| Project/Area Number |
26460742
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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 |
Epidemiology and preventive medicine
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| Research Institution | Kanazawa University |
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Principal Investigator |
FUJINO Noboru 金沢大学, 保健学系, 准教授 (40361993)
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| Co-Investigator(Kenkyū-buntansha) |
林 研至 金沢大学, 附属病院, 助教 (00422642)
山岸 正和 金沢大学, 医学系, 教授 (70393238)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 肥大型心筋症 / 遺伝子解析 / 不整脈 / 突然死 / 心不全 / 収縮不全 / 次世代シーケンス / 倫理 |
|---|
| Outline of Final Research Achievements |
We could register 77 cases of hypertrophic cardiomyopathy (HCM). Whole exome sequencing (WES) was performed on seven relatives from a large HCM family with a clear HCM phenotype (five clinically affected and two unaffected) in our registry study. WES detected 60020 rare variants in the large HCM family. After genotype-phenotype matching, 13 putative variants remained. Using combined annotation dependent depletion (CADD) score and high heart expression (HHE) gene data, the number of candidates was reduced to one, a variant in the myosin essential light chain, p.Arg94His.
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