Development and clinical application of a novel method for identifying genes related to cardiovascular diseases

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K19404
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cardiovascular medicine
• Research Institution: Osaka University
• Principal Investigator: Imai-Okazaki Atsuko (今井敦子) 大阪大学, 医学系研究科, 特任助教(常勤) (70761691)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 遺伝性心疾患 / 遺伝統計解析 / 原因遺伝子同定 / 染色体欠失同定 / エクソーム解析 / 全ゲノム解析

Outline of Final Research Achievements

To detect causative genes related to cardiovascular disease, linkage analysis has conventionally been used. However, linkage analysis is underpowered in small families as often seen in clinical settings. We therefore developed a novel method for identifying genes, where DNA differences between a patient and unrelated healthy individuals around candidate genes are measured by the Hamming Distance Ratio (HDR). We further developed the HDR method to detect causative genes with various modes of inheritance and chromosomal deletions and succeeded in releasing software as a novel analysis tool for gene identification. As a clinical application of this tool, novel genes related to cardiovascular diseases have been identified.

Free Research Field

臨床ゲノム医学