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dc.contributor.authorWent, Men_US
dc.contributor.authorKinnersley, Ben_US
dc.contributor.authorSud, Aen_US
dc.contributor.authorJohnson, DCen_US
dc.contributor.authorWeinhold, Nen_US
dc.contributor.authorFörsti, Aen_US
dc.contributor.authorvan Duin, Men_US
dc.contributor.authorOrlando, Gen_US
dc.contributor.authorMitchell, JSen_US
dc.contributor.authorKuiper, Ren_US
dc.contributor.authorWalker, BAen_US
dc.contributor.authorGregory, WMen_US
dc.contributor.authorHoffmann, Pen_US
dc.contributor.authorJackson, GHen_US
dc.contributor.authorNöthen, MMen_US
dc.contributor.authorda Silva Filho, MIen_US
dc.contributor.authorThomsen, Hen_US
dc.contributor.authorBroyl, Aen_US
dc.contributor.authorDavies, FEen_US
dc.contributor.authorThorsteinsdottir, Uen_US
dc.contributor.authorHansson, Men_US
dc.contributor.authorKaiser, Men_US
dc.contributor.authorSonneveld, Pen_US
dc.contributor.authorGoldschmidt, Hen_US
dc.contributor.authorStefansson, Ken_US
dc.contributor.authorHemminki, Ken_US
dc.contributor.authorNilsson, Ben_US
dc.contributor.authorMorgan, GJen_US
dc.contributor.authorHoulston, RSen_US
dc.coverage.spatialEnglanden_US
dc.date.accessioned2019-08-27T08:19:29Z
dc.date.issued2019-08-20en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/31429796en_US
dc.identifier10.1186/s40246-019-0231-5en_US
dc.identifier.citationHum Genomics, 2019, 13 (1), pp. 37 - ?en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3329
dc.identifier.eissn1479-7364en_US
dc.identifier.doi10.1186/s40246-019-0231-5en_US
dc.description.abstractBACKGROUND: While genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate causal genes at these regions and search for novel risk regions, we performed a multi-tissue transcriptome-wide association study (TWAS). RESULTS: GWAS data on 7319 MM cases and 234,385 controls was integrated with Genotype-Tissue Expression Project (GTEx) data assayed in 48 tissues (sample sizes, N = 80-491), including lymphocyte cell lines and whole blood, to predict gene expression. We identified 108 genes at 13 independent regions associated with MM risk, all of which were in 1 Mb of known MM GWAS risk variants. Of these, 94 genes, located in eight regions, had not previously been considered as a candidate gene for that locus. CONCLUSIONS: Our findings highlight the value of leveraging expression data from multiple tissues to identify candidate genes responsible for GWAS associations which provide insight into MM tumorigenesis. Among the genes identified, a number have plausible roles in MM biology, notably APOBEC3C, APOBEC3H, APOBEC3D, APOBEC3F, APOBEC3G, or have been previously implicated in other malignancies. The genes identified in this TWAS can be explored for follow-up and validation to further understand their role in MM biology.en_US
dc.format.extent37 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectGene expressionen_US
dc.subjectGenome-wide association studyen_US
dc.subjectMultiple myelomaen_US
dc.subjectTranscriptome-wide association studyen_US
dc.titleTranscriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.en_US
dc.typeJournal Article
dcterms.dateAccepted2019-08-12en_US
rioxxterms.versionofrecord10.1186/s40246-019-0231-5en_US
rioxxterms.licenseref.startdate2019-08-20en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfHum Genomicsen_US
pubs.issue1en_US
pubs.notesNo embargoen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.publication-statusPublished onlineen_US
pubs.volume13en_US
pubs.embargo.termsNo embargoen_US
icr.researchteamMolecular & Population Geneticsen_US
icr.researchteamMyeloma Groupen_US
dc.contributor.icrauthorKaiser, Martinen_US
dc.contributor.icrauthorHoulston, Richarden_US
dc.contributor.icrauthorSud, Amiten_US
dc.contributor.icrauthorWent, Molly-Annen_US
dc.contributor.icrauthorKinnersley, Benjaminen_US
dc.contributor.icrauthorWent, Mollyen_US


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