Journal of Genetics

, Volume 92, Issue 3, pp 605–609 | Cite as

Genomewide association study identifies no major founder variant in Caucasian moyamoya disease

  • WANYANG LIU
  • S. T. M. L. D. SENEVIRATHNA
  • TOSHIAKI Hitomi
  • HATASU KOBAYASHI
  • CONSTANTIN RODER
  • ROMAN HERZIG
  • MARKUS KRAEMER
  • MAURITS H. J. VOORMOLEN
  • PAVLÍNA CAHOVÁ
  • BORIS KRISCHEK
  • AKIO KOIZUMI
Research Note

Keywords

Caucasian founder variant genomewide association study moyamoya disease suggestive association 

Supplementary material

12041_2013_304_MOESM1_ESM.pdf (694 kb)
(PDF 694 KB)

References

  1. Fukuda M. and Kuroda T. S. 2002 Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin. J. Biol. Chem. 277, 43096–43103.PubMedCrossRefGoogle Scholar
  2. Goto Y. and Yonekawa Y. 1992 Worldwide distribution of moyamoya disease. Neurol. Med. Chir. (Tokyo) 32, 883–886.CrossRefGoogle Scholar
  3. Guo D. C., Papke C. L., Tran-Fadulu V., Regalado E. S., Avidan N., Johnson R. J. et al. 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am. J. Hum. Genet. 84, 617–627.PubMedCentralPubMedCrossRefGoogle Scholar
  4. Kuroda S. and Houkin K. 2008 Moyamoya disease: current concepts and future perspectives. Lancet Neurol. 7, 1056–1066.PubMedCrossRefGoogle Scholar
  5. Liu W., Hashikata H., Inoue K., Matsuura N., Mineharu Y., Kobayashi H. et al. 2010 A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians. Environ. Health Prev. Med. 15, 94–104.PubMedCentralPubMedCrossRefGoogle Scholar
  6. Liu W., Morito D., Takashima S., Mineharu Y., Kobayashi H., Hitomi T. et al. 2011 Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6, e22542.CrossRefGoogle Scholar
  7. Liu W., Harada K. H., Hitomi T., Kobayashi H. and Koizumi A. 2012 Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations. Neurol. Med. Chir. (Tokyo) 52, 299–303.Google Scholar
  8. Miyatake S., Miyake N., Touho H., Nishimura-Tadaki A., Kondo Y., Okada I. et al. 2012 Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 78, 803–810.PubMedCrossRefGoogle Scholar
  9. Roder C., Peters V., Kasuya H., Nishizawa T., Wakita S., Berg D. et al. 2011 Analysis of ACTA2 in European Moyamoya disease patients. Eur. J. Paediatr. Neurol. 15, 117–122.PubMedCrossRefGoogle Scholar
  10. Shimojima K. and Yamamoto T. 2009 ACTA2 is not a major disease-causing gene for moyamoya disease. J. Hum. Genet. 54, 687–688.PubMedCrossRefGoogle Scholar
  11. Suzuki J. and Takaku A. 1969 Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch. Neurol. 20, 288–299.PubMedCrossRefGoogle Scholar
  12. Takeuchi K. and Shimizu K. 1957 Hypogenesis of bilateral internal carotid arteries. Brain Nerve 9, 37–43.Google Scholar
  13. Wu Z., Jiang H., Zhang L., Xu X., Zhang X., Kang Z. et al. 2012 Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS One 7, e48179.CrossRefGoogle Scholar

Copyright information

© Indian Academy of Sciences 2013

Authors and Affiliations

  • WANYANG LIU
    • 1
    • 7
  • S. T. M. L. D. SENEVIRATHNA
    • 1
  • TOSHIAKI Hitomi
    • 1
  • HATASU KOBAYASHI
    • 1
  • CONSTANTIN RODER
    • 2
  • ROMAN HERZIG
    • 3
  • MARKUS KRAEMER
    • 4
  • MAURITS H. J. VOORMOLEN
    • 5
  • PAVLÍNA CAHOVÁ
    • 6
  • BORIS KRISCHEK
    • 2
  • AKIO KOIZUMI
    • 1
  1. 1.Department of Health and Environmental SciencesKyoto University Graduate School of MedicineKyotoJapan
  2. 2.Department of NeurosurgeryUniversity of TübingenTübingenGermany
  3. 3.Stroke Comprehensive Center, Department of Neurology, Faculty of Medicine and DentistryPalacký University and University HospitalOlomoucCzech Republic
  4. 4.Department of NeurologyAlfried-Krupp-von Bohlen und Halbach HospitalEssenGermany
  5. 5.Department of RadiologyAntwerp University Hospital and University of AntwerpEdegemBelgium
  6. 6.Department of Child NeurologyUniversity HospitalBrnoCzech Republic
  7. 7.Department of Nutrition and Food Hygiene, School of Public HealthChina Medical UniversityShenyangPeople’s Republic of China

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