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@ARTICLE{Went:292095,
      author       = {M. Went and L. Duran-Lozano and G. H. Halldorsson and A.
                      Gunnell and N. Ugidos-Damboriena and P. Law and L. Ekdahl
                      and A. Sud and G. Thorleifsson and M. Thodberg and T.
                      Olafsdottir and A. Lamarca-Arrizabalaga and C. Cafaro and A.
                      Niroula and R. Ajore and A. Lopez de Lapuente Portilla and
                      Z. Ali and M. Pertesi and H. Goldschmidt and L.
                      Stefansdottir and S. Y. Kristinsson and S. N. Stacey and T.
                      J. Love and S. Rognvaldsson and R. Hajek and P. Vodicka and
                      U. Pettersson-Kymmer and F. Späth and C. Schinke and F. Van
                      Rhee and P. Sulem and E. Ferkingstad and G. Hjorleifsson
                      Eldjarn and U.-H. Mellqvist and I. Jonsdottir and G. Morgan
                      and P. Sonneveld and A. Waage and N. Weinhold$^*$ and H.
                      Thomsen and A. Försti$^*$ and M. Hansson and A.
                      Juul-Vangsted and U. Thorsteinsdottir and K. Hemminki$^*$
                      and M. Kaiser and T. Rafnar and K. Stefansson and R.
                      Houlston and B. Nilsson},
      title        = {{D}eciphering the genetics and mechanisms of predisposition
                      to multiple myeloma.},
      journal      = {Nature Communications},
      volume       = {15},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DKFZ-2024-01594},
      pages        = {6644},
      year         = {2024},
      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.},
      keywords     = {Multiple Myeloma: genetics / Humans / Genetic
                      Predisposition to Disease / Genome-Wide Association Study /
                      B-Cell Maturation Antigen: genetics / Polymorphism, Single
                      Nucleotide / Mendelian Randomization Analysis /
                      B-Lymphocytes: immunology / B-Lymphocytes: metabolism /
                      Case-Control Studies / Transmembrane Activator and CAML
                      Interactor Protein: genetics / Male / Telomere: genetics /
                      B-Cell Maturation Antigen (NLM Chemicals) / TNFRSF13B
                      protein, human (NLM Chemicals) / Transmembrane Activator and
                      CAML Interactor Protein (NLM Chemicals)},
      cin          = {B062 / Z999},
      ddc          = {500},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)Z999-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39103364},
      doi          = {10.1038/s41467-024-50932-7},
      url          = {https://inrepo02.dkfz.de/record/292095},
}