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Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

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  1. Risk factors for infections in newly diagnosed Multiple Myeloma patients: A Danish retrospective nationwide cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

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  3. Risk factors for blood stream infections in multiple myeloma: A population-based study of 1154 patients in Denmark

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  • Molly Went
  • Amit Sud
  • Asta Försti
  • Britt-Marie Halvarsson
  • Niels Weinhold
  • Scott Kimber
  • Mark van Duin
  • Gudmar Thorleifsson
  • Amy Holroyd
  • David C Johnson
  • Ni Li
  • Giulia Orlando
  • Philip J Law
  • Mina Ali
  • Bowang Chen
  • Jonathan S Mitchell
  • Daniel F Gudbjartsson
  • Rowan Kuiper
  • Owen W Stephens
  • Uta Bertsch
  • Peter Broderick
  • Chiara Campo
  • Obul R Bandapalli
  • Hermann Einsele
  • Walter A Gregory
  • Urban Gullberg
  • Jens Hillengass
  • Per Hoffmann
  • Graham H Jackson
  • Karl-Heinz Jöckel
  • Ellinor Johnsson
  • Sigurður Y Kristinsson
  • Ulf-Henrik Mellqvist
  • Hareth Nahi
  • Douglas Easton
  • Paul Pharoah
  • Alison Dunning
  • Julian Peto
  • Federico Canzian
  • Anthony Swerdlow
  • Rosalind A Eeles
  • ZSofia Kote-Jarai
  • Kenneth Muir
  • Nora Pashayan
  • Jolanta Nickel
  • Markus M Nöthen
  • Thorunn Rafnar
  • Fiona M Ross
  • Miguel Inacio da Silva Filho
  • Annette Vangsted
  • PRACTICAL consortium
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Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight into the biological basis of MM.

Original languageEnglish
JournalNature Communications
Volume9
Issue number1
Pages (from-to)3707
ISSN2041-1723
DOIs
Publication statusPublished - 13 Sep 2018

    Research areas

  • Bayes Theorem, Chromatin/chemistry, Chromatin Immunoprecipitation, European Continental Ancestry Group/genetics, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Multiple Myeloma/genetics, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Quality Control, Quantitative Trait Loci, Risk

ID: 56692678