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dc.contributor.authorStrunz, Tobias
dc.contributor.authorLauwen, Susette
dc.contributor.authorKiel, Christina
dc.contributor.authorHollander, Anneke den
dc.contributor.authorFritsche, Lars G.
dc.contributor.authorIgl, Wilmar
dc.contributor.authorBailey, Jessica N. Cooke
dc.contributor.authorGrassmann, Felix
dc.contributor.authorSengupta, Sebanti
dc.contributor.authorBragg-Gresham, Jennifer L.
dc.contributor.authorBurdon, Kathryn P.
dc.contributor.authorHebbring, Scott J.
dc.contributor.authorWen, Cindy
dc.contributor.authorGorski, Mathias
dc.contributor.authorKim, Ivana K.
dc.contributor.authorCho, David
dc.contributor.authorZack, Donald
dc.contributor.authorSouied, Eric
dc.contributor.authorScholl, Hendrik P. N.
dc.contributor.authorBala, Elisa
dc.contributor.authorLee, Kristine E.
dc.contributor.authorHunter, David J.
dc.contributor.authorSardell, Rebecca J.
dc.contributor.authorMitchell, Paul
dc.contributor.authorMerriam, Joanna E.
dc.contributor.authorCipriani, Valentina
dc.contributor.authorHoffman, Joshua D.
dc.contributor.authorSchick, Tina
dc.contributor.authorLechanteur, Yara T. E.
dc.contributor.authorGuymer, Robyn H.
dc.contributor.authorJohnson, Matthew P.
dc.contributor.authorJiang, Yingda
dc.contributor.authorStanton, Chloe M.
dc.contributor.authorBuitendijk, Gabriëlle H. S.
dc.contributor.authorZhan, Xiaowei
dc.contributor.authorKwong, Alan M.
dc.contributor.authorBoleda, Alexis
dc.contributor.authorBrooks, Matthew
dc.contributor.authorGieser, Linn
dc.contributor.authorRatnapriya, Rinki
dc.contributor.authorBranham, Kari E.
dc.contributor.authorFoerster, Johanna R.
dc.contributor.authorHeckenlively, John R.
dc.contributor.authorOthman, Mohammad I.
dc.contributor.authorVote, Brendan J.
dc.contributor.authorLiang, Helena Hai
dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorMcAllister, Ian L.
dc.contributor.authorIsaacs, Timothy
dc.contributor.authorHall, Janette
dc.contributor.authorLake, Stewart
dc.contributor.authorMackey, David A.
dc.contributor.authorConstable, Ian J.
dc.contributor.authorCraig, Jamie E.
dc.contributor.authorKitchner, Terrie E.
dc.contributor.authorYang, Zhenglin
dc.contributor.authorSu, Zhiguang
dc.contributor.authorLuo, Hongrong
dc.contributor.authorChen, Daniel
dc.contributor.authorOuyang, Hong
dc.contributor.authorFlagg, Ken
dc.contributor.authorLin, Danni
dc.contributor.authorMao, Guanping
dc.contributor.authorFerreyra, Henry
dc.contributor.authorStark, Klaus
dc.contributor.authorStrachwitz, Claudia N. von
dc.contributor.authorWolf, Armin
dc.contributor.authorBrandl, Caroline
dc.contributor.authorRudolph, Guenther
dc.contributor.authorOlden, Matthias
dc.contributor.authorMorrison, Margaux A.
dc.contributor.authorMorgan, Denise J.
dc.contributor.authorSchu, Matthew
dc.contributor.authorAhn, Jeeyun
dc.contributor.authorSilvestri, Giuliana
dc.contributor.authorTsironi, Evangelia E.
dc.contributor.authorPark, Kyu Hyung
dc.contributor.authorFarrer, Lindsay A.
dc.contributor.authorOrlin, Anton
dc.contributor.authorBrucker, Alexander
dc.contributor.authorLi, Mingyao
dc.contributor.authorCurcio, Christine
dc.contributor.authorMohand-Saïd, Saddek
dc.contributor.authorSahel, José-Alain
dc.contributor.authorAudo, Isabelle
dc.contributor.authorBenchaboune, Mustapha
dc.contributor.authorCree, Angela J.
dc.contributor.authorRennie, Christina A.
dc.contributor.authorGoverdhan, Srinivas V.
dc.contributor.authorGrunin, Michelle
dc.contributor.authorHagbi-Levi, Shira
dc.contributor.authorCampochiaro, Peter
dc.contributor.authorKatsanis, Nicholas
dc.contributor.authorHolz, Frank G.
dc.contributor.authorBlond, Frédéric
dc.contributor.authorBlanché, Hélène
dc.contributor.authorDeleuze, Jean-François
dc.contributor.authorIgo, Robert P., Jr.
dc.contributor.authorTruitt, Barbara
dc.contributor.authorPeachey, Neal S.
dc.contributor.authorMeuer, Stacy M.
dc.contributor.authorMyers, Chelsea E.
dc.contributor.authorMoore, Emily L.
dc.contributor.authorKlein, Ronald
dc.contributor.authorHauser, Michael A.
