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@ARTICLE{CabreraSerrano:304302,
      author       = {A. J. Cabrera-Serrano and J. M. Sánchez-Maldonado and J.
                      J. Rodríguez-Sevilla and F. J. Reyes-Zurita and R. Collado
                      and A. Puiggros and E. Cornejo-Calvo and P. García and R.
                      Ter Horst and Y. Benavente and A. Jerez and S. Landi and B.
                      Espinet and R. Maffei and M. Á. López-Nevot and S.
                      Ramos-Campoy and C. González-Olmedo and T.-H. Chen-Liang
                      and V. Moreno and F. Jannus and R. Marcos-Gragera and M.
                      Carretero-Fernández and B. Sampaio-Marques and I. Gámez
                      and M. Garcia-Alvarez and N. J. Camp and T. Dierssen-Sotos
                      and J. Kamaso and E. M. Pérez and A. D. Norman and M. Luppi
                      and Y. Li and M. Alcoceba and D. Campa and S. de Sanjose and
                      R. Marasca and P. Ludovico and A. I. Clay-Gilmour and F.
                      Canzian$^*$ and M. Ibañez and M. G. Netea and J. McKay and
                      D. Casabonne and S. I. Berndt and S. L. Slager and J. Sainz},
      title        = {{I}dentification of four autophagy-related genetic variants
                      as risk factors for chronic lymphocytic leukemia.},
      journal      = {Blood advances},
      volume       = {nn},
      issn         = {2473-9529},
      address      = {Washington, DC},
      publisher    = {American Society of Hematology},
      reportid     = {DKFZ-2025-01837},
      pages        = {nn},
      year         = {2025},
      note         = {epub},
      abstract     = {We investigated the influence of 55,583 autophagy-related
                      single nucleotide polymorphisms (SNPs) on chronic
                      lymphocytic leukemia (CLL) risk across four independent
                      populations comprising 5,472 CLL cases and 726,465 controls.
                      We also examined their impact on overall survival (OS), time
                      to first treatment (TTFT), autophagy flux, and immune
                      responses. A meta-analysis of the four populations
                      identified, for the first time, significant associations
                      between CDKN2A (rs3731204) and BCL2 (rs4940571, rs12457371,
                      rs1026825) SNPs and CLL risk, with CDKN2A showing the
                      strongest association (p=1.57×10⁻¹²). We also validated
                      previously reported associations for FAS, BCL2, and BAK1
                      SNPs with CLL risk (p=4.73×10⁻²¹ to 3.39×10⁻⁹).
                      The CDKN2Ars3731204 and FASrs1926194 SNPs associated with
                      increased CDKN2A and ACTA2 mRNA expression levels in whole
                      blood and/or lymphocytes (p=5.1×10-7, p=1.58×10-21, and
                      p=7.8×10-41), although no significant effect on autophagy
                      flux was observed. However, associations were found between
                      CDKN2A, BCL2, and FAS SNPs and various T-cell subsets,
                      cytokine production, and circulating concentrations of IFNg,
                      TRAIL, CD40, CCL20, and IL2RB proteins (p≤0.005). No
                      significant association was detected between autophagy
                      variants and OS or TTFT, suggesting that these variants
                      drive disease initiation rather than progression. In
                      conclusion, this study identified four novel associations
                      for CLL and provided insights into the biological pathways
                      that influence CLL development.},
      cin          = {C055},
      ddc          = {610},
      cid          = {I:(DE-He78)C055-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40902075},
      doi          = {10.1182/bloodadvances.2025017345},
      url          = {https://inrepo02.dkfz.de/record/304302},
}