Research of the factors to contribute to the onset and the prognosis of hypertrophic cardiomyopathy by the registration study

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460742
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Epidemiology and preventive medicine
• 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.

Free Research Field

心筋症