title: Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients.
abstract: BACKGROUND
  The etiology of Moyamoya disease (MMD) is still widely unknown. Several publications on Moyamoya describe differences of cytokine and growth factor concentrations in different specimen. We analyzed the DNA of patients with MMD for single nucleotide polymorphisms (SNPs) in and upstream of the genes for previously described associated cytokines and growth factors.
  
  
  METHODS
  Thirteen SNPs were genotyped in or upstream to four genes-basic fibroblast growth factor (BFGF), cellular retinoic acid-binding protein 1 (CRABP1), platelet derived growth factor receptor beta (PDGFRB), and transforming growth factor beta 1 (TGFB1)-comparing 40 DNA samples of MMD patients to 68 healthy controls from central Europe. Genotyping was performed by sequencing the SNP-containing genetic regions with custom made primers.
  
  
  RESULTS
  We found association of two SNPs: rs382861 [A/C] (p = 0.0373, OR = 1.81, 95% CI = 1.03-3.17) in the promoter region of PDGFRB and rs1800471[C/G] (p = 0.0345, OR = 7.65, 95% CI = 0.97-59.95), located in the first exon of TGFB1.
  
  
  CONCLUSIONS
  Our results indicate possible genetic risk factors for the genesis of MMD. TGFB1 and PDGFRB are involved in vascular growth and transformation processes which may play a role in the development of MMD. Further analyses in larger European cohorts and replication in patients of different ethnicity, as well as functional studies, may lead to possible early detection of patients at risk for developing MMD and subsequently to future preventive therapies.
authors.affiliation: Department of Neurosurgery, University of Tübingen, Germany.
authors.forename: Constantin
authors.initials: C
authors.lastname: Roder
authors.forename: Vera
authors.initials: V
authors.lastname: Peters
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Kasuya
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Nishizawa
authors.forename: Yayoi
authors.initials: Y
authors.lastname: Takehara
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
authors.forename: Claudia
authors.initials: C
authors.lastname: Schulte
authors.forename: Nadia
authors.initials: N
authors.lastname: Khan
authors.forename: Marcos
authors.initials: M
authors.lastname: Tatagiba
authors.forename: Boris
authors.initials: B
authors.lastname: Krischek
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; D020797:Receptor, Platelet-Derived Growth Factor beta