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Journal of Human Genetics

, Volume 49, Issue 5, pp 278–281 | Cite as

A novel susceptibility locus for moyamoya disease on chromosome 8q23

  • Kaoru Sakurai
  • Yasue Horiuchi
  • Hidetoshi Ikeda
  • Kiyonobu Ikezaki
  • Takashi Yoshimoto
  • Masashi Fukui
  • Tadao Arinami
Short Communication

Abstract

Moyamoya disease (MIM 252350) is characterized by stenosis or occlusion of the terminal portions of the bilateral internal carotid arteries and by abnormal vascular networks at the base of the brain. There is a high incidence of moyamoya disease in Asia, especially in Japan. Multifactorial inheritance is estimated with λs>40. Previous linkage studies have indicated that susceptibility loci for the disease are located on chromosomes 3p, 6q, and 17q. In the present study, we searched for loci linked to the disease in 12 Japanese families using 428 microsatellite markers and found significant evidence for linkage to 8q23 [maximum LOD score (MLS) of 3.6] and suggestive evidence for linkage to 12p12 (MLS=2.3). The present study revealed a novel locus for moyamoya disease.

Keywords

Moyamoya disease Linkage Carotid arteries Chromosome 8 Affected sib pairs 

Notes

Acknowledgements

This work was supported by a grant from the Research Committee on Spontaneous Occlusion of the Circle of Willis sponsored by the Ministry of Health, Labor and Welfare of Japan.

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Copyright information

© The Japan Society of Human Genetics and Springer-Verlag 2004

Authors and Affiliations

  • Kaoru Sakurai
    • 1
  • Yasue Horiuchi
    • 1
  • Hidetoshi Ikeda
    • 2
  • Kiyonobu Ikezaki
    • 3
  • Takashi Yoshimoto
    • 2
  • Masashi Fukui
    • 3
  • Tadao Arinami
    • 1
  1. 1.Department of Medical Genetics, Institute of Basic Medical SciencesUniversity of TsukubaTsukuba 305-8575Japan
  2. 2.Department of NeurosurgeryTohoku University Graduate School of MedicineSendaiJapan
  3. 3.Department of Neurosurgery, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan

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