Comprehensive genetic analysis for the patients with familial hypercholesterolemia

2015 Fiscal Year Final Research Report

• Project/Area Number: 26893094
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Cardiovascular medicine
• Research Institution: Kanazawa University
• Principal Investigator: TADA HAYATO 金沢大学, 大学病院, 助教 (90623653)
• Research Collaborator: Kathiresan Sekar 米国マサチューセッツ総合病院, ヒトゲノム研究所, 部長
• Project Period (FY): 2014-08-29 – 2016-03-31
• Keywords: 家族性高コレステロール血症 / エクソーム解析

Outline of Final Research Achievements

We identified a pathogenic mutation in LDL receptor gene, but could not lead to the identification of any novel genes. We conducted an international collaboration, collecting similar cases, leading to conclude that success rate of genetic analysis was ~20%. In addition, we identified a family with de novo mutation in LDL receptor gene, which, was the novel findings at least in the cases with familial hypercholesterolemia in an exome-wide manner.

Free Research Field

循環器内科