Genetic Analysis of Familial Hypercholesterolemia using Whole-exome Sequence

• Project/Area Number: 19K08553
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 53020:Cardiology-related
• Research Institution: Kanazawa University
• Principal Investigator: KAWASHIRI MASAAKI 金沢大学, 医学系, 准教授 (90345637)
• Co-Investigator(Kenkyū-buntansha): 下島 正也 金沢大学, 附属病院, 特任助教 (00613754) ; 多田 隼人 金沢大学, 附属病院, 助教 (90623653)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Project Status: Completed (Fiscal Year 2021)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2021: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2020: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2019: ¥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 / 遺伝子多型

Outline of Research at the Start

家族性高コレステロール血症（FH）の診断率が低いことが臨床的に問題となっている。遺伝子診断はFHの確定に極めて有用であるが、FH関連遺伝子を網羅的に解析しても確定診断に至る症例は80％に満たず、残る症例の遺伝的背景は不明である。FHの未知の原因遺伝子が存在する可能性がある一方、近年「Polygenic FH」という疾患概念が定着している。本研究では、次世代シーケンサーとiPS細胞を用いたFHの未知の原因遺伝子の探索と、本邦「Polygenic FH」の病態生理、候補遺伝子、臨床的特徴を解明する。最終的に、FH全例の遺伝子診断を可能とし、本邦のFH診断率の向上と若年心血管死予防の礎とする。

Outline of Final Research Achievements

Familial hypercholesterolemia (FH) is used to be recognized as a simple autosomal dominant monogenic dosorder caused by low-density lipoprotein receptor gene mutation. Recently, it has been recognized the pathophysiology of polygenic FH; an accumulation of common small-effect-sized variants in a single individual.
We recruited and genotyped clinically diagnosed FH (CDFH) patients from the Kanazawa University FH registry and controls from the Shikamachi Health Improvement Practice genome cohort. We calculated PRS from 3.6 million variants of each participant for LDL-C (PRSLDLC) using a genome-wide association study summary statistic from the BioBank Japan Project. We tested a total of 1223 participants for the analyses. PRSLDLC was significantly higher in mutation negative CDFH patients than in controls. PRSLDLC was also significantly linked to LDL-C in controls but not in FH patients. However, PRSLDLC may have little additional effect on LDL-C and CAD among FH patients.

Academic Significance and Societal Importance of the Research Achievements

家族性高コレステロール血症（FH）は従来、低比重リポ蛋白受容体遺伝子変異を主な原因とする単純な優（顕）性遺伝性疾患であると考えられていた。しかしながら、臨床的にFHと診断される症例の1/3～1/4の原因遺伝子を同定できないことが知られている。これらの集団の中に「多遺伝子FH」が存在するとの発想から研究を開始した。しかしながら、多遺伝子リスクスコアはLDL-C値と有意に相関したものの、冠動脈疾患と相関せず、多遺伝子FHと診断できる症例もなかった。原因遺伝子を同定できないFHの発症には、今回の検討で明確にできなかった遺伝的背景か環境因子が影響している可能性が考えられた。

Research Products

• [Journal Article] Effect of Cumulative Exposure to Low-Density Lipoprotein-Cholesterol on Cardiovascular Events in Patients With Familial Hypercholesterolemia (2021)
  • Author(s): Tada H, Okada H, Nohara A, Yamagishi M, Takamura M, Kawashiri MA.
  • Journal Title: Circulation Journal Volume: 85 Issue: 11 Pages: 2073-2078
  • DOI: 10.1253/circj.CJ-21-0193
  • NAID: 130008107901
  • ISSN: 1346-9843, 1347-4820
  • Year and Date: 2021-10-25
  • Peer Reviewed
• [Journal Article] Diagnosis and Management of Sitosterolemia 2021 (2021)
  • Author(s): Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, Tsukamoto K, Dobashi K, Nakamura K, Hori M, Matsuki K, Yamashita S, Yokoyama S, Kawashiri MA, Harada-Shiba M.
