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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

dc.rights.licenseopenen_US
dc.contributor.authorIGLESIAS, A. I.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorMISHRA, Aniket
dc.contributor.authorVITART, V.
dc.contributor.authorBYKHOVSKAYA, Y.
dc.contributor.authorHOHN, R.
dc.contributor.authorSPRINGELKAMP, H.
dc.contributor.authorCUELLAR-PARTIDA, G.
dc.contributor.authorGHARAHKHANI, P.
dc.contributor.authorBAILEY, J. N. C.
dc.contributor.authorWILLOUGHBY, C. E.
dc.contributor.authorLI, X.
dc.contributor.authorYAZAR, S.
dc.contributor.authorNAG, A.
dc.contributor.authorKHAWAJA, A. P.
dc.contributor.authorPOLASEK, O.
dc.contributor.authorSISCOVICK, D.
dc.contributor.authorMITCHELL, P.
dc.contributor.authorTHAM, Y. C.
dc.contributor.authorHAINES, J. L.
dc.contributor.authorKEARNS, L. S.
dc.contributor.authorHAYWARD, C.
dc.contributor.authorSHI, Y.
dc.contributor.authorVAN LEEUWEN, E. M.
dc.contributor.authorTAYLOR, K. D.
dc.contributor.authorBONNEMAIJER, P.
dc.contributor.authorROTTER, J. I.
dc.contributor.authorMARTIN, N. G.
dc.contributor.authorZELLER, T.
dc.contributor.authorMILLS, R. A.
dc.contributor.authorSTAFFIERI, S. E.
dc.contributor.authorJONAS, J. B.
dc.contributor.authorSCHMIDTMANN, I.
dc.contributor.authorBOUTIN, T.
dc.contributor.authorKANG, J. H.
dc.contributor.authorLUCAS, S. E. M.
dc.contributor.authorWONG, T. Y.
dc.contributor.authorBEUTEL, M. E.
dc.contributor.authorWILSON, J. F.
dc.contributor.authorUITTERLINDEN, A. G.
dc.contributor.authorVITHANA, E. N.
dc.contributor.authorFOSTER, P. J.
dc.contributor.authorHYSI, P. G.
dc.contributor.authorHEWITT, A. W.
dc.contributor.authorKHOR, C. C.
dc.contributor.authorPASQUALE, L. R.
dc.contributor.authorMONTGOMERY, G. W.
dc.contributor.authorKLAVER, C. C. W.
dc.contributor.authorAUNG, T.
dc.contributor.authorPFEIFFER, N.
dc.contributor.authorMACKEY, D. A.
dc.contributor.authorHAMMOND, C. J.
dc.contributor.authorCHENG, C. Y.
dc.contributor.authorCRAIG, J. E.
dc.contributor.authorRABINOWITZ, Y. S.
dc.contributor.authorWIGGS, J. L.
dc.contributor.authorBURDON, K. P.
dc.contributor.authorVAN DUIJN, C. M.
dc.contributor.authorMACGREGOR, S.
dc.date.accessioned2020-11-17T10:45:37Z
dc.date.available2020-11-17T10:45:37Z
dc.date.issued2018-05-14
dc.identifier.issn2041-1723 (Electronic) 2041-1723 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/14062
dc.description.abstractEnCentral corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 x 10(-5)) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enVINTAGE
dc.title.enCross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
dc.title.alternativeNat Communen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41467-018-03646-6en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed29760442en_US
bordeaux.journalNature Communicationsen_US
bordeaux.page1864en_US
bordeaux.volume9en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03165485
hal.version1
hal.date.transferred2021-03-10T15:33:26Z
hal.exporttrue
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