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@ARTICLE{Thomsen:292338,
      author       = {H. Thomsen and S. Chattopadhyay and N. Weinhold and P.
                      Vodicka and L. Vodickova and P. Hoffmann and M. M. Nöthen
                      and K.-H. Jöckel and B. Schmidt and R. Hajek and G.
                      Hallmans and U. Pettersson-Kymmer and F. Späth and H.
                      Goldschmidt and K. Hemminki$^*$ and A. Försti$^*$},
      title        = {{H}aplotype analysis identifies functional elements in
                      monoclonal gammopathy of unknown significance.},
      journal      = {Blood cancer journal},
      volume       = {14},
      number       = {1},
      issn         = {2044-5385},
      address      = {London [u.a.]},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2024-01689},
      pages        = {140},
      year         = {2024},
      note         = {#LA:B062# / 2024 Aug 20;14(1):140},
      abstract     = {Genome-wide association studies (GWASs) based on common
                      single nucleotide polymorphisms (SNPs) have identified
                      several loci associated with the risk of monoclonal
                      gammopathy of unknown significance (MGUS), a precursor
                      condition for multiple myeloma (MM). We hypothesized that
                      analyzing haplotypes might be more useful than analyzing
                      individual SNPs, as it could identify functional chromosomal
                      units that collectively contribute to MGUS risk. To test
                      this hypothesis, we used data from our previous GWAS on 992
                      MGUS cases and 2910 controls from three European
                      populations. We identified 23 haplotypes that were
                      associated with the risk of MGUS at the genome-wide
                      significance level (p < 5 × 10-8) and showed consistent
                      results among all three populations. In 10 genomic regions,
                      strong promoter, enhancer and regulatory element-related
                      histone marks and their connections to target genes as well
                      as genome segmentation data supported the importance of
                      these regions in MGUS susceptibility. Several associated
                      haplotypes affected pathways important for MM cell survival
                      such as ubiquitin-proteasome system (RNF186, OTUD3),
                      PI3K/AKT/mTOR (HINT3), innate immunity (SEC14L1, ZBP1), cell
                      death regulation (BID) and NOTCH signaling (RBPJ). These
                      pathways are important current therapeutic targets for MM,
                      which may highlight the advantage of the haplotype approach
                      homing to functional units.},
      keywords     = {Humans / Monoclonal Gammopathy of Undetermined
                      Significance: genetics / Haplotypes / Genome-Wide
                      Association Study / Polymorphism, Single Nucleotide /
                      Genetic Predisposition to Disease / Male / Female / Multiple
                      Myeloma: genetics},
      cin          = {Z999 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)Z999-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39164264},
      doi          = {10.1038/s41408-024-01121-8},
      url          = {https://inrepo02.dkfz.de/record/292338},
}