Age-specific eNOS polymorphisms in moyamoya disease
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : 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
- چاپ و سال / کشور: 2011
Description
Objective We conducted a case.control study to investigate whether polymorphisms in eNOS are related to the agespecific onset of moyamoya disease. Materials and methods Ninety-three Korean patients [mean age, 23.0پ}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, 27.7پ}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 adultonset moyamoya disease have different genetic backgrounds. These genetic differences can affect age-specific clinical characteristics, such as cerebral ischemia and hemorrhage.
Childs Nerv Syst DOI 10.1007/s00381-011-1504-z Received: 26 October 2010 / Accepted: 31 May 2011
