Single Nucleotide Polymorphism and Moyamoya Disease

  • Hyun-Seung Kang
  • Kyu-Chang Wang


Single nucleotide polymorphisms (SNPs) are unique genetic differences between individuals that can contribute to disease susceptibility. Although more than 12 million SNPs have been identified, most of them are not associated with disease susceptibility [1]. Moyamoya disease (MMD) is more common in Asian populations; however, we do not know the reason for this. Genetic studies using SNPs may provide the answer. For example, an SNP in the promoter region of the tissue inhibitor of metalloproteinase 2 gene (TIMP2) is related to the occurrence of familial MMD [2]. High-throughput SNP genotyping may be fruitful in this field of research.


Single Nucleotide Polymorphism Disease Susceptibility Moyamoya Disease Nonsynonymous SNPs Single Base Change 
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© Springer 2010

Authors and Affiliations

  1. 1.Department of NeurosurgerySeoul National University Hospital, Seoul National University College of MedicineJongno-guRepublic of Korea
  2. 2.Division of Pediatric Neurosurgery, Pediatric Clinical Neuroscience CenterSeoul National University Children's Hospital, Seoul National University College of MedicineJongno-guRepublic of Korea

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