Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients

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• 作者：Constantin Roder (1)
  Vera Peters (1)
  Hidetoshi Kasuya (2)
  Tsutomu Nishizawa (3)
  Yayoi Takehara (3)
  Daniela Berg (4)
  Claudia Schulte (4)
  Nadia Khan (5)
  Marcos Tatagiba (1)
  Boris Krischek (1)
  
• 关键词：Genetics ; Growth factors ; Moyamoya disease ; PDGFRB ; Single nucleotide polymorphism ; TGFB1
• 刊名：Acta Neurochirurgica
• 出版年：2010
• 出版时间：December 2010
• 年：2010
• 卷：152
• 期：12
• 页码：2153-2160
• 全文大小：216KB
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• 作者单位：Constantin Roder (1)
  Vera Peters (1)
  Hidetoshi Kasuya (2)
  Tsutomu Nishizawa (3)
  Yayoi Takehara (3)
  Daniela Berg (4)
  Claudia Schulte (4)
  Nadia Khan (5)
  Marcos Tatagiba (1)
  Boris Krischek (1)
  
  1. Department of Neurosurgery, University of Tübingen, Hoppe-Seyler-Str.3, 72076, Tübingen, Germany
  2. Division of Neurosurgery, Medical Center East, Tokyo Women’s Medical University, Tokyo, Japan
  3. International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women’s Medical University, Tokyo, Japan
  4. Department of Neurodegeneration, Hertie-Institute of Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany
  5. Department of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, CA, USA
  

文摘

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. Method Thirteen SNPs were genotyped in or upstream to four genes-em class="a-plus-plus">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)-/em>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. Findings We found association of two SNPs: rs382861 [A/C] (p--.0373, OR--.81, 95% CI--.03-.17) in the promoter region of PDGFRB and rs1800471[C/G] (p--.0345, OR--.65, 95% CI--.97-9.95), located in the first exon of TGFB1. Conclusion 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.