dc.contributor.author | Duran-Lozano, Laura | |
dc.contributor.author | Thorleifsson, Gudmar | |
dc.contributor.author | Lopez de Lapuente Portilla, Aitzkoa | |
dc.contributor.author | Niroula, Abhishek | |
dc.contributor.author | Went, Molly | |
dc.contributor.author | Thodberg, Malte | |
dc.contributor.author | Pertesi, Maroulio | |
dc.contributor.author | Ajore, Ram | |
dc.contributor.author | Cafaro, Caterina | |
dc.contributor.author | Olason, P | |
dc.contributor.author | Stefansdottir, Lilja | |
dc.contributor.author | Bragi Walters, Walters | |
dc.contributor.author | Halldorsson, Gisli H. | |
dc.contributor.author | Turesson, Ingemar | |
dc.contributor.author | Kaiser, Martin | |
dc.contributor.author | Weinhold, Niels | |
dc.contributor.author | Abildgaard, Niels | |
dc.contributor.author | Andersen, Niels Frost | |
dc.contributor.author | Mellqvist, Ulf-Henrik | |
dc.contributor.author | Waage, Anders | |
dc.contributor.author | Vangsted, Annette | |
dc.contributor.author | Thorsteinsdottir, Unnur | |
dc.contributor.author | Hansson, Markus | |
dc.contributor.author | Houlston, Richard S. | |
dc.contributor.author | Rafnar, Thorunn | |
dc.contributor.author | Stefansson, Kari | |
dc.contributor.author | Nilsson, Björn | |
dc.date.accessioned | 2023-01-23T15:16:40Z | |
dc.date.available | 2023-01-23T15:16:40Z | |
dc.date.created | 2022-02-22T09:43:56Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Blood Cancer Journal. 2021, 11 (4), . | en_US |
dc.identifier.issn | 2044-5385 | |
dc.identifier.uri | https://hdl.handle.net/11250/3045455 | |
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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Springer Nature | en_US |
dc.rights | Navngivelse 4.0 Internasjonal | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/deed.no | * |
dc.title | Germline variants at SOHLH2 influence multiple myeloma risk | en_US |
dc.title.alternative | Germline variants at SOHLH2 influence multiple myeloma risk | en_US |
dc.type | Peer reviewed | en_US |
dc.type | Journal article | en_US |
dc.description.version | publishedVersion | en_US |
dc.source.pagenumber | 0 | en_US |
dc.source.volume | 11 | en_US |
dc.source.journal | Blood Cancer Journal | en_US |
dc.source.issue | 4 | en_US |
dc.identifier.doi | 10.1038/s41408-021-00468-6 | |
dc.identifier.cristin | 2004369 | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |