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@ARTICLE{Clavero:276324,
      author       = {E. Clavero and J. M. Sanchez-Maldonado and A. Macauda$^*$
                      and R. Ter Horst and B. Sampaio-Marques and A. Jurczyszyn
                      and A. Clay-Gilmour and A. Stein$^*$ and M. A. T.
                      Hildebrandt and N. Weinhold and G. Buda and R. García-Sanz
                      and W. Tomczak and U. Vogel and A. Jerez and D. Zawirska and
                      M. Wątek and J. N. Hofmann and S. Landi and J. J. Spinelli
                      and A. Butrym and A. Kumar and J. Martínez-López and S.
                      Galimberti and M. E. Sarasquete and E. Subocz and E.
                      Iskierka-Jażdżewska and G. G. Giles and M. Rybicka-Ramos
                      and M. Kruszewski and N. Abildgaard and F. G. Verdejo and P.
                      Sánchez Rovira and M. I. da Silva Filho$^*$ and K. Kadar
                      and M. Razny and W. Cozen and M. Pelosini and M. Jurado and
                      P. Bhatti and M. Dudzinski and A. Druzd-Sitek and E.
                      Orciuolo and Y. Li and A. D. Norman and J. M. Zaucha and R.
                      M. Reis and M. Markiewicz and J. J. Rodríguez Sevilla and
                      V. Andersen and K. Jamroziak and K. Hemminki$^*$ and S. I.
                      Berndt and V. Rajkumar and G. Mazur and S. K. Kumar and P.
                      Ludovico and A. Nagler and S. J. Chanock and C. Dumontet and
                      M. J. Machiela and J. Varkonyi and N. J. Camp and E. Ziv and
                      A. J. Vangsted and E. E. Brown and D. Campa and C. M. Vachon
                      and M. G. Netea and F. Canzian$^*$ and A. Försti$^*$ and J.
                      Sainz},
      title        = {{P}olymorphisms within {A}utophagy-{R}elated {G}enes as
                      {S}usceptibility {B}iomarkers for {M}ultiple {M}yeloma: {A}
                      {M}eta-{A}nalysis of {T}hree {L}arge {C}ohorts and
                      {F}unctional {C}haracterization.},
      journal      = {International journal of molecular sciences},
      volume       = {24},
      number       = {10},
      issn         = {1422-0067},
      address      = {Basel},
      publisher    = {Molecular Diversity Preservation International},
      reportid     = {DKFZ-2023-01054},
      pages        = {8500},
      year         = {2023},
      abstract     = {Multiple myeloma (MM) arises following malignant
                      proliferation of plasma cells in the bone marrow, that
                      secrete high amounts of specific monoclonal immunoglobulins
                      or light chains, resulting in the massive production of
                      unfolded or misfolded proteins. Autophagy can have a dual
                      role in tumorigenesis, by eliminating these abnormal
                      proteins to avoid cancer development, but also ensuring MM
                      cell survival and promoting resistance to treatments. To
                      date no studies have determined the impact of genetic
                      variation in autophagy-related genes on MM risk. We
                      performed meta-analysis of germline genetic data on 234
                      autophagy-related genes from three independent study
                      populations including 13,387 subjects of European ancestry
                      (6863 MM patients and 6524 controls) and examined
                      correlations of statistically significant single nucleotide
                      polymorphisms (SNPs; p < 1 × 10-9) with immune responses in
                      whole blood, peripheral blood mononuclear cells (PBMCs), and
                      monocyte-derived macrophages (MDM) from a large population
                      of healthy donors from the Human Functional Genomic Project
                      (HFGP). We identified SNPs in six loci, CD46, IKBKE, PARK2,
                      ULK4, ATG5, and CDKN2A associated with MM risk (p = 4.47 ×
                      10-4-5.79 × 10-14). Mechanistically, we found that the
                      ULK4rs6599175 SNP correlated with circulating concentrations
                      of vitamin D3 (p = 4.0 × 10-4), whereas the IKBKErs17433804
                      SNP correlated with the number of transitional CD24+CD38+ B
                      cells (p = 4.8 × 10-4) and circulating serum concentrations
                      of Monocyte Chemoattractant Protein (MCP)-2 (p = 3.6 ×
                      10-4). We also found that the CD46rs1142469 SNP correlated
                      with numbers of CD19+ B cells, CD19+CD3- B cells, CD5+IgD-
                      cells, IgM- cells, IgD-IgM- cells, and CD4-CD8- PBMCs (p =
                      4.9 × 10-4-8.6 × 10-4) and circulating concentrations of
                      interleukin (IL)-20 (p = 0.00082). Finally, we observed that
                      the CDKN2Ars2811710 SNP correlated with levels of
                      CD4+EMCD45RO+CD27- cells (p = 9.3 × 10-4). These results
                      suggest that genetic variants within these six loci
                      influence MM risk through the modulation of specific subsets
                      of immune cells, as well as vitamin D3-, MCP-2-, and
                      IL20-dependent pathways.},
      keywords     = {Humans / Multiple Myeloma: genetics / Multiple Myeloma:
                      pathology / Leukocytes, Mononuclear: pathology / Biomarkers
                      / Immunoglobulin M / Autophagy / autophagy (Other) / genetic
                      susceptibility (Other) / genetic variants (Other) / multiple
                      myeloma (Other) / Biomarkers (NLM Chemicals) /
                      Immunoglobulin M (NLM Chemicals)},
      cin          = {C055 / C050 / C020 / B062 / HD01},
      ddc          = {540},
      cid          = {I:(DE-He78)C055-20160331 / I:(DE-He78)C050-20160331 /
                      I:(DE-He78)C020-20160331 / 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:37239846},
      pmc          = {pmc:PMC10218542},
      doi          = {10.3390/ijms24108500},
      url          = {https://inrepo02.dkfz.de/record/276324},
}