2016 Fiscal Year Final Research Report
Research of the factors to contribute to the onset and the prognosis of hypertrophic cardiomyopathy by the registration study
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 |
Section | 一般 |
Research Field |
Epidemiology and preventive medicine
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Research Institution | Kanazawa University |
Principal Investigator |
FUJINO Noboru 金沢大学, 保健学系, 准教授 (40361993)
|
Project Period (FY) |
2014-04-01 – 2017-03-31
|
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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Free Research Field |
心筋症
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