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dc.contributor.authorCordell, HJ
dc.contributor.authorHan, Y
dc.contributor.authorMells, GF
dc.contributor.authorLi, Y
dc.contributor.authorHirschfield, GM
dc.contributor.authorGreene, CS
dc.contributor.authorXie, G
dc.contributor.authorJuran, BD
dc.contributor.authorZhu, D
dc.contributor.authorQian, DC
dc.contributor.authorFloyd, JAB
dc.contributor.authorMorley, KI
dc.contributor.authorPrati, D
dc.contributor.authorLleo, A
dc.contributor.authorCusi, D
dc.contributor.authorGershwin, ME
dc.contributor.authorAnderson, CA
dc.contributor.authorLazaridis, KN
dc.contributor.authorInvernizzi, P
dc.contributor.authorSeldin, MF
dc.contributor.authorSandford, RN
dc.contributor.authorAmos, CI
dc.contributor.authorSiminovitch, KA
dc.contributor.authorSchlicht, EM
dc.contributor.authorLammert, C
dc.contributor.authorAtkinson, EJ
dc.contributor.authorChan, LL
dc.contributor.authorDe Andrade, M
dc.contributor.authorBalschun, T
dc.contributor.authorMason, AL
dc.contributor.authorMyers, RP
dc.contributor.authorZhang, J
dc.contributor.authorMilkiewicz, P
dc.contributor.authorQu, J
dc.contributor.authorOdin, JA
dc.contributor.authorLuketic, VA
dc.contributor.authorBacon, BR
dc.contributor.authorBodenheimer, HC
dc.contributor.authorLiakina, V
dc.contributor.authorVincent, C
dc.contributor.authorLevy, C
dc.contributor.authorGregersen, PK
dc.contributor.authorAlmasio, PL
dc.contributor.authorAlvaro, D
dc.contributor.authorAndreone, P
dc.contributor.authorAndriulli, A
dc.contributor.authorBarlassina, C
dc.contributor.authorBattezzati, PM
dc.contributor.authorBenedetti, A
dc.contributor.authorBernuzzi, F
dc.contributor.authorBianchi, I
dc.contributor.authorBragazzi, MC
dc.contributor.authorBrunetto, M
dc.contributor.authorBruno, S
dc.contributor.authorCasella, G
dc.contributor.authorCoco, B
dc.contributor.authorColli, A
dc.contributor.authorColombo, M
dc.contributor.authorColombo, S
dc.contributor.authorCursaro, C
dc.contributor.authorCrocè, LS
dc.contributor.authorCrosignani, A
dc.contributor.authorDonato, MF
dc.contributor.authorElia, G
dc.contributor.authorFabris, L
dc.contributor.authorFerrari, C
dc.contributor.authorFloreani, A
dc.contributor.authorFoglieni, B
dc.contributor.authorFontana, R
dc.contributor.authorGalli, A
dc.contributor.authorLazzari, R
dc.contributor.authorMacaluso, F
dc.contributor.authorMalinverno, F
dc.contributor.authorMarra, F
dc.contributor.authorMarzioni, M
dc.contributor.authorMattalia, A
dc.contributor.authorMontanari, R
dc.contributor.authorMorini, L
dc.contributor.authorMorisco, F
dc.contributor.authorMousa Hani, S
dc.contributor.authorMuratori, L
dc.contributor.authorMuratori, P
dc.contributor.authorNiro, GA
dc.contributor.authorPalmieri, VO
dc.contributor.authorPicciotto, A
dc.contributor.authorPodda, M
dc.contributor.authorPortincasa, P
dc.contributor.authorRonca, V
dc.contributor.authorRosina, F
dc.contributor.authorRossi, S
dc.contributor.authorSogno, I
dc.contributor.authorSpinzi, G
dc.contributor.authorSpreafico, M
dc.contributor.authorStrazzabosco, M
dc.contributor.authorTarallo, S
dc.contributor.authorTarocchi, M
dc.contributor.authorTiribelli, C
dc.contributor.authorToniutto, P
dc.contributor.authorVinci, M
dc.contributor.authorZuin, M
dc.contributor.authorBrookes, Matthew
dc.date.accessioned2021-11-03T16:07:35Z
dc.date.available2021-11-03T16:07:35Z
dc.date.issued2015-09-22
dc.identifier.citationCordell, H., Han, Y., Mells, G. et al. International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. Nature Communications, 6, 8019 (2015). https://doi.org/10.1038/ncomms9019en
dc.identifier.pmid26394269 (pubmed)
dc.identifier.doi10.1038/ncomms9019en
dc.identifier.urihttp://hdl.handle.net/2436/624433
dc.description© 2015 The Authors. Published by Springer. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: https://doi.org/10.1038/ncomms9019en
dc.description.abstractPrimary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined <5 × 10-8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.en
