dc.contributor | Landspitali - The National University Hospital of Iceland |
dc.contributor.author | Went, Molly |
dc.contributor.author | Duran-Lozano, Laura |
dc.contributor.author | Halldorsson, Gisli H. |
dc.contributor.author | Gunnell, Andrea |
dc.contributor.author | Ugidos-Damboriena, Nerea |
dc.contributor.author | Law, Philip |
dc.contributor.author | Ekdahl, Ludvig |
dc.contributor.author | Sud, Amit |
dc.contributor.author | Thorleifsson, Gudmar |
dc.contributor.author | Thodberg, Malte |
dc.contributor.author | Ólafsdóttir, Þórunn Ásta |
dc.contributor.author | Lamarca-Arrizabalaga, Antton |
dc.contributor.author | Cafaro, Caterina |
dc.contributor.author | Niroula, Abhishek |
dc.contributor.author | Ajore, Ram |
dc.contributor.author | Lopez de Lapuente Portilla, Aitzkoa |
dc.contributor.author | Ali, Zain |
dc.contributor.author | Pertesi, Maroulio |
dc.contributor.author | Goldschmidt, Hartmut |
dc.contributor.author | Stefansdottir, Lilja |
dc.contributor.author | Kristinsson, Sigurður Yngvi |
dc.contributor.author | Stacey, Simon N. |
dc.contributor.author | Löve, Þorvarður Jón |
dc.contributor.author | Rögnvaldsson, Sæmundur |
dc.contributor.author | Hajek, Roman |
dc.contributor.author | Vodicka, Pavel |
dc.contributor.author | Pettersson-Kymmer, Ulrika |
dc.contributor.author | Späth, Florentin |
dc.contributor.author | Schinke, Carolina |
dc.contributor.author | Van Rhee, Frits |
dc.contributor.author | Sulem, Patrick |
dc.contributor.author | Ferkingstad, Egil |
dc.contributor.author | Hjorleifsson Eldjarn, Grimur |
dc.contributor.author | Mellqvist, Ulf Henrik |
dc.contributor.author | Jonsdottir, Ingileif |
dc.contributor.author | Morgan, Gareth |
dc.contributor.author | Sonneveld, Pieter |
dc.contributor.author | Waage, Anders |
dc.contributor.author | Weinhold, Niels |
dc.contributor.author | Thomsen, Hauke |
dc.contributor.author | Försti, Asta |
dc.contributor.author | Hansson, Markus |
dc.contributor.author | Juul-Vangsted, Annette |
dc.contributor.author | Thorsteinsdottir, Unnur |
dc.contributor.author | Hemminki, Kari |
dc.contributor.author | Kaiser, Martin |
dc.contributor.author | Rafnar, Thorunn |
dc.contributor.author | Stefansson, Kari |
dc.contributor.author | Houlston, Richard |
dc.contributor.author | Nilsson, Björn |
dc.date.accessioned | 2024-09-04T01:07:57Z |
dc.date.available | 2024-09-04T01:07:57Z |
dc.date.issued | 2024-08-05 |
dc.identifier.citation | Went , M , Duran-Lozano , L , Halldorsson , G H , Gunnell , A , Ugidos-Damboriena , N , Law , P , Ekdahl , L , Sud , A , Thorleifsson , G , Thodberg , M , Ólafsdóttir , Þ Á , Lamarca-Arrizabalaga , A , Cafaro , C , Niroula , A , Ajore , R , Lopez de Lapuente Portilla , A , Ali , Z , Pertesi , M , Goldschmidt , H , Stefansdottir , L , Kristinsson , S Y , Stacey , S N , Löve , Þ J , Rögnvaldsson , S , Hajek , R , Vodicka , P , Pettersson-Kymmer , U , Späth , F , Schinke , C , Van Rhee , F , Sulem , P , Ferkingstad , E , Hjorleifsson Eldjarn , G , Mellqvist , U H , Jonsdottir , I , Morgan , G , Sonneveld , P , Waage , A , Weinhold , N , Thomsen , H , Försti , A , Hansson , M , Juul-Vangsted , A , Thorsteinsdottir , U , Hemminki , K , Kaiser , M , Rafnar , T , Stefansson , K , Houlston , R & Nilsson , B 2024 , ' Deciphering the genetics and mechanisms of predisposition to multiple myeloma ' , Nature Communications , vol. 15 , no. 1 , 6644 . https://doi.org/10.1038/s41467-024-50932-7 |
dc.identifier.issn | 2041-1723 |
dc.identifier.other | 227842965 |
dc.identifier.other | d42aae86-ed35-4fb1-8fd2-1dcab40b5c75 |
dc.identifier.other | 85200470126 |
dc.identifier.other | 39103364 |
dc.identifier.uri | https://hdl.handle.net/20.500.11815/4968 |
dc.description | Publisher Copyright: © The Author(s) 2024. |
dc.description.abstract | Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal mechanisms for inherited MM risk: longer telomeres; and elevated levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in plasma. The largest increase in BCMA and IL5RA levels is mediated by the risk variant rs34562254-A at TNFRSF13B. While individuals with loss-of-function variants in TNFRSF13B develop B-cell immunodeficiency, rs34562254-A exerts a gain-of-function effect, increasing MM risk through amplified B-cell responses. Our results represent an analysis of genetic MM predisposition, highlighting causal mechanisms contributing to MM development. |
dc.format.extent | 2669429 |
dc.format.extent | |
dc.language.iso | en |
dc.relation.ispartofseries | Nature Communications; 15(1) |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Blóðlæknisfræði |
dc.subject | Gigtarlæknisfræði |
dc.subject | General Chemistry |
dc.subject | General Biochemistry,Genetics and Molecular Biology |
dc.subject | General Physics and Astronomy |
dc.title | Deciphering the genetics and mechanisms of predisposition to multiple myeloma |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article |
dc.description.version | Peer reviewed |
dc.identifier.doi | 10.1038/s41467-024-50932-7 |
dc.relation.url | http://www.scopus.com/inward/record.url?scp=85200470126&partnerID=8YFLogxK |
dc.contributor.department | Faculty of Medicine |
dc.contributor.department | Other departments |