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 28 Issue: 8 Pages: 791-801
  • DOI: 10.5551/jat.RV17052
  • NAID: 130008070338
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2021-08-01
  • Peer Reviewed / Open Access
• [Journal Article] Clinical Diagnostic Criteria of Familial Hypercholesterolemia ― A Comparison of the Japan Atherosclerosis Society and Dutch Lipid Clinic Network Criteria ― (2021)
  • Author(s): Tada H, Okada H, Nomura A, Usui S, Sakata K, Nohara A, Yamagishi M, Takamura M, Kawashiri MA
  • Journal Title: Circulation Journal Volume: 85 Issue: 6 Pages: 891-897
  • DOI: 10.1253/circj.CJ-20-0901
  • NAID: 130008043212
  • ISSN: 1346-9843, 1347-4820
  • Year and Date: 2021-05-25
  • Peer Reviewed
• [Journal Article] Challenges of Precision Medicine for Atherosclerotic Cardiovascular Disease Based on Human Genome Information (2021)
  • Author(s): Tada H, Usui S, Sakata K, Takamura M, Kawashiri MA.
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 28 Issue: 4 Pages: 305-313
  • DOI: 10.5551/jat.60087
  • NAID: 130008014043
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2021-04-01
  • Peer Reviewed / Open Access
• [Journal Article] Myocyte-specific enhancer factor 2c triggers transdifferentiation of adipose tissue-derived stromal cells into spontaneously beating cardiomyocyte-like cells (2021)
  • Author(s): Takashima Shinichiro、Usui Soichiro、Inoue Oto、Goten Chiaki、Yamaguchi Kosei、Takeda Yusuke、Cui Shihe、Sakai Yoshio、Hayashi Kenshi、Sakata Kenji、Kawashiri Masa-aki、Takamura Masayuki
  • Journal Title: Scientific Reports Volume: 11 Issue: 1 Pages: 1520-1520
  • DOI: 10.1038/s41598-020-80848-3
  • NAID: 120006957801
  • Peer Reviewed
• [Journal Article] Prognostic impact of cascade screening for familial hypercholesterolemia on cardiovascular events (2021)
  • Author(s): Tada H, Okada H, Nomura A, Nohara A, Yamagishi M, Takamura M, Kawashiri MA
  • Journal Title: J Clin Lipidol Volume: in press Issue: 2 Pages: 358-365
  • DOI: 10.1016/j.jacl.2020.12.012
  • Peer Reviewed
• [Journal Article] Severe calcification of the Achilles' tendon. (2021)
  • Author(s): Kawashiri MA, Okada H, Tada H.
  • Journal Title: Eur Heart J. Volume: 42 Issue: 22 Pages: 2217-2217
  • DOI: 10.1093/eurheartj/ehab017
  • Peer Reviewed
• [Journal Article] First-degree atrioventricular block is significantly associated with incident atrial fibrillation in the population predominantly including participants aged over 60 years. (2021)
  • Author(s): Tanaka Y, Tada H, Hamaya R, Patel RB, Hayashi K, Yamagami K, Hashiba A, Takamura M, Kawashiri MA, Greenland P.
  • Journal Title: Heart Vessels. Volume: 36 Issue: 9 Pages: 1401-1409
  • DOI: 10.1007/s00380-021-01805-2
  • Peer Reviewed
• [Journal Article] Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents. (2021)
  • Author(s): Tada H, Takamura M, Kawashiri MA.
  • Journal Title: Vasc Health Risk Manag. Volume: 17 Pages: 59-67
  • DOI: 10.2147/vhrm.s266249
  • Peer Reviewed
• [Journal Article] Prevalence and Impact of Apolipoprotein E7 on LDL Cholesterol Among Patients With Familial Hypercholesterolemia. (2021)
  • Author(s): Tada H, Yamagami K, Kojima N, Shibayama J, Nishikawa T, Okada H, Nomura A, Usui S, Sakata K, Takamura M, Kawashiri MA.
  • Journal Title: Front Cardiovasc Med. Volume: 8 Pages: 625852-625852
  • DOI: 10.3389/fcvm.2021.625852
  • Peer Reviewed
• [Journal Article] Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia. (2021)
  • Author(s): Nomura A, Sato T, Tada H, Kannon T, Hosomichi K, Tsujiguchi H, Nakamura H, Takamura M, Tajima A, Kawashiri MA.
  • Journal Title: J Hum Genet. Volume: 66 Issue: 11 Pages: 1079-1087
  • DOI: 10.1038/s10038-021-00929-7
  • Peer Reviewed / Open Access
• [Journal Article] Association of proteinuria with incident atrial fibrillation in the general Japanese population (2021)
  • Author(s): Tanaka Y, Tada H, Hara S, Hayashi K, Patel RB, Nishikawa T, Hashiba A, Takamura M, Greenland P, Kawashiri MA.
