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@ARTICLE{Juraeva:137464,
      author       = {Juraeva, Dilafruz and Hänisch, Britta and Zapatka, Marc
                      and Frank, Josef and Investigators, GROUP and Group,
                      PSYCH-GEMS SCZ Working and Witt, Stephanie H and Mühleisen,
                      Thomas W and Treutlein, Jens and Strohmaier, Jana and Meier,
                      Sandra and Degenhardt, Franziska and Giegling, Ina and
                      Ripke, Stephan and Leber, Markus and Lange, Christoph and
                      Schulze, Thomas G and Mössner, Rainald and Nenadic, Igor
                      and Sauer, Heinrich and Rujescu, Dan and Maier, Wolfgang and
                      Børglum, Anders and Ophoff, Roel and Cichon, Sven and
                      Nöthen, Markus M and Rietschel, Marcella and Mattheisen,
                      Manuel and Brors, Benedikt and Kahn, René S and Cahn,
                      Wiepke and Linszen, Don H and de Haan, Lieuwe and van Os,
                      Jim and Krabbendam, Lydia and Myin-Germeys, Inez and
                      Wiersma, Durk and Bruggeman, Richard and Mors, O. and
                      Børglum, A. D. and Mortensen, P. B. and Pedersen, C. B. and
                      Demontis, D. and Grove, J. and Mattheisen, M. and Børglum,
                      A. D. and Mortensen, P. B. and Pedersen, C. B. and Hougaard,
                      D. M. and Demontis, D. and Grove, J. and Mattheisen, M. and
                      Børglum, A. D. and Grove, J. and Mattheisen, M. and
                      Mattheisen, M.},
      title        = {{I}ntegrated pathway-based approach identifies association
                      between genomic regions at {CTCF} and {CACNB}2 and
                      schizophrenia.},
      journal      = {PLoS Genetics},
      volume       = {10},
      number       = {6},
      issn         = {1553-7404},
      address      = {San Francisco, Calif.},
      publisher    = {Public Library of Science},
      reportid     = {DZNE-2020-03786},
      pages        = {e1004345},
      year         = {2014},
      abstract     = {In the present study, an integrated hierarchical approach
                      was applied to: (1) identify pathways associated with
                      susceptibility to schizophrenia; (2) detect genes that may
                      be potentially affected in these pathways since they contain
                      an associated polymorphism; and (3) annotate the functional
                      consequences of such single-nucleotide polymorphisms (SNPs)
                      in the affected genes or their regulatory regions. The
                      Global Test was applied to detect schizophrenia-associated
                      pathways using discovery and replication datasets comprising
                      5,040 and 5,082 individuals of European ancestry,
                      respectively. Information concerning functional gene-sets
                      was retrieved from the Kyoto Encyclopedia of Genes and
                      Genomes, Gene Ontology, and the Molecular Signatures
                      Database. Fourteen of the gene-sets or pathways identified
                      in the discovery dataset were confirmed in the replication
                      dataset. These include functional processes involved in
                      transcriptional regulation and gene expression, synapse
                      organization, cell adhesion, and apoptosis. For two genes,
                      i.e. CTCF and CACNB2, evidence for association with
                      schizophrenia was available (at the gene-level) in both the
                      discovery study and published data from the Psychiatric
                      Genomics Consortium schizophrenia study. Furthermore, these
                      genes mapped to four of the 14 presently identified
                      pathways. Several of the SNPs assigned to CTCF and CACNB2
                      have potential functional consequences, and a gene in close
                      proximity to CACNB2, i.e. ARL5B, was identified as a
                      potential gene of interest. Application of the present
                      hierarchical approach thus allowed: (1) identification of
                      novel biological gene-sets or pathways with potential
                      involvement in the etiology of schizophrenia, as well as
                      replication of these findings in an independent cohort; (2)
                      detection of genes of interest for future follow-up studies;
                      and (3) the highlighting of novel genes in previously
                      reported candidate regions for schizophrenia.},
      keywords     = {ADP-Ribosylation Factors: genetics / CCCTC-Binding Factor /
                      Calcium Channels, L-Type: genetics / Calcium Signaling:
                      genetics / Chromatin: metabolism / Genetic Predisposition to
                      Disease / Genome-Wide Association Study / Humans / Linkage
                      Disequilibrium / Membrane Transport Proteins: genetics /
                      Polymorphism, Single Nucleotide / Repressor Proteins:
                      genetics / Schizophrenia: genetics / Schizophrenia:
                      metabolism / CACNB2 protein, human (NLM Chemicals) /
                      CCCTC-Binding Factor (NLM Chemicals) / CTCF protein, human
                      (NLM Chemicals) / Calcium Channels, L-Type (NLM Chemicals) /
                      Chromatin (NLM Chemicals) / Membrane Transport Proteins (NLM
                      Chemicals) / Repressor Proteins (NLM Chemicals) / ARL5B
                      protein, human (NLM Chemicals) / ADP-Ribosylation Factors
                      (NLM Chemicals)},
      cin          = {U T4 Researchers - Bonn / AG Hänisch},
      ddc          = {610},
      cid          = {I:(DE-2719)7000008 / I:(DE-2719)1013010},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24901509},
      pmc          = {pmc:PMC4046913},
      doi          = {10.1371/journal.pgen.1004345},
      url          = {https://pub.dzne.de/record/137464},
}