepartment of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania.ORCID 0000-0001-9303-3810
Kristina O'NeilResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Andrew D PatersonGenetics & Genome Biology Research Institute, SickKids Hospital, Toronto, Ontario, Canada.ORCID 0000-0002-9169-118
Carol ForsblomFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Hillary A KeenanResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Marcus G PezzolesiResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Marlon PragnellJDRF International, New York, New York.
Andrzej GaleckiDepartment of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.ORCID 0000-0003-3872-7793
Niina SandholmFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.ORCID 0000-0003-4322-6942
Ronald KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Barbara E KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Katalin SusztakDepartment of Medicine and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0002-1005-3726
Trevor J OrchardDepartment of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Ron KorstanjeThe Jackson Laboratory, Bar Harbor, Maine.ORCID 0000-0002-2808-1610
George L KingResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Samy HadjadjINSERM CIC 1402 and U 1082, Poitiers, France.
Peter RossingSteno Diabetes Center Copenhagen, Copenhagen, Denmark.
Joseph V BonventreRenal Division, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Per-Henrik GroopFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
James H WarramResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Andrzej S KrolewskiResearch Division, Joslin Diabetes Center, Boston, Massachusetts.
Joslin Diabetes Center · USUniversity of Helsinki · FIUniversity of Pittsburgh · USUniversity of Virginia · USBrigham and Women's Hospital · USCentre National de la Recherche Scientifique · FRHospital for Sick Children · CASteno Diabetes Centers · DKInserm · FRJackson Laboratory · USUniversity of Copenhagen · DKUniversity of Michigan · US
Funding
SPECIAL ASSAY COREP30DK036836 · NIDDK · JOSLIN DIABETES CENTER · PI ROHIT N. KULKARNI · 1986 to 2026
$50.5MResearch Education CoreP30AG024824 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Neil Alexander · 2004 to 2026
$29.2MKIDNEY INJURY MOLECULE-1 IN EPITHELIAL REPAIRR01DK072381 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI BONVENTRE, JOSEPH VINCENT · 2005 to 2025
$8.6MRole of the Notch Pathway in Kidney InjuryR01DK076077 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2007 to 2026
$8.0MTumor necrosis factor superfamily of ligands and receptors in progressive renal decline in diabetesR01DK041526 · NIDDK · JOSLIN DIABETES CENTER · PI KROLEWSKI, ANDRZEJ S · 1990 to 2018
$7.8MEpidemiology 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
$7.0MEpigenetics of Chronic Kidney DiseaseR01DK087635 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2009 to 2026
$7.0MEpidemiology of Diabetes Complications (EDC) Phase II: renewalR37DK034818 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ORCHARD, TREVOR J. · 2009 to 2018
$6.5MWeight gain trajectory and life spanP60AG008808 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HALTER, JEFFREY B. · 1994 to 2003
$5.9MEPIDEMIOLOGY OF DIABETIC COMPLICATIONS--PHASE IIR01DK034818 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI COSTACOU, TINA · 1986 to 2019
$5.6MMechanisms of Ischemic Kidney Injury and RepairR37DK039773 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI BONVENTRE, JOSEPH VINCENT · 1993 to 2021
$5.2MAPOL1 associated kidney diseaseR01DK105821 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2016 to 2024
$4.6MNCATS NIH HHS UG3 TR002155NEI NIH HHS R01 EY016379NIA NIH HHS P30 AG024824NIA NIH HHS P60 AG008808NIDDK NIH HHS DP3 DK108220NIDDK NIH HHS P30 DK036836NIDDK NIH HHS R01 DK034818NIDDK NIH HHS R01 DK041526NIDDK NIH HHS R01 DK072381NIDDK NIH HHS R01 DK076077NIDDK NIH HHS R01 DK087635NIDDK NIH HHS R01 DK105821NIDDK NIH HHS R37 DK034818NIDDK NIH HHS R37 DK039773
Abstract
backgroundRare variants in gene coding regions likely have a greater impact on disease-related phenotypes than common variants through disruption of their encoded protein. We searched for rare variants associated with onset of ESKD in individuals with type 1 diabetes at advanced kidney disease stage.
methodsGene-based exome array analyses of 15,449 genes in five large incidence cohorts of individuals with type 1 diabetes and proteinuria were analyzed for survival time to ESKD, testing the top gene in a sixth cohort (
resultsProtein coding variants in the hydroxysteroid 17-
conclusions
Indexed as
17-Hydroxysteroid DehydrogenasesAdultAnimalsCase-Control StudiesDiabetes Mellitus, Type 1Diabetic NephropathiesDisease ProgressionExomeFemaleGene ExpressionGenetic VariationHumansKidney Failure, ChronicKidney Tubules, ProximalMaleMice17-Hydroxysteroid DehydrogenasesHSD17B14 protein, humandiabetic kidney diseasediabetic nephropathyend stage kidney diseasegene-based testshydroxysteroid 17-beta dehydrogenase 14rare variantstype 1 diabetes
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