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Genetic variants of alcohol metabolizing enzymes in Cardiovascular Disorders

Research Project

Project/Area Number 17K09495
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Cardiovascular medicine
Research InstitutionShiga University of Medical Science

Principal Investigator

Hayashi Hideki  滋賀医科大学, 医学部, 非常勤講師 (70464188)

Co-Investigator(Kenkyū-buntansha) 堀江 稔  滋賀医科大学, アジア疫学研究センター, 特任教授 (90183938)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2019: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsアルコール代謝酵素 / 遺伝子多型 / ブルガダ症候群 / 心室細動発作 / ADH1B / ALDH2 / 循環器・高血圧 / 遺伝子 / 不整脈 / 遺伝 / ADH1B遺伝子 / ALDH2遺伝子 / アセトアルデヒド / 酵素 / アルコール / アルコール依存症 / 突然死
Outline of Final Research Achievements

Patients with Brugada syndrome (BrS) are known to have arrhythmic events after alcohol drinking and recommended to avoid its excessive intake.This study aimed to test the hypothesis whether activity of alcohol‐metabolizing enzymes determines cardiac events after drinking alcohol and comprized 198 BrS patients: 90 symptomatic and 108 asymptomatic, and the symptomatic was divided into 16 alcohol‐related and 74 alcohol‐unrelated group.SNPs of two genes: alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) were determined.The SNP distribution for ADH1B was not significantly different between symptomatic and asymptomatic groups, but the genotype ADH1B His/His was significantly more prevalent in the alcohol‐related group than in the unrelated (81.3% vs 50%, P = .023). In multivariate logistic regression, the ADH1B His/His was independently associated with syncope after alcohol (odds ratio, 5.746; P = .007), indicating the relation between cardiac events and ADH1B SNP.

Academic Significance and Societal Importance of the Research Achievements

循環器疾患でも、アルコール摂取と発症との関連が知られている病気に、ブルガダ症候群がある。2013年の Expert Consensus Statementでは、過剰なアルコール摂取は、心イベントの引き金になるとされるが、体内に入ったアルコールが、なぜ致命的な不整脈を引き起こすのかは不明である。本研究では、アルコール代謝に関わるADH1BとALDH2の2つの酵素をコードする遺伝子のSNP遺伝型が、血中アセトアルデヒド・レベルを変化させ、自律神経に影響する結果、ブルガダ症候群患者の致死的な不整脈を誘発する可能性を明らかにした。この遺伝型は、東アジア人に多く本症の発症頻度との関連からも興味深い。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (76 results)

All 2020 2019 2018 2017 2016 Other

All Journal Article (58 results) (of which Int'l Joint Research: 22 results,  Peer Reviewed: 58 results,  Open Access: 51 results) Presentation (16 results) (of which Int'l Joint Research: 4 results,  Invited: 3 results) Remarks (2 results)

  • [Journal Article] Heart Rate Recovery After Exercise Is Associated With Arrhythmic Events in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia2020

    • Author(s)
      Lieve K V.V., Dusi V、van der W C、Bos J. Horie M、Swan H、Ackerman M J.、Wilde A A.M. et al.
    • Journal Title

      Circulation: Arrhythmia and Electrophysiology

      Volume: 13 Issue: 3 Pages: 0-0

    • DOI

      10.1161/circep.119.007471

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Co-phenotype of left ventricular noncompaction cardiomyopathy and atypical catecholaminergic polymorphic ventricular tachycardia in association with R169Q, a ryanodine receptor type 2 gene missense mutation.2020

    • Author(s)
      Nozaki Y, Kato Y, Uike K, Yamamura K, Kikuchi M, Yasuda M, Ohno S, Horie M, Murayama T, Kurebayashi N, Horigome H.
    • Journal Title

      Circ J

      Volume: 2 Pages: 226-234

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Long-term prognosis of patients with J-wave syndrome.2020

    • Author(s)
      Kamakura T, Shinohara T, Yodogawa K, Murakoshi N, Morita H, Takahashi N, Inden Y, Shimizu W, Nogami A, Horie M, Aiba T, Kusano K.
    • Journal Title

      Heart

      Volume: 106 Issue: 4 Pages: 299-306

    • DOI

      10.1136/heartjnl-2019-315007

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome2020

    • Author(s)
      Lahrouchi N, ..... Horie M, ..... Bezzina, C.
    • Journal Title

      Circulation

      Volume: in press

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Differences Between Coronary Artery Calcification and Aortic Artery Calcification in Relation to Cardiovascular Disease Risk Factors in Japanese Men2019

