HLA Studies in Moyamoya Disease


Although the pathogenesis of moyamoya disease (MMD) is still unclear [1], several pieces of evidence suggest the involvement of genetic factors in this disease [2]. Over 10% of MMD patients have affected blood relatives, and concordance in the affection status has been proven in 80% of identical twins. Moreover, there is an ethnic predisposition to MMD, the incidence of the disease being the highest in East Asian populations, such as Japanese and Koreans. Data from an epidemiological study of familial MMD have suggested that MMD is probably inherited in a polygenic or autosomal dominant mode with a low penetrance [3]. Microsatellite linkage analysis has identified genetic loci that are associated with MMD on chromosomes 3, 6, 8, and 17 [4–8]. However, the relevant genes have not so far been identified [1, 8].


Major Histocompatibility Complex Human Leukocyte Antigen Human Leukocyte Antigen Class Disease Association Moyamoya Disease 
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Copyright information

© Springer 2010

Authors and Affiliations

  • Myoung Hee Park
    • 1
  • Seok Ho Hong
    • 2
  • Kyu-Chang Wang
    • 3
  1. 1.Department of Laboratory MedicineSeoul National University College of MedicineSeoulRepublic of Korea
  2. 2.Department of Neurosurgery, Asan Medical CenterUniversity of Ulsan College of MedicineSeoulRepublic of Korea
  3. 3.Division of Pediatric Neurosurgery, Pediatric Clinical Neuroscience CenterSeoul National University Children's Hospital, Seoul National University College of MedicineSeoulRepublic of Korea

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