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@ARTICLE{SanchezJuan:137909,
      author       = {Sanchez-Juan, Pascual and Bishop, Matthew T and Kovacs,
                      Gabor G and Calero, Miguel and Aulchenko, Yurii S and
                      Ladogana, Anna and Boyd, Alison and Lewis, Victoria and
                      Ponto, Claudia and Calero, Olga and Poleggi, Anna and
                      Carracedo, Ángel and van der Lee, Sven J and Ströbel,
                      Thomas and Rivadeneira, Fernando and Hofman, Albert and
                      Haïk, Stéphane and Combarros, Onofre and Berciano, José
                      and Uitterlinden, Andre G and Collins, Steven J and Budka,
                      Herbert and Brandel, Jean-Philippe and Laplanche, Jean Louis
                      and Pocchiari, Maurizio and Zerr, Inga and Knight, Richard S
                      G and Will, Robert G and van Duijn, Cornelia M},
      title        = {{A} genome wide association study links glutamate receptor
                      pathway to sporadic {C}reutzfeldt-{J}akob disease risk.},
      journal      = {PLOS ONE},
      volume       = {10},
      number       = {4},
      issn         = {1932-6203},
      address      = {San Francisco, California, US},
      publisher    = {PLOS},
      reportid     = {DZNE-2020-04231},
      pages        = {e0123654},
      year         = {2014},
      abstract     = {We performed a genome-wide association (GWA) study in 434
                      sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939
                      controls from the United Kingdom, Germany and The
                      Netherlands. The findings were replicated in an independent
                      sample of 1109 sCJD and 2264 controls provided by a
                      multinational consortium. From the initial GWA analysis we
                      selected 23 SNPs for further genotyping in 1109 sCJD cases
                      from seven different countries. Five SNPs were significantly
                      associated with sCJD after correction for multiple testing.
                      Subsequently these five SNPs were genotyped in 2264
                      controls. The pooled analysis, including 1543 sCJD cases and
                      4203 controls, yielded two genome wide significant results:
                      rs6107516 (p-value=7.62x10-9) a variant tagging the prion
                      protein gene (PRNP); and rs6951643 (p-value=1.66x10-8)
                      tagging the Glutamate Receptor Metabotropic 8 gene (GRM8).
                      Next we analysed the data stratifying by country of origin
                      combining samples from the pooled analysis with genotypes
                      from the 1000 Genomes Project and imputed genotypes from the
                      Rotterdam Study (Total n=12967). The meta-analysis of the
                      results showed that rs6107516 (p-value=3.00x10-8) and
                      rs6951643 (p-value=3.91x10-5) remained as the two most
                      significantly associated SNPs. Rs6951643 is located in an
                      intronic region of GRM8, a gene that was additionally tagged
                      by a cluster of 12 SNPs within our top100 ranked results.
                      GRM8 encodes for mGluR8, a protein which belongs to the
                      metabotropic glutamate receptor family, recently shown to be
                      involved in the transduction of cellular signals triggered
                      by the prion protein. Pathway enrichment analyses performed
                      with both Ingenuity Pathway Analysis and ALIGATOR postulates
                      glutamate receptor signalling as one of the main pathways
                      associated with sCJD. In summary, we have detected GRM8 as a
                      novel, non-PRNP, genome-wide significant marker associated
                      with heightened disease risk, providing additional evidence
                      supporting a role of glutamate receptors in sCJD
                      pathogenesis.},
      keywords     = {Case-Control Studies / Creutzfeldt-Jakob Syndrome: genetics
                      / Genome-Wide Association Study: methods / Germany / Humans
                      / Netherlands / Polymorphism, Single Nucleotide / Prion
                      Proteins / Prions: genetics / Receptors, Metabotropic
                      Glutamate: genetics / Signal Transduction / United Kingdom /
                      PRNP protein, human (NLM Chemicals) / Prion Proteins (NLM
                      Chemicals) / Prions (NLM Chemicals) / Receptors,
                      Metabotropic Glutamate (NLM Chemicals) / metabotropic
                      glutamate receptor 8 (NLM Chemicals)},
      cin          = {AG Zerr},
      ddc          = {610},
      cid          = {I:(DE-2719)1440011-1},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25918841},
      pmc          = {pmc:PMC4412535},
      doi          = {10.1371/journal.pone.0123654},
      url          = {https://pub.dzne.de/record/137909},
}