Published in:
01-11-2011 | Original Paper
Age-specific eNOS polymorphisms in moyamoya disease
Authors:
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
Published in:
Child's Nervous System
|
Issue 11/2011
Login to get access
Abstract
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.