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dc.contributor.authorDuran-Lozano, L
dc.contributor.authorThorleifsson, G
dc.contributor.authorLopez de Lapuente Portilla, A
dc.contributor.authorNiroula, A
dc.contributor.authorWent, M
dc.contributor.authorThodberg, M
dc.contributor.authorPertesi, M
dc.contributor.authorAjore, R
dc.contributor.authorCafaro, C
dc.contributor.authorOlason, PI
dc.contributor.authorStefansdottir, L
dc.contributor.authorBragi Walters, G
dc.contributor.authorHalldorsson, GH
dc.contributor.authorTuresson, I
dc.contributor.authorKaiser, MF
dc.contributor.authorWeinhold, N
dc.contributor.authorAbildgaard, N
dc.contributor.authorAndersen, NF
dc.contributor.authorMellqvist, U-H
dc.contributor.authorWaage, A
dc.contributor.authorJuul-Vangsted, A
dc.contributor.authorThorsteinsdottir, U
dc.contributor.authorHansson, M
dc.contributor.authorHoulston, R
dc.contributor.authorRafnar, T
dc.contributor.authorStefansson, K
dc.contributor.authorNilsson, B
dc.date.accessioned2021-06-11T13:07:06Z
dc.date.available2021-06-11T13:07:06Z
dc.date.issued2021-04-19
dc.identifier.citationBlood cancer journal, 2021, 11 (4), pp. 76 - ?
dc.identifier.issn2044-5385
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/4634
dc.identifier.eissn2044-5385
dc.identifier.doi10.1038/s41408-021-00468-6
dc.description.abstractMultiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide association study totalling 5,320 cases and 422,289 controls from four Nordic populations, and find a novel MM risk variant at SOHLH2 at 13q13.3 (risk allele frequency = 3.5%; odds ratio = 1.38; P = 2.2 × 10 -14 ). This gene encodes a transcription factor involved in gametogenesis that is normally only weakly expressed in plasma cells. The association is represented by 14 variants in linkage disequilibrium. Among these, rs75712673 maps to a genomic region with open chromatin in plasma cells, and upregulates SOHLH2 in this cell type. Moreover, rs75712673 influences transcriptional activity in luciferase assays, and shows a chromatin looping interaction with the SOHLH2 promoter. Our work provides novel insight into MM susceptibility.
dc.formatElectronic
dc.format.extent76 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleGermline variants at SOHLH2 influence multiple myeloma risk.
dc.typeJournal Article
dcterms.dateAccepted2021-03-31
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1038/s41408-021-00468-6
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2021-04-19
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfBlood cancer journal
pubs.issue4
pubs.notesNot known
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
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.publication-statusPublished
pubs.volume11
pubs.embargo.termsNot known
icr.researchteamCancer Genomics
icr.researchteamMyeloma Group
icr.researchteamCancer Genomicsen_US
icr.researchteamMyeloma Groupen_US
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorKaiser, Martinen


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