    • Author(s)
      Kimani Cecilia、Kadota Aya、Miura Katsuyuki、Fujiyoshi Akira、Zaid Maryam、Kadowaki Sayaka、Hisamatsu Takashi、Arima Hisatomi、Horie Minoru、Ueshima Hirotsugu、for the SESSA Research Group
    • Journal Title

      Journal of Atherosclerosis and Thrombosis

      Volume: 26 Issue: 5 Pages: 452-464

    • DOI

      10.5551/jat.44784

    • NAID

      130007641278

    • ISSN
      1340-3478, 1880-3873
    • Year and Date
      2019-05-01
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Medical Castration is a Rare but Possible Trigger of Torsade de Pointes and Ventricular Fibrillation2019

    • Author(s)
      Hasegawa Kanae、Morishita Tetsuji、Miyanaga Dai、Hisazaki Kaori、Kaseno Kenichi、Miyazaki Shinsuke、Uzui Hiroyasu、Ohno Seiko、Horie Minoru、Tada Hiroshi
    • Journal Title

      International Heart Journal

      Volume: 60 Issue: 1 Pages: 193-198

    • DOI

      10.1536/ihj.18-127

    • NAID

      130007557184

    • ISSN
      1349-2365, 1349-3299
    • Year and Date
      2019-01-31
    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic variants of alcohol‐metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol2019

    • Author(s)
      Wu Qi、Hayashi Hideki、Hira Daiki、Sonoda Keiko、Ueshima Satoshi、Ohno Seiko、Makiyama Takeru、Terada Tomohiro、Katsura Toshiya、Miura Katsuyuki、Horie Minoru
    • Journal Title

      Journal of Arrhythmia

      Volume: 35 Issue: 5 Pages: 752-759

    • DOI

      10.1002/joa3.12227

    • NAID

      120006848263

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A de novo gain-of-function KCND3 mutation in early repolarization syndrome2019

    • Author(s)
      Takayama Koichiro、Ohno Seiko、Ding Wei-Guang、Ashihara Takashi、Fukumoto Daisuke、Wada Yuko、Makiyama Takeru、Kise Hiroaki、Hoshiai Minako、Matsuura Hiroshi、Horie Minoru
    • Journal Title

      Heart Rhythm

      Volume: 16 Issue: 11 Pages: 1698-1706

    • DOI

      10.1016/j.hrthm.2019.05.033

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Long QT syndrome with a de novo CALM2 mutation in a 4‐year‐old boy2019

    • Author(s)
      Fujita Shuhei、Nakagawa Ryo、Futatani Takeshi、Igarashi Noboru、Fuchigami Takamasa、Saito Shinsuke、Ohno Seiko、Horie Minoru、Hatasaki Kiyoshi
    • Journal Title

      Pediatrics International

      Volume: 61 Issue: 9 Pages: 852-858

    • DOI

      10.1111/ped.13959

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells2019

    • Author(s)
      Yoshinaga Daisuke、Baba Shiro、Makiyama Takeru、Shibata Hirofumi、Hirata Takuya、Akagi Kentaro、Matsuda Koichi、Kohjitani Hirohiko、Wuriyanghai Yimin、Umeda Katsutsugu、Yamamoto Yuta、Conklin Bruce R.、Horie Minoru、Takita Junko、Heike Toshio
    • Journal Title

      Stem Cell Reports

      Volume: 13 Issue: 2 Pages: 394-404

    • DOI

      10.1016/j.stemcr.2019.06.007

    • NAID

      120006786948

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Population pharmacokinetics and pharmacodynamics of apixaban linking its plasma concentration to intrinsic activated coagulation factor X activity in Japanese patients with atrial fibrillation2019

    • Author(s)
      Ueshima Satoshi、Hira Daiki、Tomitsuka Chiho、Nomura Miki、Kimura Yuuma、Yamane Takuya、Tabuchi Yohei、Ozawa Tomoya、Itoh Hideki、Horie Minoru、Terada Tomohiro、Katsura Toshiya
    • Journal Title

      The AAPS Journal

      Volume: 21 Issue: 5 Pages: 80-80

    • DOI

      10.1208/s12248-019-0353-7

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Response by Sakamoto et al to Letter Regarding Article, “Left-Dominant Arrhythmogenic Cardiomyopathy With Heterozygous Mutations in DSP and MYBPC3”2019

    • Author(s)
      Sakamoto Naka、Natori Shunsuke、Hosoguchi Shohei、Minoshima Akiho、Noro Tadanori、Akasaka Kazumi、Sato Nobuyuki、Ohno Seiko、Ikeda Yoshihiko、Ishibashi-Ueda Hatsue、Horie Minoru、Hasebe Naoyuki
    • Journal Title

