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

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


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
Externally publishedYes


  • Moyamoya disease
  • Nitric oxide
  • Polymorphism
  • eNOS

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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