Development and clinical application of a novel method for identifying genes related to cardiovascular diseases
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 |
|
Project Period (FY) |
2016-04-01 – 2018-03-31
|
Project Status |
Completed (Fiscal Year 2017)
|
Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
|
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 / 臨床 / 心臓 / ゲノム / 遺伝学 |
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.
|
Report
(3 results)
Research Products
(22 results)
-
-
[Journal Article] Barth syndrome: Different approaches to diagnosis2018
Author(s)
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, & Okazaki Y
-
Journal Title
Journal of Pediatrics
Volume: 193
Pages: 256-260
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
[Journal Article] Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein2017
Author(s)
Yamamoto S, Kaimori J, Yoshimura T, Namba T, Imai A, Kobayashi K, Imamura R, Ichimaru N, Kato K, Nakaya A, Takahara S, & Isaka Y
-
Journal Title
Nephrology Dialysis Transplantation
Volume: 32
Issue: 12
Pages: 2010-2007
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms2017
Author(s)
Kondo H, Maksimova N, Otomo T*,Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K Sakai N*
-
Journal Title
Human Molecular Genetics
Volume: 26
Pages: 173-183
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
-
-
[Journal Article] Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy2016
Author(s)
Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y
-
Journal Title
International Journal of Cardiology
Volume: 221
Pages: 446-449
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
-
-
-
[Presentation] Genetic analysis of mitochondrial disorder2017
Author(s)
Kohda M, Kishita Y, Mizuno Y, Imai A, Nakaya A, Hirata T, Yatsuka Y, Borna NN, Harashima H, Murayama K, Ohtake A, Okazaki Y
Organizer
第5回生命医薬情報学連合大会
Related Report
-
-
[Presentation] Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency2016
Author(s)
Atsuko Imai, Yoshihito Kishita, Yuko Nakayama, Shuhei Fujita, Takeshi Futatani, Masakazu Kohda, Yukiko Yatsuka, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Organizer
第13回アジアミトコンドリア学会
Place of Presentation
TKPガーデンシティ品川(東京都港区)
Year and Date
2016-10-30
Related Report
Int'l Joint Research
-
[Presentation] 進行性の乳児心筋症における ミトコンドリアDNA変異同定およびATP合成酵素欠損の証明2016
Author(s)
今井 敦子, 藤田 修平, 木下 善仁, 神田 将和, 八塚 由紀子, 中山 祐子, 二谷 武, 平田 智子, 水野 洋介, 原嶋 宏子, 中谷 明弘, 坂田 泰史, 武田 充人, 森 雅人, 村山 圭, 大竹 明, 岡崎 康司
Organizer
第25回日本小児心筋疾患学会
Place of Presentation
東京都医師会館(東京都千代田区)
Year and Date
2016-10-08
Related Report
-
-
-
-
-
-
-