dc.description.sponsorshipThis study was funded by the Isaac Newton Trust, PBC Foundation, Medical Research Council (grant reference MR/L001489/1), Wellcome Trust (grants 085925), Ontario Physician Services Inc., Canadian Institutes for Health Research (MOP74621), the Ontario Research Fund (RE01-061) and National Institutes of Health (R01DK091823 and RO1DK80670). H.J.C. is a Wellcome Trust Research Fellow in the Basic Biomedical Science (087436 and 102858). C.S.G. is a Moore Investigator in Data-Driven Discovery (GBMF4552) and was supported in part by GM103534. G.F.M. is a post-doctoral clinical fellow of the National Institute for Health Research Rare Diseases (NIHR-RD) initiative. R.N.S. and G.M.H. receive salary support from a MRC-stratified medicine award (UK-PBC). C.I.A. is partially supported by P30 CA023108. K.A.S. is supported by the Sherman Family Chair in Genomic Medicine and a Canada Research Chair award. This study makes use of data generated by the WTCCC2 and WTCCC3, funded by the Wellcome Trust under awards 085475 and 090355. Access to genotype data from the TwinsUK cohort was kindly provided by the Department of Twin Research and Genetic Epidemiology at King’s College London. TwinsUK is funded by the Wellcome Trust and the European Community’s Seventh Framework Programme (FP7/2007-2013) and also receives support from the UK Department of Health via a National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre award to Guy’s & St Thomas’ NHS Foundation Trust in partnership with King’s College London.en
dc.formatapplication/pdfen
dc.languageeng
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttps://www.nature.com/articles/ncomms9019en
dc.rightsLicence for published version: Creative Commons Attribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCanadian-US PBC Consortiumen
dc.subjectItalian PBC Genetics Study Groupen
dc.subjectUK-PBC Consortiumen
dc.subject.meshHumans
dc.subject.meshLiver Cirrhosis, Biliary
dc.subject.meshGenome-Wide Association Study
dc.titleInternational genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathwaysen
dc.typeJournal articleen
dc.identifier.eissn2041-1723
dc.identifier.journalNature Communicationsen
dc.date.updated2020-08-07T14:20:11Z
dc.contributor.institutionInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
pubs.place-of-publicationEngland
dc.date.accepted2015-07-03
rioxxterms.funderIsaac Newton Trust, PBC Foundation, Medical Research Council, Wellcome Trust, Ontario Physician Services Inc., Canadian Institutes for Health Research, the Ontario Research Fund and National Institutes of Health.en
rioxxterms.identifier.project087436en
rioxxterms.identifier.projectR01DK091823en
rioxxterms.identifier.projectMOP74621en
rioxxterms.identifier.projectNF-SI-0513-10091en
rioxxterms.identifier.project085925en
rioxxterms.identifier.project090355en
rioxxterms.identifier.projectR01 DK080670en
rioxxterms.identifier.projectG0800460en
rioxxterms.identifier.projectUL1 TR001108en
rioxxterms.identifier.project085475en
rioxxterms.identifier.projectR01 DK091823en
rioxxterms.identifier.project102858/Z/13/Zen
rioxxterms.identifier.projectGM103534en
rioxxterms.identifier.projectMR/L001489/1en
rioxxterms.identifier.projectP20 GM103534en
rioxxterms.identifier.projectP30 CA023108en
rioxxterms.identifier.projectR01DK80670en
rioxxterms.versionVoRen
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/en
rioxxterms.licenseref.startdate2021-11-03en
dc.source.volume6
dc.source.issue1
dc.source.beginpage8019
dc.description.versionPublished version
refterms.dateFCD2021-11-03T16:04:13Z
refterms.versionFCDVoR
refterms.dateFOA2021-11-03T16:07:39Z


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Licence for published version: Creative Commons Attribution 4.0 International
Except where otherwise noted, this item's license is described as Licence for published version: Creative Commons Attribution 4.0 International