2013 Fiscal Year Final Research Report
Genetic analysis of familial moyamoya disease using next generation sequencer
| Project/Area Number |
23592109
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Cerebral neurosurgery
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
ONDA HIDEAKI 東京女子医科大学, 医学部, 非常勤講師 (60185692)
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| Co-Investigator(Kenkyū-buntansha) |
KASUYA Hidetoshi 東京女子医科大学, 医学部, 教授 (50169455)
AKAGAWA Hiroyuki 東京女子医科大学, 医学部, テニュアトラック准教授 (60398807)
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| Co-Investigator(Renkei-kenkyūsha) |
NARIAI Tadashi 東京医科歯科大学, 医学部附属病院, 講師 (00228090)
MUKAWA Maki 東京医科歯科大学, 医学部附属病院, 医員 (90463918)
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| Project Period (FY) |
2011 – 2013
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| Keywords | もやもや病 / 遺伝解析 / 次世代シーケンサー / RNF213 / ハプロタイプ / ターゲットリシーケンス |
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| Research Abstract |
Recently, some papers reported a strong association between moyamoya disease and a R4810K variant in RNF213 gene. However, pathophysiological mechanism of the variant is not entirely clear. The variant might be a surrogate genetic marker and we hypothesized that there exists an actual causal variant in linkage disequilibrium with it. We conducted target re-sequencing a region occupying 1.5Mb of DNA around the R4810K variant of five moyamoya disease patients with homozygous R4810K alleles. As a result, stronger association was detected with the haplotype composed of adjacent ENDOV gene and the telomeric region (p=8.36 x 10-13) than with the R4810K variant. ENDOV and BC033347 unknown gene with 5' transcription regulatory elements are mapping in this haplotype region and it was suggested that there was actual functional variant within this haplotype.
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