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Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

dc.rights.licenseopenen_US
dc.contributor.authorBAKKER, M. K.
dc.contributor.authorVAN DER SPEK, R. A. A.
dc.contributor.authorVAN RHEENEN, W.
dc.contributor.authorMOREL, S.
dc.contributor.authorBOURCIER, R.
dc.contributor.authorHOSTETTLER, I. C.
dc.contributor.authorALG, V. S.
dc.contributor.authorVAN EIJK, K. R.
dc.contributor.authorKOIDO, M.
dc.contributor.authorAKIYAMA, M.
dc.contributor.authorTERAO, C.
dc.contributor.authorMATSUDA, K.
dc.contributor.authorWALTERS, R. G.
dc.contributor.authorLIN, K.
dc.contributor.authorLI, L.
dc.contributor.authorMILLWOOD, I. Y.
dc.contributor.authorCHEN, Z.
dc.contributor.authorROULEAU, G. A.
dc.contributor.authorZHOU, S.
dc.contributor.authorRANNIKMAE, K.
dc.contributor.authorSUDLOW, C. L. M.
dc.contributor.authorHOULDEN, H.
dc.contributor.authorVAN DEN BERG, L. H.
dc.contributor.authorDINA, C.
dc.contributor.authorNAGGARA, O.
dc.contributor.authorGENTRIC, J. C.
dc.contributor.authorSHOTAR, E.
dc.contributor.authorEUGENE, F.
dc.contributor.authorDESAL, H.
dc.contributor.authorWINSVOLD, B. S.
dc.contributor.authorBORTE, S.
dc.contributor.authorJOHNSEN, M. B.
dc.contributor.authorBRUMPTON, B. M.
dc.contributor.authorSANDVEI, M. S.
dc.contributor.authorWILLER, C. J.
dc.contributor.authorHVEEM, K.
dc.contributor.authorZWART, J. A.
dc.contributor.authorVERSCHUREN, W. M. M.
dc.contributor.authorFRIEDRICH, C. M.
dc.contributor.authorHIRSCH, S.
dc.contributor.authorSCHILLING, S.
dc.contributor.authorDAUVILLIER, J.
dc.contributor.authorMARTIN, O.
dc.contributor.authorJONES, G. T.
dc.contributor.authorBOWN, M. J.
dc.contributor.authorKO, N. U.
dc.contributor.authorKIM, H.
dc.contributor.authorCOLEMAN, J. R. I.
dc.contributor.authorBREEN, G.
dc.contributor.authorZAROFF, J. G.
dc.contributor.authorKLIJN, C. J. M.
dc.contributor.authorMALIK, R.
dc.contributor.authorDICHGANS, M.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorSARGURUPREMRAJ, Muralidharan
dc.contributor.authorTATLISUMAK, T.
dc.contributor.authorAMOUYEL, Philippe
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorRINKEL, G. J. E.
dc.contributor.authorWORRALL, B. B.
dc.contributor.authorPERA, J.
dc.contributor.authorSLOWIK, A.
dc.contributor.authorGAAL-PAAVOLA, E. I.
dc.contributor.authorNIEMELA, M.
dc.contributor.authorJAASKELAINEN, J. E.
dc.contributor.authorVON UND ZU FRAUNBERG, M.
dc.contributor.authorLINDGREN, A.
dc.contributor.authorBRODERICK, J. P.
dc.contributor.authorWERRING, D. J.
dc.contributor.authorWOO, D.
dc.contributor.authorREDON, R.
dc.contributor.authorBIJLENGA, P.
dc.contributor.authorKAMATANI, Y.
dc.contributor.authorVELDINK, J. H.
dc.contributor.authorRUIGROK, Y. M.
dc.date.accessioned2021-03-16T14:26:35Z
dc.date.available2021-03-16T14:26:35Z
dc.date.issued2020-12
dc.identifier.issn1546-1718 (Electronic) 1061-4036 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/26692
dc.description.abstractEnRupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.
dc.language.isoENen_US
dc.title.enGenome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
dc.title.alternativeNat Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41588-020-00725-7en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed33199917en_US
bordeaux.journalNature Geneticsen_US
bordeaux.page1303-1313en_US
bordeaux.volume52en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue12en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03170924
hal.version1
hal.date.transferred2021-03-16T14:26:44Z
hal.exporttrue
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