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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

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Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans

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  • 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. DocP1835

doi: 10.3205/10dgnc306, urn:nbn:de:0183-10dgnc3061

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 describe histopathological changes in the walls of affected vessels similar to those seen in atherosclerosis. In this study, we analyzed the DNA of patients with Moyamoya disease for single nucleotide polymorphisms associated with atherosclerotic changes.

Methods: 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. Genotyping was performed by sequencing the SNP containing genetic regions with custom made primers.

Results: 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, LIMK1 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.

Conclusions: 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.