  • Journal Title: J Cardiol. Volume: 77 Issue: 1 Pages: 100-105
  • DOI: 10.1016/j.jjcc.2020.08.001
  • Peer Reviewed
• [Journal Article] Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country (2020)
  • Author(s): Tada H, Takamura M, Kawashiri MA.
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 27 Issue: 12 Pages: 1261-1263
  • DOI: 10.5551/jat.ED139
  • NAID: 130007948668
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2020-12-01
  • Peer Reviewed
• [Journal Article] Lipoprotein (a) and the Risk of Chronic Kidney Disease in Hospitalized Japanese Patients (2020)
  • Author(s): Tada H, Yamagami K, Nishikawa T, Yoshida T, Teramoto R, Sakata K, Takamura M, Kawashiri MA.
  • Journal Title: Internal Medicine Volume: 59 Issue: 14 Pages: 1705-1710
  • DOI: 10.2169/internalmedicine.4503-20
  • NAID: 130007873287
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2020-07-15
  • Peer Reviewed
• [Journal Article] Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology (2020)
  • Author(s): Tada H, Usui S, Sakata K, Takamura M, Kawashiri MA.
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 27 Issue: 6 Pages: 489-498
  • DOI: 10.5551/jat.RV17040
  • NAID: 130007850183
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2020-06-01
  • Peer Reviewed
• [Journal Article] Fasting and Non-Fasting Triglycerides and Risk of Cardiovascular Events in Diabetic Patients Under Statin Therapy (2020)
  • Author(s): Tada H, Nomura A, Yoshimura K, Itoh H, Komuro I, Yamagishi M, Takamura M, Kawashiri MA
  • Journal Title: Circulation Journal Volume: 84 Issue: 3 Pages: 509-515
  • DOI: 10.1253/circj.CJ-19-0981
  • NAID: 130007801792
  • ISSN: 1346-9843, 1347-4820
  • Year and Date: 2020-02-25
  • Peer Reviewed / Open Access
• [Journal Article] Clinical Impact of Carotid Plaque Score rather than Carotid Intima-Media Thickness on Recurrence of Atherosclerotic Cardiovascular Disease Events (2020)
  • Author(s): Tada H, Nakagawa T, Okada H, Nakahashi T, Mori M, Sakata K, Nohara A, Takamura M, Kawashiri MA
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 27 Issue: 1 Pages: 38-46
  • DOI: 10.5551/jat.49551
  • NAID: 130007779013
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2020-01-01
  • Peer Reviewed / Open Access
• [Journal Article] Antithrombotic Therapy in Patients With Prior Stroke/Transient Ischemic Attack and Acute Coronary Syndromes (2020)
  • Author(s): Zhang D, Kawashiri MA, et al.
  • Journal Title: Angiology. Volume: 71 Issue: 6 Pages: 576-577
  • DOI: 10.1177/0003319720908478
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations (2020)
  • Author(s): Kojima Nobuko、Tada Hayato、Usui Soichiro、Sakata Kenji、Hayashi Kenshi、Nohara Atsushi、Inazu Akihiro、Takamura Masayuki、Kawashiri Masa-aki
  • Journal Title: Clinica Chimica Acta Volume: 507 Pages: 11-16
  • DOI: 10.1016/j.cca.2020.04.003
  • Peer Reviewed
• [Journal Article] A Catalog of the Pathogenic Mutations of LDL Receptor Gene in Japanese Familial Hypercholesterolemia (2020)
  • Author(s): Tada H*, Hori M*(*equal contribution), Nomura A, Hosomichi K, Nohara A, Kawashiri M*, Harada-Shiba M*
  • Journal Title: Journal of Clinical Lipidology Volume: - Issue: 3 Pages: 346-351
  • DOI: 10.1016/j.jacl.2020.03.002
  • Peer Reviewed
• [Journal Article] Impact of concomitant peripheral artery disease on contrast-induced acute kidney injury and mortality in patients with acute coronary syndrome after percutaneous coronary intervention (2020)
  • Author(s): Nakahashi T, Tada H, Sakata K, Yakuta Y, Yoshida T, Tanaka Y, Nomura A, Terai H, Horita Y, Ikeda M, Namura M, Takamura M, Kawashiri MA.
  • Journal Title: Heart Vessels. Volume: 35 Issue: 10 Pages: 1360-1367
  • DOI: 10.1007/s00380-020-01614-z
  • Peer Reviewed
• [Journal Article] Genomics of hypertriglyceridemia (2020)
  • Author(s): Tada H, Takamura M, Kawashiri MA.
