Identification and functional analysis for molecule X via comprehensive genetic analysis

• Project/Area Number: 16K19394
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cardiovascular medicine
• Research Institution: Kanazawa University
• Principal Investigator: Tada Hayato 金沢大学, 附属病院, 助教 (90623653)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 家族性高コレステロール血症 / 網羅的遺伝子解析 / エクソーム解析

Outline of Final Research Achievements

We found that rare as well as deleterious mutations in genes known as causative genes for recessive lipid disorders were associated with increased LDL cholesterol level among Japanese patients with hyper LDL cholesterolemia.

Academic Significance and Societal Importance of the Research Achievements

本邦における高LDLコレステロール血症において、これまでの知見と比較し多彩な遺伝子異常が寄与することを見出した。従って、このような背景を検討するにあたっては、網羅的なスクリーニングシステムを使用する必要がある。

Research Products

• [Journal Article] Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia (2018)
  • Author(s): Tada Hayato、Nomura Akihiro、Nohara Atsushi、Inazu Akihiro、Mabuchi Hiroshi、Yamagishi Masakazu、Kawashiri Masa-aki
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 25 Issue: 12 Pages: 1188-1195
  • DOI: 10.5551/jat.44768
  • NAID: 130007539352
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2018-12-01
  • Peer Reviewed / Open Access
• [Journal Article] Aortic Root Calcification Score as an Independent Factor for Predicting Major Adverse Cardiac Events in Familial Hypercholesterolemia (2018)
  • Author(s): Okada H, Tada H, Hayashi K, Kawashima H, Takata T, Sakata K, Nohara A, Mabuchi H, Yamagishi M, Kawashiri MA
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 25 Issue: 7 Pages: 634-642
  • DOI: 10.5551/jat.42705
  • NAID: 130007386952
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2018-07-01
  • Peer Reviewed / Open Access
• [Journal Article] First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. (2018)
  • Author(s): Tada H, Nomura A, Yamagishi M, Kawashiri MA.
  • Journal Title: J Clin Lipidol. Volume: 12 Issue: 5 Pages: 1164-1168
  • DOI: 10.1016/j.jacl.2018.06.003
  • Peer Reviewed
• [Journal Article] Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol. (2018)
  • Author(s): Nomura A, Tada H, Okada H, Nohara A, Ishikawa H, Yoshimura K, Kawashiri MA.
  • Journal Title: BMJ Open. Volume: 8 Issue: 12 Pages: e023636-e023636
  • DOI: 10.1136/bmjopen-2018-023636
  • Peer Reviewed
• [Journal Article] Remnant-like particles and coronary artery disease in familial hypercholesterolemia (2018)
  • Author(s): Tada H, Kawashiri MA, Nohara A, Sakata K, Inazu A, Mabuchi H, Yamagishi M, Hayashi K
  • Journal Title: Clin Chim Acta Volume: 印刷中 Pages: 120-123
  • DOI: 10.1016/j.cca.2018.04.007
  • Peer Reviewed
• [Journal Article] Assessment of arterial stiffness in patients with familial hypercholesterolemia. (2018)
  • Author(s): Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H, Yamagishi M.
  • Journal Title: J Clin Lipidol. Volume: 12 Issue: 2 Pages: 397-402
  • DOI: 10.1016/j.jacl.2017.12.002
  • Peer Reviewed
• [Journal Article] Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. (2017)
  • Author(s): Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H, Yamagishi M.
  • Journal Title: Eur Heart J. Volume: - Issue: 20 Pages: 1573-1579
  • DOI: 10.1093/eurheartj/ehx004
  • Peer Reviewed / Open Access
• [Presentation] Impact of ABCG5/8 genetic variants on coronary heart disease (2019)
  • Author(s): 多田隼人
  • Organizer: 第83回日本循環器学会学術集会
• [Presentation] Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene (2018)
  • Author(s): 多田隼人
  • Organizer: AHA18
  • Int'l Joint Research
• [Presentation] Oligogenic Familial Hypercholesterolemia, LDL Cholesterol, and Coronary Artery Disease (2018)
  • Author(s): Tada H
  • Organizer: 第82回日本循環器学会学術集会
• [Presentation] Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia (2017)
  • Author(s): Tada H
  • Organizer: 第81回日本循環器学会学術集会
  • Place of Presentation: 金沢
  • Year and Date: 2017-03-17
• [Book] 高LDL-Cのプレシジョンメディシン (2018)
  • Author(s): 多田隼人
  • Total Pages: 7
  • Publisher: メディカルレビュー社
• [Patent(Industrial Property Rights)] 冠動脈疾患の罹患リスクの判定方法又は判定の補助方法 (2018)
  • Inventor(s): 多田 隼人
  • Industrial Property Rights Holder: 多田 隼人
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2018-023561
  • Filing Date: 2018