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000292095 041__ $$aEnglish
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000292095 1001_ $$00000-0003-3271-975X$$aWent, Molly$$b0
000292095 245__ $$aDeciphering the genetics and mechanisms of predisposition to multiple myeloma.
000292095 260__ $$a[London]$$bNature Publishing Group UK$$c2024
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000292095 520__ $$aMultiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal mechanisms for inherited MM risk: longer telomeres; and elevated levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in plasma. The largest increase in BCMA and IL5RA levels is mediated by the risk variant rs34562254-A at TNFRSF13B. While individuals with loss-of-function variants in TNFRSF13B develop B-cell immunodeficiency, rs34562254-A exerts a gain-of-function effect, increasing MM risk through amplified B-cell responses. Our results represent an analysis of genetic MM predisposition, highlighting causal mechanisms contributing to MM development.
000292095 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
000292095 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
000292095 650_7 $$2NLM Chemicals$$aB-Cell Maturation Antigen
000292095 650_7 $$2NLM Chemicals$$aTNFRSF13B protein, human
000292095 650_7 $$2NLM Chemicals$$aTransmembrane Activator and CAML Interactor Protein
000292095 650_2 $$2MeSH$$aMultiple Myeloma: genetics
000292095 650_2 $$2MeSH$$aHumans
000292095 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000292095 650_2 $$2MeSH$$aGenome-Wide Association Study
000292095 650_2 $$2MeSH$$aB-Cell Maturation Antigen: genetics
000292095 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000292095 650_2 $$2MeSH$$aMendelian Randomization Analysis
000292095 650_2 $$2MeSH$$aB-Lymphocytes: immunology
000292095 650_2 $$2MeSH$$aB-Lymphocytes: metabolism
000292095 650_2 $$2MeSH$$aCase-Control Studies
000292095 650_2 $$2MeSH$$aTransmembrane Activator and CAML Interactor Protein: genetics
000292095 650_2 $$2MeSH$$aMale
000292095 650_2 $$2MeSH$$aTelomere: genetics
000292095 7001_ $$aDuran-Lozano, Laura$$b1
000292095 7001_ $$00000-0001-7067-9862$$aHalldorsson, Gisli H$$b2
000292095 7001_ $$00000-0001-5162-5391$$aGunnell, Andrea$$b3
000292095 7001_ $$aUgidos-Damboriena, Nerea$$b4
000292095 7001_ $$00000-0001-9663-4611$$aLaw, Philip$$b5
000292095 7001_ $$aEkdahl, Ludvig$$b6
000292095 7001_ $$00000-0002-6133-0164$$aSud, Amit$$b7
000292095 7001_ $$00000-0003-4623-9087$$aThorleifsson, Gudmar$$b8
000292095 7001_ $$00000-0001-6244-3841$$aThodberg, Malte$$b9
000292095 7001_ $$00000-0001-5454-938X$$aOlafsdottir, Thorunn$$b10
000292095 7001_ $$00009-0008-3426-2347$$aLamarca-Arrizabalaga, Antton$$b11
000292095 7001_ $$aCafaro, Caterina$$b12
000292095 7001_ $$00000-0002-5904-0635$$aNiroula, Abhishek$$b13
000292095 7001_ $$aAjore, Ram$$b14
000292095 7001_ $$aLopez de Lapuente Portilla, Aitzkoa$$b15
000292095 7001_ $$aAli, Zain$$b16
000292095 7001_ $$00000-0002-4869-8925$$aPertesi, Maroulio$$b17
000292095 7001_ $$aGoldschmidt, Hartmut$$b18
000292095 7001_ $$aStefansdottir, Lilja$$b19
000292095 7001_ $$aKristinsson, Sigurdur Y$$b20
000292095 7001_ $$00000-0002-4732-7380$$aStacey, Simon N$$b21
000292095 7001_ $$aLove, Thorvardur J$$b22
000292095 7001_ $$aRognvaldsson, Saemundur$$b23
000292095 7001_ $$00000-0001-6955-6267$$aHajek, Roman$$b24
000292095 7001_ $$aVodicka, Pavel$$b25
000292095 7001_ $$00000-0002-0557-9803$$aPettersson-Kymmer, Ulrika$$b26
000292095 7001_ $$aSpäth, Florentin$$b27
000292095 7001_ $$00000-0002-2699-1741$$aSchinke, Carolina$$b28
000292095 7001_ $$00000-0001-9959-1282$$aVan Rhee, Frits$$b29
000292095 7001_ $$00000-0001-7123-6123$$aSulem, Patrick$$b30
000292095 7001_ $$00000-0001-8090-7988$$aFerkingstad, Egil$$b31
000292095 7001_ $$00000-0002-9580-6685$$aHjorleifsson Eldjarn, Grimur$$b32
000292095 7001_ $$aMellqvist, Ulf-Henrik$$b33
000292095 7001_ $$00000-0001-8339-150X$$aJonsdottir, Ingileif$$b34
000292095 7001_ $$00000-0002-4271-6360$$aMorgan, Gareth$$b35
000292095 7001_ $$aSonneveld, Pieter$$b36
000292095 7001_ $$00000-0001-9072-1220$$aWaage, Anders$$b37
000292095 7001_ $$0P:(DE-He78)66b39a79f3f922997656d7b902d324fb$$aWeinhold, Niels$$b38$$udkfz
000292095 7001_ $$aThomsen, Hauke$$b39
000292095 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b40$$udkfz
000292095 7001_ $$00000-0002-7715-4548$$aHansson, Markus$$b41
000292095 7001_ $$00000-0002-2131-731X$$aJuul-Vangsted, Annette$$b42
000292095 7001_ $$aThorsteinsdottir, Unnur$$b43
000292095 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b44$$udkfz
000292095 7001_ $$00000-0002-3677-4804$$aKaiser, Martin$$b45
000292095 7001_ $$00000-0003-0491-7046$$aRafnar, Thorunn$$b46
000292095 7001_ $$00000-0003-1676-864X$$aStefansson, Kari$$b47
000292095 7001_ $$00000-0002-5268-0242$$aHoulston, Richard$$b48
000292095 7001_ $$00000-0001-5542-0254$$aNilsson, Björn$$b49
000292095 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-024-50932-7$$gVol. 15, no. 1, p. 6644$$n1$$p6644$$tNature Communications$$v15$$x2041-1723$$y2024
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