Age-specific eNOS polymorphisms in moyamoya disease

Young Seok Park, Kyung Tae Min, Tae Gon Kim, Yun Ho Lee, Hee-Jin Cheong, In Sun Yeom, Joong Uhn Choi, Dong Seok Kim, Nam Keun Kim

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Objective: We conducted a case-control study to investigate whether polymorphisms in eNOS are related to the age-specific onset of moyamoya disease. Materials and methods: Ninety-three Korean patients [mean age, 23.0±16.1 years; 59 female (63.4%) and 34 male (36.6%)] with moyamoya disease were consecutively recruited for this study. Three hundred twenty-eight healthy subjects [mean age, 27.7±16.2 years; 217 female (66.2%), 111 male (33.8%)] were consecutively included in the control group. The subjects were divided into pediatric (<20 years) and adult (≥20 years) groups. We further divided the moyamoya group into ischemic and hemorrhagic groups based on clinical and MRI findings. The frequencies and distributions of four eNOS polymorphisms (eNOS -922A>G, -786T>C, 4a4b, and 894G>T) were assessed in pediatric and adult patients with moyamoya disease and compared to the frequencies and distribution in the control group. Results: No differences in eNOS polymorphisms were observed between control and moyamoya disease group. However, we found that the 4a4b sequences was less frequent in the adult group (p=0.029). Compared to the control group, there were differences in the haplotype distribution of the study group, specifically the A-4b-G haplotype, which was seen more frequently in the adult patient group. Conclusion: Our results suggest that pediatric and adult-onset moyamoya disease have different genetic backgrounds. These genetic differences can affect age-specific clinical characteristics, such as cerebral ischemia and hemorrhage.

Original languageEnglish
Pages (from-to)1919-1926
Number of pages8
JournalChild's Nervous System
Issue number11
Publication statusPublished - 2011 Nov 1
Externally publishedYes



  • eNOS
  • Moyamoya disease
  • Nitric oxide
  • Polymorphism

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Park, Y. S., Min, K. T., Kim, T. G., Lee, Y. H., Cheong, H-J., Yeom, I. S., Choi, J. U., Kim, D. S., & Kim, N. K. (2011). Age-specific eNOS polymorphisms in moyamoya disease. Child's Nervous System, 27(11), 1919-1926.