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dc.contributor.authorWent, M
dc.contributor.authorKinnersley, B
dc.contributor.authorSud, A
dc.contributor.authorJohnson, DC
dc.contributor.authorWeinhold, N
dc.contributor.authorFörsti, A
dc.contributor.authorvan Duin, M
dc.contributor.authorOrlando, G
dc.contributor.authorMitchell, JS
dc.contributor.authorKuiper, R
dc.contributor.authorWalker, BA
dc.contributor.authorGregory, WM
dc.contributor.authorHoffmann, P
dc.contributor.authorJackson, GH
dc.contributor.authorNöthen, MM
dc.contributor.authorda Silva Filho, MI
dc.contributor.authorThomsen, H
dc.contributor.authorBroyl, A
dc.contributor.authorDavies, FE
dc.contributor.authorThorsteinsdottir, U
dc.contributor.authorHansson, M
dc.contributor.authorKaiser, M
dc.contributor.authorSonneveld, P
dc.contributor.authorGoldschmidt, H
dc.contributor.authorStefansson, K
dc.contributor.authorHemminki, K
dc.contributor.authorNilsson, B
dc.contributor.authorMorgan, GJ
dc.contributor.authorHoulston, RS
dc.date.accessioned2019-08-27T08:19:29Z
dc.date.issued2019-08-20
dc.identifier.citationHuman genomics, 2019, 13 (1), pp. 37 - ?
dc.identifier.issn1473-9542
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3329
dc.identifier.eissn1479-7364
dc.identifier.doi10.1186/s40246-019-0231-5
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.
dc.formatElectronic
dc.format.extent37 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectMultiple Myeloma
dc.subjectGenetic Predisposition to Disease
dc.subjectAminohydrolases
dc.subjectCytidine Deaminase
dc.subjectCytosine Deaminase
dc.subjectGene Expression Profiling
dc.subjectGenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectQuantitative Trait Loci
dc.subjectGenome-Wide Association Study
dc.subjectTranscriptome
dc.subjectAPOBEC-3G Deaminase
dc.titleTranscriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.
dc.typeJournal Article
dcterms.dateAccepted2019-08-12
rioxxterms.versionofrecord10.1186/s40246-019-0231-5
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2019-08-20
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfHuman genomics
pubs.issue1
pubs.notesNo embargo
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/Cancer Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.organisational-group/ICR/Students
pubs.organisational-group/ICR/Students/PhD and MPhil
pubs.organisational-group/ICR/Students/PhD and MPhil/16/17 Starting Cohort
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/Cancer Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.organisational-group/ICR/Students
pubs.organisational-group/ICR/Students/PhD and MPhil
pubs.organisational-group/ICR/Students/PhD and MPhil/16/17 Starting Cohort
pubs.publication-statusPublished
pubs.volume13
pubs.embargo.termsNo embargo
icr.researchteamCancer Genomicsen_US
icr.researchteamMyeloma Groupen_US
dc.contributor.icrauthorWent, Mollyen
dc.contributor.icrauthorKaiser, Martinen
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorSud, Amiten
dc.contributor.icrauthorKinnersley, Benjaminen


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