  • Journal Title: Adv Clin Chem. Volume: 97 Pages: 141-169
  • DOI: 10.1016/bs.acc.2019.12.005
  • Peer Reviewed
• [Journal Article] What is the mechanism of genetic contributions to the development of atherosclerosis? (2020)
  • Author(s): Tada H, Takamura M, Kawashiri MA.
  • Journal Title: Atherosclerosis. Volume: 307 Pages: 72-74
  • DOI: 10.1016/j.atherosclerosis.2020.05.006
  • Peer Reviewed
• [Journal Article] The impact of optimal medical therapy on patients with recurrent acute myocardial infarction: Subanalysis from the BleeMACS study (2020)
  • Author(s): Zhang D, Kawashiri MA, et al.
  • Journal Title: Int J Cardiol. Volume: 318 Pages: 1-6
  • DOI: 10.1016/j.ijcard.2020.06.021
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Personalized medicine for cardiovascular diseases (2020)
  • Author(s): Tada H, Fujino N, Nomura A, Nakanishi C, Hayashi K, Takamura M, Kawashiri MA.
  • Journal Title: J Hum Genet. Volume: 66 Issue: 1 Pages: 67-74
  • DOI: 10.1038/s10038-020-0818-7
  • Peer Reviewed
• [Journal Article] Evinacumab for Homozygous Familial Hypercholesterolemia (2020)
  • Author(s): Raal FJ, Kawashiri M, et al.
  • Journal Title: N Engl J Med. Volume: 383 Issue: 8 Pages: 711-720
  • DOI: 10.1056/nejmoa2004215
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease (2020)
  • Author(s): Nomura A, Emdin CA, Won HH, Peloso GM, Natarajan P, Ardissino D, Danesh J, Schunkert H, Correa A, Bown MJ, Samani NJ, Erdmann J, McPherson R, Watkins H, Saleheen D, Elosua R, Kawashiri MA, Tada H, Gupta N, Shah SH, Rader DJ, Gabriel S, Khera AV, Kathiresan S.
  • Journal Title: Circ Genom Precis Med. Volume: 13 Issue: 5 Pages: 417-423
  • DOI: 10.1161/circgen.119.002871
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design (2020)
  • Author(s): Tada Hayato、Kajinami Kouji、et al.
  • Journal Title: BMJ Open Volume: 10 Issue: 9 Pages: e038623-e038623
  • DOI: 10.1136/bmjopen-2020-038623
  • Peer Reviewed / Open Access
• [Journal Article] A reassessment of the Japanese clinical diagnostic criteria of familial hypercholesterolemia in a hospital-based cohort using comprehensive genetic analysis (2020)
  • Author(s): Tada Hayato、Okada Hirofumi、Nomura Akihiro、Nohara Atsushi、Usui Soichiro、Sakata Kenji、Takamura Masayuki、Kawashiri Masa-aki
  • Journal Title: Practical Laboratory Medicine Volume: 22 Pages: e00180-e00180
  • DOI: 10.1016/j.plabm.2020.e00180
  • Peer Reviewed
• [Journal Article] Prevalence, self-awareness, and LDL cholesterol levels among patients highly suspected as familial hypercholesterolemia in a Japanese community (2020)
  • Author(s): Tada H, Shibayama J, Nishikawa T, Okada H, Nomura A, Usui S, Sakata K, Hashiba A, Inazu A, Takamura M, Kawashiri MA.
  • Journal Title: Pract Lab Med. Volume: 19 Pages: e00181-e00181
  • DOI: 10.1016/j.plabm.2020.e00181
  • Peer Reviewed
• [Journal Article] Impact of Renin-Angiotensin System Blockade on the Prognosis of Acute Coronary Syndrome Based on Left Ventricular Ejection Fraction (2020)
  • Author(s): Raposeiras-Roubn S, Kawashiri M, et al.
  • Journal Title: Rev Esp Cardiol (Engl Ed) Volume: 73 Issue: 2 Pages: 114-122
  • DOI: 10.1016/j.rec.2019.02.012
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] P2Y12 Inhibitors in Acute Coronary Syndrome Patients With Renal Dysfunction: An Analysis From the RENAMI and BleeMACS Projects (2020)
  • Author(s): De Filippo O, Kawashiri M, et al.
