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Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

dc.rights.licenseopenen_US
dc.contributor.authorSALEM, R. M.
dc.contributor.authorTODD, J. N.
dc.contributor.authorSANDHOLM, N.
dc.contributor.authorCOLE, J. B.
dc.contributor.authorCHEN, W. M.
dc.contributor.authorANDREWS, D.
dc.contributor.authorPEZZOLESI, M. G.
dc.contributor.authorMCKEIGUE, P. M.
dc.contributor.authorHIRAKI, L. T.
dc.contributor.authorQIU, C.
dc.contributor.authorNAIR, V.
dc.contributor.authorDI LIAO, C.
dc.contributor.authorCAO, J. J.
dc.contributor.authorVALO, E.
dc.contributor.authorONENGUT-GUMUSCU, S.
dc.contributor.authorSMILES, A. M.
dc.contributor.authorMCGURNAGHAN, S. J.
dc.contributor.authorHAUKKA, J. K.
dc.contributor.authorHARJUTSALO, V.
dc.contributor.authorBRENNAN, E. P.
dc.contributor.authorVAN ZUYDAM, N.
dc.contributor.authorAHLQVIST, E.
dc.contributor.authorDOYLE, R.
dc.contributor.authorAHLUWALIA, T. S.
dc.contributor.authorLAJER, M.
dc.contributor.authorHUGHES, M. F.
dc.contributor.authorPARK, J.
dc.contributor.authorSKUPIEN, J.
dc.contributor.authorSPILIOPOULOU, A.
dc.contributor.authorLIU, A.
dc.contributor.authorMENON, R.
dc.contributor.authorBOUSTANY-KARI, C. M.
dc.contributor.authorKANG, H. M.
dc.contributor.authorNELSON, R. G.
dc.contributor.authorKLEIN, R.
dc.contributor.authorKLEIN, B. E.
dc.contributor.authorLEE, K. E.
dc.contributor.authorGAO, X.
dc.contributor.authorMAUER, M.
dc.contributor.authorMAESTRONI, S.
dc.contributor.authorCARAMORI, M. L.
dc.contributor.authorDE BOER, I. H.
dc.contributor.authorMILLER, R. G.
dc.contributor.authorGUO, J.
dc.contributor.authorBORIGHT, A. P.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorGYORGY, B.
dc.contributor.authorSNELL-BERGEON, J. K.
dc.contributor.authorMAAHS, D. M.
dc.contributor.authorBULL, S. B.
dc.contributor.authorCANTY, A. J.
dc.contributor.authorPALMER, C. N. A.
dc.contributor.authorSTECHEMESSER, L.
dc.contributor.authorPAULWEBER, B.
dc.contributor.authorWEITGASSER, R.
dc.contributor.authorSOKOLOVSKA, J.
dc.contributor.authorROVITE, V.
dc.contributor.authorPIRAGS, V.
dc.contributor.authorPRAKAPIENE, E.
dc.contributor.authorRADZEVICIENE, L.
dc.contributor.authorVERKAUSKIENE, R.
dc.contributor.authorPANDURU, N. M.
dc.contributor.authorGROOP, L. C.
dc.contributor.authorMCCARTHY, M. I.
dc.contributor.authorGU, H. F.
dc.contributor.authorMOLLSTEN, A.
dc.contributor.authorFALHAMMAR, H.
dc.contributor.authorBRISMAR, K.
dc.contributor.authorMARTIN, F.
dc.contributor.authorROSSING, P.
dc.contributor.authorCOSTACOU, T.
dc.contributor.authorZERBINI, G.
dc.contributor.authorMARRE, M.
dc.contributor.authorHADJADJ, S.
dc.contributor.authorMCKNIGHT, A. J.
dc.contributor.authorFORSBLOM, C.
dc.contributor.authorMCKAY, G.
dc.contributor.authorGODSON, C.
dc.contributor.authorMAXWELL, A. P.
dc.contributor.authorKRETZLER, M.
dc.contributor.authorSUSZTAK, K.
dc.contributor.authorCOLHOUN, H. M.
dc.contributor.authorKROLEWSKI, A.
dc.contributor.authorPATERSON, A. D.
dc.contributor.authorGROOP, P. H.
dc.contributor.authorRICH, S. S.
dc.contributor.authorHIRSCHHORN, J. N.
dc.contributor.authorFLOREZ, J. C.
dc.date.accessioned2020-07-13T10:14:20Z
dc.date.available2020-07-13T10:14:20Z
dc.date.issued2019-10
dc.identifier.issn1046-6673en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/10427
dc.description.abstractEnBACKGROUND: Although diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown. METHODS: To 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. RESULTS: Our 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 (COL4A3) gene, which encodes a major structural component of the glomerular basement membrane (GBM). Mutations in COL4A3 are implicated in heritable nephropathies, including the progressive inherited nephropathy Alport syndrome. The rs55703767 minor allele (Asp326Tyr) is protective against several definitions of diabetic kidney disease, including albuminuria and ESKD, and demonstrated a significant association with GBM width; protective allele carriers had thinner GBM before any signs of kidney disease, and its effect was dependent on glycemia. Three other loci are in or near genes with known or suggestive involvement in this condition (BMP7) or renal biology (COLEC11 and DDR1). CONCLUSIONS: The 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.
dc.language.isoENen_US
dc.subject.enVINTAGE
dc.title.enGenome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
dc.title.alternativeJ Am Soc Nephrolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1681/asn.2019030218en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed31537649en_US
bordeaux.journalJournal of the American Society of Nephrologyen_US
bordeaux.page2000-2016en_US
bordeaux.volume30en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-02898065
hal.version1
hal.date.transferred2020-07-13T10:14:36Z
hal.exporttrue
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