지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 486 - 491 (6page)
이용수
초록· 키워드
오류제보하기
Objective : Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability, and the importance of structural variants in modulating susceptibility is increasingly being recognized. CNV can change biological function and contribute to pathophysiological conditions of human disease. Its relationship with common, complex human disease in particular is not fully understood. Here, we searched the human genome to identify copy number variants that predispose to moya-moya type cerebrovascular disease. Methods : We retrospectively analyzed patients who had unilateral or bilateral steno-occlusive lesions at the cerebral artery from March, 2007, to September, 2009. For the 20 subjects, including patients with moyamoya type pathologies and three normal healthy controls, we divided the subjects into 4 groups : typical moyamoya (n=6), unilateral moyamoya (n=9), progression unilateral to typical moyamoya (n=2) and non-moyamoya (n=3). Fragmented DNA was hybridized on Human610Quad v1.0 DNA analysis BeadChips (Illumina). Data analysis was performed with GenomeStudio v2009.1, Genotyping 1.1.9, cnvPartition_v2.3.4 software. Overall call rates were more than 99.8%. Results : In total, 1258 CNVs were identified across the whole genome. The average number of CNV was 45.55 per subject (CNV region was 45.4). The gain/loss of CNV was 52/249, having 4.7 fold higher frequencies in loss calls. The total CNV size was 904,657,868, and average size was 993,038. The largest portion of CNVs (613 calls) were 1M-10M in length. Interestingly, significant association between unilateral moyamoya disease (MMD) and progression of unilateral to typical moyamoya was observed. Conclusion : Significant association between unilateral MMD and progression of unilateral to typical moyamoya was observed. The finding was confirmed again with clustering analysis. These data demonstrate that certain CNV associate with moyamoya-type cerebrovascular disease.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Berger J / 2001 / Genetic mapping with SNP markers in Drosophila / Nat Genet 29:475~481
최무림 / 200812 / Susceptibility loci for intracranial aneurysm in European and Japanese populations / NATURE GENETICS 40(12):1472~1477
Foroud T / 2008 / Genome screen to detect linkage to intracranial aneurysm susceptibility genes : the Familial Intracranial Aneurysm (FIA) study / Stroke 39:1434~1440
Hallemeier CL / 2006 / Clinical features and outcome in North American adults with moyamoya phenomenon / Stroke 37:1490~1496
Hirotsune N / 1997 / Long-term follow-up study of patients with unilateral moyamoya disease / Clin Neurol Neurosurg 99(2):178~181
최무림 / 200812 / Susceptibility loci for intracranial aneurysm in European and Japanese populations / NATURE GENETICS 40(12):1472~1477
Foroud T / 2008 / Genome screen to detect linkage to intracranial aneurysm susceptibility genes : the Familial Intracranial Aneurysm (FIA) study / Stroke 39:1434~1440
Hallemeier CL / 2006 / Clinical features and outcome in North American adults with moyamoya phenomenon / Stroke 37:1490~1496
Hirotsune N / 1997 / Long-term follow-up study of patients with unilateral moyamoya disease / Clin Neurol Neurosurg 99(2):178~181
이 논문의 저자 정보
최근 본 자료
댓글(0)
0