  • Journal Title: Eur Heart J Cardiovasc Pharmacother Volume: 6 Issue: 1 Pages: 31-42
  • DOI: 10.1093/ehjcvp/pvz048
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Average Daily Ischemic Versus Bleeding Risk in Patients With ACS Undergoing PCI: Insights From the BleeMACS and RENAMI Registries (2020)
  • Author(s): D'Ascenzo F, Kawashiri M, et al.
  • Journal Title: Am Heart J Volume: 220 Pages: 108-115
  • DOI: 10.1016/j.ahj.2019.10.001
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene (2020)
  • Author(s): Tada H, Okada H, Nomura A, Takamura M, Kawashiri MA
  • Journal Title: Lipids Health Dis Volume: 19 Issue: 1 Pages: 3-3
  • DOI: 10.1186/s12944-019-1183-4
  • Peer Reviewed / Open Access
• [Journal Article] Takotsubo Cardiomyopathy Complicated by Cardiac Tamponade Due to Non-Hemorrhagic Pericardial Effusion: A Case Report (2020)
  • Author(s): Nagamori Y, Hamaoka T, Murai H, Takashima S, Kato T, Usui S, Sakata K, Furusho H, Kawashiri M, Takamura M.
  • Journal Title: BMC Cardiovasc Disord Volume: 20 Issue: 1 Pages: 67-67
  • DOI: 10.1186/s12872-020-01377-5
  • Peer Reviewed / Open Access
• [Journal Article] The First Report of Purulent Pericarditis Associated with Aortic Stent-graft Infection Caused by Methicillin-susceptible <i>Staphylococcus aureus</i> (2019)
  • Author(s): Yamagami K, Tanaka Y, Tada H, Fujii H, Takamura M, Kawashiri MA.
  • Journal Title: Internal Medicine Volume: 58 Issue: 21 Pages: 3103-3106
  • DOI: 10.2169/internalmedicine.2994-19
  • NAID: 130007740725
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2019-11-01
  • Peer Reviewed
• [Journal Article] Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype (2019)
  • Author(s): Tada Hayato、Okada Hirofumi、Nomura Akihiro、Yashiro Satoshi、Nohara Atsushi、Ishigaki Yasushi、Takamura Masayuki、Kawashiri Masa-aki
  • Journal Title: Circulation Journal Volume: 83 Issue: 9 Pages: 1917-1924
  • DOI: 10.1253/circj.CJ-19-0317
  • NAID: 130007695018
  • ISSN: 1346-9843, 1347-4820
  • Year and Date: 2019-08-23
  • Peer Reviewed / Open Access
• [Journal Article] Unusual Aorto-mitral Discontinuity Caused by Infective Endocarditis (2019)
  • Author(s): Nakagawa T, Mori M, Tada H, Ohira M, Iino K, Hayashi K, Takemura H, Yamagishi M, Kawashiri MA.
  • Journal Title: Internal Medicine Volume: 58 Issue: 16 Pages: 2373-2376
  • DOI: 10.2169/internalmedicine.2629-19
  • NAID: 130007690120
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2019-08-15
  • Peer Reviewed / Open Access
• [Journal Article] Lipoprotein(a) as an Old and New Causal Risk Factor of Atherosclerotic Cardiovascular Disease (2019)
  • Author(s): Tada H, Takamura M, Kawashiri MA.
  • Journal Title: Journal of Atherosclerosis and Thrombosis Volume: 26 Issue: 7 Pages: 583-591
  • DOI: 10.5551/jat.RV17034
  • NAID: 130007671335
  • ISSN: 1340-3478, 1880-3873
  • Year and Date: 2019-07-01
  • Peer Reviewed / Open Access
• [Journal Article] Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy (2019)
  • Author(s): Hodatsu A, Fujino N, Uyama Y, Tsukamoto O, Imai-Okazaki A, Yamazaki S, Seguchi O, Konno T, Hayashi K, Kawashiri MA, Asano Y, Kitakaze M, Takashima S, Yamagishi M
  • Journal Title: ESC Heart Fail Volume: 6 Issue: 2 Pages: 06-415
  • DOI: 10.1002/ehf2.12410
  • Peer Reviewed / Open Access
• [Journal Article] Impact of Decreased Ankle-Brachial Index on 30-day Bleeding Complications and Long-Term Mortality in Patients With Acute Coronary Syndrome After Percutaneous Coronary Intervention (2019)
  • Author(s): Nakahashi T, Tada H, Sakata K, Yakuta Y, Tanaka Y, Gamou T, Nomura A, Terai H, Horita Y, Ikeda M, Namura M, Takamura M, Hayashi K, Yamagishi M, Kawashiri MA.
