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dc.contributor.authorOrtiz-Fernández, Lourdesen
dc.contributor.authorSaruhan-Direskeneli, Güheren
dc.contributor.authorAlibaz-Oner, Fatmaen
dc.contributor.authorKaymaz-Tahra, Semaen
dc.contributor.authorCoit, Patricken
dc.contributor.authorKong, Xiufangen
dc.contributor.authorKiprianos, Allan Pen
dc.contributor.authorMaughan, Robert Ten
dc.contributor.authorAydin, Sibel Zen
dc.contributor.authorAksu, Kenanen
dc.contributor.authorKeser, Gokhanen
dc.contributor.authorKamali, Sevilen
dc.contributor.authorInanc, Muraten
dc.contributor.authorSpringer, Jasonen
dc.contributor.authorAkar, Serveten
dc.contributor.authorOnen, Fatosen
dc.contributor.authorAkkoc, Nurullahen
dc.contributor.authorKhalidi, Nader Aen
dc.contributor.authorKoening, Curryen
dc.contributor.authorKaradag, Omeren
dc.contributor.authorKiraz, Sedaten
dc.contributor.authorForbess, Lindsyen
dc.contributor.authorLangford, Carol Aen
dc.contributor.authorMcAlear, Carol Aen
dc.contributor.authorOzbalkan, Zeynepen
dc.contributor.authorYavuz, Suleen
dc.contributor.authorÇetin, Gozde Yildirimen
dc.contributor.authorAlpay-Kanitez, Niluferen
dc.contributor.authorChung, Sharonen
dc.contributor.authorAtes, Askinen
dc.contributor.authorKaraaslan, Yasaren
dc.contributor.authorMcKinnon-Maksimowicz, Kathleenen
dc.contributor.authorMonach, Paul Aen
dc.contributor.authorOzer, Hüseyin TEen
dc.contributor.authorSeyahi, Emireen
dc.contributor.authorFresko, Izzeten
dc.contributor.authorCefle, Ayseen
dc.contributor.authorSeo, Philipen
dc.contributor.authorWarrington, Kenneth Jen
dc.contributor.authorOzturk, Mehmet Aen
dc.contributor.authorYtterberg, Steven Ren
dc.contributor.authorCobankara, Velien
dc.contributor.authorOnat, Ahmet Mesuten
dc.contributor.authorDuzgun, Nurşenen
dc.contributor.authorBıcakcıgil, Mugeen
dc.contributor.authorYentür, Sibel Pen
dc.contributor.authorLally, Lindsayen
dc.contributor.authorManfredi, Angelo Aen
dc.contributor.authorBaldissera, Elenaen
dc.contributor.authorErken, Erenen
dc.contributor.authorYazici, Aytenen
dc.contributor.authorKısacık, Bünyaminen
dc.contributor.authorKaşifoğlu, Timuçinen
dc.contributor.authorDalkilic, Edizen
dc.contributor.authorCuthbertson, Daviden
dc.contributor.authorPagnoux, Christianen
dc.contributor.authorSreih, Antoineen
dc.contributor.authorReales, Guillermoen
dc.contributor.authorWallace, Chrisen
dc.contributor.authorWren, Jonathan Den
dc.contributor.authorCunninghame-Graham, Deborah Sen
dc.contributor.authorVyse, Timothy Jen
dc.contributor.authorSun, Yingen
dc.contributor.authorChen, Huiyongen
dc.contributor.authorGrayson, Peter Cen
dc.contributor.authorTombetti, Enricoen
dc.contributor.authorJiang, Lindien
dc.contributor.authorMason, Justin Cen
dc.contributor.authorMerkel, Peter Aen
dc.contributor.authorDireskeneli, Haneren
dc.contributor.authorSawalha, Amr Hen
dc.date.accessioned2020-11-27T00:31:24Z
dc.date.available2020-11-27T00:31:24Z
dc.date.issued2021-01en
dc.identifier.issn0002-9297
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/313440
dc.description.abstractTakayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 cases) from five different populations. We revealed previously unreported HLA risk factors and four novel non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21, and reinforced IL12B, PTPK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p< 5X10-5) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets.
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.publisherCell Press
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectHumansen
dc.subjectInflammatory Bowel Diseasesen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectCase-Control Studiesen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectFemaleen
dc.subjectMaleen
dc.subjectTakayasu Arteritisen
dc.subjectGenome-Wide Association Studyen
dc.titleIdentification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study.en
dc.typeArticle
prism.endingPage99
prism.issueIdentifier1en
prism.publicationDate2021en
prism.publicationNameAmerican journal of human geneticsen
prism.startingPage84
prism.volume108en
dc.identifier.doi10.17863/CAM.60547
dcterms.dateAccepted2020-11-17en
rioxxterms.versionofrecord10.1016/j.ajhg.2020.11.014en
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2021-01en
dc.contributor.orcidOrtiz-Fernández, Lourdes [0000-0002-0247-4280]
dc.contributor.orcidCoit, Patrick [0000-0003-0660-764X]
dc.contributor.orcidWallace, Catriona [0000-0001-9755-1703]
dc.identifier.eissn1537-6605
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idWELLCOME TRUST (107881/Z/15/Z)
pubs.funder-project-idMedical Research Council (MC_UU_00002/4)
cam.orpheus.successMon Dec 21 07:31:00 GMT 2020 - Embargo updated*
cam.orpheus.counter4*
rioxxterms.freetoread.startdate2021-06-03


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Attribution-NonCommercial-NoDerivatives 4.0 International
Except where otherwise noted, this item's licence is described as Attribution-NonCommercial-NoDerivatives 4.0 International