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@ARTICLE{Baranasic:276784,
      author       = {J. Baranasic and Y. Niazi$^*$ and S. Chattopadhyay$^*$ and
                      L. Rumora and L. Ćorak and A. V. Dugac and M. Jakopović
                      and M. Samaržija and A. Försti$^*$ and J. Knežević},
      title        = {{G}ermline variants of the genes involved in {NF}-k{B}
                      activation are associated with the risk of {COPD} and lung
                      cancer development.},
      journal      = {Acta pharmaceutica},
      volume       = {73},
      number       = {2},
      issn         = {1330-0075},
      address      = {Warsaw},
      publisher    = {Sciendo},
      reportid     = {DKFZ-2023-01159},
      pages        = {243 - 256},
      year         = {2023},
      note         = {#EA:B062#},
      abstract     = {Chronic obstructive pulmonary disease (COPD) and lung
                      cancer (LC) are closely related diseases associated with
                      smoking history and dysregulated immune response. However,
                      not all smokers develop the disease, indicating that genetic
                      susceptibility could be important. Therefore, the aim of
                      this study was to search for the potential overlapping
                      genetic biomarkers, with a focus on single nucleotide
                      polymorphisms (SNPs) located in the regulatory regions of
                      immune-related genes. Additionally, the aim was to see if an
                      identified SNP has potentially an effect on proinflamma-tory
                      cytokine concentration in the serum of COPD patients. We
                      extracted summary data of variants in 1511 immune-related
                      genes from COPD and LC genome-wide association studies
                      (GWAS) from the UK Biobank. The LC data had 203 cases,
                      patients diagnosed with LC, and 360 938 controls, while COPD
                      data had 1 897 cases and 359 297 controls. Assuming 1
                      association/gene, SNPs with a p-value < 3.3 × 10-5 were
                      considered statistically significantly associated with the
                      disease. We identified seven SNPs located in different genes
                      (BAG6, BTNL2, TNF, HCP5, MICB, NCR3, ABCF1, TCF7L1) to be
                      associated with the COPD risk and two with the LC risk
                      (HLA-C, HLA-B), with statistical significance. We also
                      identified two SNPs located in the IL2RA gene associated
                      with LC (rs2386841; p = 1.86 × 10-4) and COPD (rs11256442;
                      p = 9.79 × 10-3) but with lower significance. Functional
                      studies conducted on COPD patients showed that RNA
                      expression of IL2RA, IFNγ and related proinflammatory
                      cytokines in blood serum did not correlate with a specific
                      genotype. Although results presented in this study do not
                      fully support our hypothesis, it is worth to mention that
                      the identified genes/SNPs that were associated with either
                      COPD or LC risk, all were involved in the activation of the
                      NF-κB transcription factor which is closely related to the
                      regulation of the inflammatory response, a condition
                      associated with both pathologies.},
      keywords     = {COPD (Other) / GWAS (Other) / NF-κB (Other) / SNP (Other)
                      / immune-related genes (Other) / lung cancer (Other)},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {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:37307368},
      doi          = {10.2478/acph-2023-0019},
      url          = {https://inrepo02.dkfz.de/record/276784},
}