Literature DB >> 21691823

Age-specific eNOS polymorphisms in moyamoya disease.

Young Seok Park1, Kyung Tae Min, Tae-Gon Kim, Yun Ho Lee, Hee Jin Cheong, In Sun Yeom, Joong-Uhn Choi, Dong-Seok Kim, Nam Keun Kim.   

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.

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Year:  2011        PMID: 21691823     DOI: 10.1007/s00381-011-1504-z

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


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