Single Nucleotide Polymorphism and Moyamoya Disease
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 . 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 . High-throughput SNP genotyping may be fruitful in this field of research.
KeywordsSingle Nucleotide Polymorphism Disease Susceptibility Moyamoya Disease Nonsynonymous SNPs Single Base Change
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