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@ARTICLE{Roder:136164,
      author       = {Roder, Constantin and Peters, Vera and Kasuya, Hidetoshi
                      and Nishizawa, Tsutomu and Takehara, Yayoi and Berg, Daniela
                      and Schulte, Claudia and Khan, Nadia and Tatagiba, Marcos
                      and Krischek, Boris},
      title        = {{C}ommon genetic polymorphisms in moyamoya and
                      atherosclerotic disease in {E}uropeans.},
      journal      = {Zeitschrift für Urheber- und Medienrecht /
                      Rechtsprechungsdienst},
      volume       = {27},
      number       = {2},
      issn         = {0256-7040},
      address      = {München},
      publisher    = {Beck65642},
      reportid     = {DZNE-2020-02486},
      pages        = {245-252},
      year         = {2011},
      abstract     = {Moyamoya is the most common cerebrovascular disease in
                      children in Japan. The disease's etiology is still widely
                      unknown. Several publications describe histopathological
                      changes in the walls of affected vessels similar to those
                      seen in atherosclerosis. In this study, we analyzed the DNA
                      of European patients with Moyamoya disease for single
                      nucleotide polymorphisms associated with atherosclerotic
                      changes.We genotyped 17 SNPs in or adjacent to 11 genes
                      (ELN, LIMK1, CDKN2A/B, CXCL12, Pseudogene ENSG00000197218,
                      PSRC1, MTHFD1L, SMAD3, MIA3, PDGF-B, TIMP2) comparing 40 DNA
                      samples of Moyamoya disease patients to 68 healthy controls
                      from central Europe. The mean age of onset of Moyamoya
                      disease (MMD)-related symptoms was 15.4 years of age.
                      Genotyping was performed by sequencing the SNP containing
                      genetic regions with custom-made primers.We found strong
                      association of one SNP (rs599839 [A/G], OR = 2.17,
                      $95\%$ CI = 1.17, 4.05; p = 0.01) with the risk
                      allele G located in the 3' UTR region of the PSRC-1 gene.
                      Three further SNPs (rs8326, rs34208922, rs501120) in or
                      adjacent to the genes ELN and CXCL12 showed tendencies
                      towards risk alleles with p values between 0.1 and 0.2 but
                      did not reach statistical significance in our cohort.Our
                      results indicate a possible parallel of common processes in
                      the genesis of Moyamoya disease and atherosclerotic disease.
                      Further analyses in larger European cohorts and replication
                      in patients of different ethnicity may lead to possible
                      early detection of patients at risk for developing MMD and
                      subsequently to future causative therapies.},
      keywords     = {Adolescent / Adult / Atherosclerosis: genetics / Europe /
                      European Continental Ancestry Group: genetics / Female /
                      Genetic Predisposition to Disease / Genotype / Humans / Male
                      / Moyamoya Disease: genetics / Polymorphism, Single
                      Nucleotide / Young Adult},
      cin          = {AG Gasser 1},
      ddc          = {340},
      cid          = {I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:20694560},
      doi          = {10.1007/s00381-010-1241-8},
      url          = {https://pub.dzne.de/record/136164},
}