dc.contributor.authorPostel, Eric A.
dc.contributor.authorCourtenay, Monique D.
dc.contributor.authorSchwartz, Stephen G.
dc.contributor.authorKovach, Jaclyn L.
dc.contributor.authorScott, William K.
dc.contributor.authorLiew, Gerald
dc.contributor.authorTfan, Ava G.
dc.contributor.authorGopinath, Bamini
dc.contributor.authorMerriam, John C.
dc.contributor.authorSmith, R. Theodore
dc.contributor.authorKhan, Jane C.
dc.contributor.authorShahid, Humma
dc.contributor.authorMoore, Anthony T.
dc.contributor.authorMcGrath, J. Allie
dc.contributor.authorLaux, Reneé
dc.contributor.authorBrantley, Milam A., Jr.
dc.contributor.authorAgarwal, Anita
dc.contributor.authorErsoy, Lebriz
dc.contributor.authorCaramoy, Albert
dc.contributor.authorLangmann, Thomas
dc.contributor.authorSaksens, Nicole T. M.
dc.contributor.authorJong, Eiko K. de
dc.contributor.authorHoyng, Carel B.
dc.contributor.authorCain, Melinda S.
dc.contributor.authorRichardson, Andrea J.
dc.contributor.authorMartin, Tammy M.
dc.contributor.authorBlangero, John
dc.contributor.authorWeeks, Daniel E.
dc.contributor.authorDhillon, Bal
dc.contributor.authorDuijn, Cornelia M. van
dc.contributor.authorDoheny, Kimberly F.
dc.contributor.authorRomm, Jane
dc.contributor.authorKlaver, Caroline C. W.
dc.contributor.authorHayward, Caroline
dc.contributor.authorGorin, Michael B.
dc.contributor.authorKlein, Michael L.
dc.contributor.authorBaird, Paul N.
dc.contributor.authorHollander, Anneke I. den
dc.contributor.authorFauser, Sascha
dc.contributor.authorYates, John R. W.
dc.contributor.authorAllikmets, Rando
dc.contributor.authorWang, Jie Jin
dc.contributor.authorSchaumberg, Debra A.
dc.contributor.authorKlein, Barbara E. K.
dc.contributor.authorHagstrom, Stephanie A.
dc.contributor.authorChowers, Itay
dc.contributor.authorLotery, Andrew J.
dc.contributor.authorLéveillard, Thierry
dc.contributor.authorZhang, Kang
dc.contributor.authorBrilliant, Murray H.
dc.contributor.authorHewitt, Alex W.
dc.contributor.authorSwaroop, Anand
dc.contributor.authorChew, Emily Y.
dc.contributor.authorPericak-Vance, Margaret A.
dc.contributor.authorDeAngelis, Margaret
dc.contributor.authorStambolian, Dwight
dc.contributor.authorHaines, Jonathan L.
dc.contributor.authorIyengar, Sudha K.
dc.contributor.authorWeber, Bernhard H. F.
dc.contributor.authorAbecasis, Gonçalo R.
dc.contributor.authorHeid, Iris M.
dc.date.accessioned2021-01-30T16:12:44Z
dc.date.available2021-01-30T16:12:44Z
dc.date.issued2020-01-31
dc.date.submitted2019-11-01
dc.identifier.others41598-020-58510-9
dc.identifier.other58510
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/316913
dc.description.abstractAbstract: Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional variants implicating a defined gene in the disease process. We now performed a transcriptome-wide association study (TWAS) allowing the prediction of effects of AMD-associated genetic variants on gene expression. The TWAS was based on the genotypes of 16,144 late-stage AMD cases and 17,832 healthy controls, and gene expression was imputed for 27 different human tissues which were obtained from 134 to 421 individuals. A linear regression model including each individuals imputed gene expression data and the respective AMD status identified 106 genes significantly associated to AMD variants in at least one tissue (Q-value < 0.001). Gene enrichment analysis highlighted rather systemic than tissue- or cell-specific processes. Remarkably, 31 of the 106 genes overlapped with significant GWAS signals of other complex traits and diseases, such as neurological or autoimmune conditions. Taken together, our study highlights the fact that expression of genes associated with AMD is not restricted to retinal tissue as could be expected for an eye disease of the posterior pole, but instead is rather ubiquitous suggesting processes underlying AMD pathology to be of systemic nature.
dc.languageen
dc.publisherNature Publishing Group UK
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/631/114
dc.subject/692/4017
dc.subject/692/420
dc.subject/631/208/199
dc.subject/631/208/200
dc.subject/631/208/205
dc.subject/631/208/480
dc.subjectarticle
dc.titleA transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
dc.typeArticle
dc.date.updated2021-01-30T16:12:44Z
prism.issueIdentifier1
prism.publicationNameScientific Reports
prism.volume10
dc.identifier.doi10.17863/CAM.64025
dcterms.dateAccepted2020-01-16
rioxxterms.versionofrecord10.1038/s41598-020-58510-9
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.identifier.eissn2045-2322


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)