dc.contributor.author | Duran-Lozano, L | |
dc.contributor.author | Thorleifsson, G | |
dc.contributor.author | Lopez de Lapuente Portilla, A | |
dc.contributor.author | Niroula, A | |
dc.contributor.author | Went, M | |
dc.contributor.author | Thodberg, M | |
dc.contributor.author | Pertesi, M | |
dc.contributor.author | Ajore, R | |
dc.contributor.author | Cafaro, C | |
dc.contributor.author | Olason, PI | |
dc.contributor.author | Stefansdottir, L | |
dc.contributor.author | Bragi Walters, G | |
dc.contributor.author | Halldorsson, GH | |
dc.contributor.author | Turesson, I | |
dc.contributor.author | Kaiser, MF | |
dc.contributor.author | Weinhold, N | |
dc.contributor.author | Abildgaard, N | |
dc.contributor.author | Andersen, NF | |
dc.contributor.author | Mellqvist, U-H | |
dc.contributor.author | Waage, A | |
dc.contributor.author | Juul-Vangsted, A | |
dc.contributor.author | Thorsteinsdottir, U | |
dc.contributor.author | Hansson, M | |
dc.contributor.author | Houlston, R | |
dc.contributor.author | Rafnar, T | |
dc.contributor.author | Stefansson, K | |
dc.contributor.author | Nilsson, B | |
dc.date.accessioned | 2021-06-11T13:07:06Z | |
dc.date.available | 2021-06-11T13:07:06Z | |
dc.date.issued | 2021-04-19 | |
dc.identifier.citation | Blood cancer journal, 2021, 11 (4), pp. 76 - ? | |
dc.identifier.issn | 2044-5385 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/4634 | |
dc.identifier.eissn | 2044-5385 | |
dc.identifier.doi | 10.1038/s41408-021-00468-6 | |
dc.description.abstract | Multiple 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.format | Electronic | |
dc.format.extent | 76 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | SPRINGERNATURE | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.title | Germline variants at SOHLH2 influence multiple myeloma risk. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2021-03-31 | |
rioxxterms.version | VoR | |
rioxxterms.versionofrecord | 10.1038/s41408-021-00468-6 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2021-04-19 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Blood cancer journal | |
pubs.issue | 4 | |
pubs.notes | Not 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-status | Published | |
pubs.volume | 11 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Cancer Genomics | |
icr.researchteam | Myeloma Group | |
icr.researchteam | Cancer Genomics | |
icr.researchteam | Myeloma Group | |
dc.contributor.icrauthor | Went, Molly | |
dc.contributor.icrauthor | Kaiser, Martin | |
dc.contributor.icrauthor | Houlston, Richard | |