  • Journal Title: J Cardiol Volume: 74 Issue: 2 Pages: 116-122
  • DOI: 10.1016/j.jjcc.2019.01.008
  • Peer Reviewed
• [Journal Article] C-Peptide Area Under the Curve at Glucagon Stimulation Test Predicts Glucose Improvements by GLP-1 Receptor Analogue: A Retrospective Observational Study (2019)
  • Author(s): Ohbatake A, Yagi K, Karashima S, Shima Y, Miyamoto Y, Asaka H, Okazaki S, Kometani M, Kawashiri MA, Takeda Y, Yoneda T, Chujo D.
  • Journal Title: Diabetes Ther Volume: 10 Issue: 2 Pages: 673-681
  • DOI: 10.1007/s13300-019-0586-6
  • Peer Reviewed / Open Access
• [Journal Article] Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease (2019)
  • Author(s): Peloso Gina M.、Nomura Akihiro、Khera Amit V.、Nohara Atsushi、Kawashiri Masa-aki、Tada Hayato、Dewey Frederick E.、Carey David J.、Baras Aris、Kathiresan Sekar et al.
  • Journal Title: Circulation: Genomic and Precision Medicine Volume: 12 Issue: 5
  • DOI: 10.1161/circgen.118.002376
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Monogenic, polygenic, and oligogenic familial hypercholesterolemia (2019)
  • Author(s): Tada H, Nohara A, Kawashiri MA
  • Journal Title: Curr Opin Lipidol Volume: 30 Issue: 4 Pages: 300-306
  • DOI: 10.1097/qco.0000000000000563
  • Peer Reviewed / Open Access
• [Journal Article] Acute Myocardial Infarction in a Patient Positive for Lupus Anticoagulant: A Case Report (2019)
  • Author(s): Murai K, Sakata K, Gamou T, Nagata Y, Tada H, Shimojima M, Okada H, Hayashi K, Kawashiri MA.
  • Journal Title: BMC Cardiovasc Disord Volume: 19 Issue: 1 Pages: 167-167
  • DOI: 10.1186/s12872-019-1153-9
  • Peer Reviewed
• [Journal Article] Primary Aldosteronism Subtype Discordance Between Computed Tomography and Adrenal Venous Sampling (2019)
  • Author(s): Aono D, Kometani M, Karashima S, Usukura M, Gondo Y, Hashimoto A, Demura M, Furukawa K, Takeda Y, Kawashiri M, Yoneda T.
  • Journal Title: Hypertens Res Volume: 42 Issue: 12 Pages: 1942-1950
  • DOI: 10.1038/s41440-019-0310-y
  • Peer Reviewed
• [Presentation] 高齢冠動脈疾患患者にもストロングスタチンは推奨される (2021)
  • Author(s): 川尻剛照
  • Organizer: 第53回日本動脈硬化学会総会・学術集会
  • Invited
• [Presentation] 循環器病におけるゲノム解析プロジェクト 家族性高コレステロール血症 (2021)
  • Author(s): 川尻剛照
  • Organizer: 第85回日本循環器学会学術集会
  • Invited
• [Presentation] 診療指針を踏まえたスタチン不耐マネジメントの実際 (2020)
  • Author(s): 川尻剛照
  • Organizer: 第52回日本動脈硬化学会・学術集会
  • Invited
• [Presentation] FHホモ接合体の治療標的 (2020)
  • Author(s): 川尻剛照
  • Organizer: 第52回日本動脈硬化学会・学術集会
  • Invited
• [Presentation] 家族性高コレステロール血症の諸問題 新しい治療の選択に関わる諸問題、ビジョン (2019)
  • Author(s): 川尻剛照
  • Organizer: 第51回日本動脈硬化学会総会・学術集会
  • Invited
• [Presentation] 遺伝性疾患と遺伝学に学ぶ脂質治療 (2019)
  • Author(s): 川尻剛照
  • Organizer: 第67回日本心臓病学会学術集会
  • Invited
• [Book] その患者、FHかもしれませんよ？ (2021)
  • Author(s): 川尻剛照
  • Total Pages: 136
  • Publisher: メディカ出版
  • ISBN: 9784840475464