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Age-specific eNOS polymorphisms in moyamoya disease.

Young Seok Park1, Kyung Tae Min, Tae-Gon Kim

  • 1Department of Neurosurgery, CHA University School of Medicine, Seongnam, South Korea.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|June 22, 2011
PubMed
Summary

Polymorphisms in endothelial nitric oxide synthase (eNOS) may influence moyamoya disease onset. The 4a4b sequence and A-4b-G haplotype were more common in adult moyamoya patients, suggesting different genetic backgrounds for pediatric and adult-onset disease.

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Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • Moyamoya disease is a rare cerebrovascular disorder characterized by progressive stenosis of the intracranial arteries.
  • The genetic factors contributing to the age-specific onset of moyamoya disease remain incompletely understood.

Purpose of the Study:

  • To investigate the association between endothelial nitric oxide synthase (eNOS) gene polymorphisms and the age-specific onset of moyamoya disease in a Korean population.

Main Methods:

  • A case-control study was conducted with 93 Korean moyamoya disease patients and 328 healthy controls.
  • Subjects were stratified into pediatric (<20 years) and adult (≥20 years) groups.
  • Frequencies of four eNOS polymorphisms (eNOS -922A>G, -786T>C, 4a4b, and 894G>T) and haplotype distributions were analyzed.

Main Results:

  • No significant differences in individual eNOS polymorphisms were found between moyamoya patients and controls.
  • The eNOS 4a4b polymorphism was less frequent in adult moyamoya patients compared to controls (p=0.029).
  • The A-4b-G haplotype was observed more frequently in adult moyamoya patients than in controls.

Conclusions:

  • Pediatric and adult-onset moyamoya disease may possess distinct genetic underpinnings.
  • These genetic variations could influence the clinical presentation, including the propensity for cerebral ischemia and hemorrhage at different ages.