gms | German Medical Science

61st Annual Meeting of the German Society of Neurosurgery (DGNC) as part of the Neurowoche 2010
Joint Meeting with the Brazilian Society of Neurosurgery on the 20 September 2010

German Society of Neurosurgery (DGNC)

21 - 25 September 2010, Mannheim

Polymorphisms in TGFB1 and PDGFR are associated with moyamoya disease in European patients

Meeting Abstract

  • Boris Krischek - Department of Neurosurgery, University of Tübingen, Germany
  • Constantin Roder - Department of Neurosurgery, University of Tübingen, Germany
  • Vera Peters - Department of Neurosurgery, University of Tübingen, Germany
  • Hidetoshi Kasuya - Division of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan
  • Tsutomu Nishizawa - International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan
  • Yayoi Takehara - International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan
  • Daniela Berg - Center of Neurology, Department of Neurodegeneration, University of Tübingen, Germany
  • Claudia Schulte - The Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Germany
  • Günther Feigl - Department of Neurosurgery, University of Tübingen, Germany
  • Nadia Khan - Department of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, CA, USA
  • Marcos Tatagiba - Department of Neurosurgery, University of Tübingen, Germany

Deutsche Gesellschaft für Neurochirurgie. 61. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC) im Rahmen der Neurowoche 2010. Mannheim, 21.-25.09.2010. Düsseldorf: German Medical Science GMS Publishing House; 2010. DocV1527

DOI: 10.3205/10dgnc004, URN: urn:nbn:de:0183-10dgnc0040

Published: September 16, 2010

© 2010 Krischek et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

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Objective: The etiology of Moyamoya disease 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 Moyamoya disease for single nucleotide polymorphisms in and upstream of the genes for previously described associated cytokines and growth factors.

Methods: 13 SNPs were genotyped in or upstream to 4 genes (bFGF, CRABP1, PDGFRB, TGFB1) comparing 40 DNA samples of Moyamoya disease 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 PDGFR 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 Moyamoya disease. TGFB1 and PDGF(R) are involved in vascular growth and transformation processes which may play a role in the development of Moyamoya disease. 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.