      Circulation: Cardiovascular Imaging

      Volume: 12 Issue: 9

    • DOI

      10.1161/circimaging.119.009691

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Mutant KCNJ3 and KCNJ5 potassium channels as novel molecular targets in bradyarrhythmias and atrial fibrillation.2019

    • Author(s)
      Yamada N, Asano Y, Fujita M, Yamazaki S, Inanobe A, Matsuura N, Kobayashi H, Ohno S, Ebana Y, Tsukamoto O, Ishino S, Takuwa A, Kioka H, Yamashita T, Hashimoto N, Zankov DP, Shimizu A, Asakura M, Asanuma H, Kato H, Nishida Y, Miyashita Y, Shinomiya H, Naiki N, Hayashi K, Makiyama T, Ogita H, et al.
    • Journal Title

      Circulation

      Volume: In press Issue: 18 Pages: 2157-2169

    • DOI

      10.1161/circulationaha.118.036761

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Optical Recording of Action Potentials in Human Induced Pluripotent Stem Cell-Derived Cardiac Single Cells and Monolayers Generated from Long QT Syndrome Type 1 Patients2019

    • Author(s)
      Takaki Tadashi、Inagaki Azusa、Chonabayashi Kazuhisa、Inoue Keiji、Miki Kenji、Ohno Seiko、Makiyama Takeru、Horie Minoru、Yoshida Yoshinori
    • Journal Title

      Stem Cells International

      Volume: 2019 Pages: 1-12

    • DOI

      10.1155/2019/7532657

    • NAID

      120006634620

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients2019

    • Author(s)
      Shimizu Wataru、Makimoto Hisaki、Yamagata Kenichiro、Kamakura Tsukasa、Wada Mitsuru、Miyamoto Koji、Inoue-Yamada Yuko、Okamura Hideo、Ishibashi Kohei、Noda Takashi、Nagase Satoshi、Miyazaki Aya、Sakaguchi Heima、Shiraishi Isao、Makiyama Takeru、Ohno Seiko、Itoh Hideki、et al
    • Journal Title

      JAMA Cardiology

      Volume: in press Issue: 3 Pages: 246-254

    • DOI

      10.1001/jamacardio.2018.4925

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry2019

    • Author(s)
      Chen C -Y J、Juang J -M J、Horie M、Chen Ru-Yi、Li Pai-Tseng、Stephen Huang Shoei K、(SADS-TW BrS Registry). et al.
    • Journal Title

      QJM: An International Journal of Medicine

      Volume: 112 Issue: 5 Pages: 343-350

    • DOI

      10.1093/qjmed/hcz028

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia2019

    • Author(s)
      Dharmawan T, Nakajima T, Ohno S, Iizuka T, Tamura S, Kaneko Y, Horie M, Kurabayashi M.
    • Journal Title

      Ann Noninvasive Electrocardiol

      Volume: - Issue: 3

    • DOI

      10.1111/anec.12623

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A trafficking-deficient KCNQ1 mutation, T587M, causes a severe phenotype of long QT syndrome by interfering with intracellular hERG transport.2019

    • Author(s)
      Wu J, Sakaguchi T, Takenaka K, Toyoda F, Tsuji K, Matsuura H, Horie M
    • Journal Title

      J Cardiol

      Volume: 73 Issue: 5 Pages: 343-350

    • DOI

      10.1016/j.jjcc.2018.10.011

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry2019

    • Author(s)
      Crotti Lia、Spazzolini Carla、Tester David J、Ohno Seiko、Ackerman Michael J、Schwartz Peter J, et al.
    • Journal Title

      European Heart Journal

      Volume: 40 Issue: 35 Pages: 2964-2975

    • DOI

      10.1093/eurheartj/ehz311

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest2019

    • Author(s)
      van der Werf Christian、Lieve Krystien V、Seiko Ohno、Leenhardt Antoine、Ackerman Michael J、Wilde Arthur A、et al.
    • Journal Title

      European Heart Journal

      Volume: 40 Issue: 35 Pages: 2953-2961

    • DOI

      10.1093/eurheartj/ehz309

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical and neurophysiological variability in Andersen‐Tawil syndrome2019

    • Author(s)
      Kokubun Norito、Aoki Reika、Nagashima Takahide、Komagamine Tomoko、Kuroda Yusuke、Horie Minoru、Hirata Koichi
    • Journal Title

      Muscle & Nerve

      Volume: 60 Issue: 6 Pages: 752-757

    • DOI

      10.1002/mus.26705

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Clinical Manifestations and Long-Term Mortality in <i>Lamin A/C</i> Mutation Carriers From a Japanese Multicenter Registry2018

    • Author(s)
      14.Nakajima K, Aiba T, Makiyama T, Nishiuchi S, Ohno S, Kato K, Yamamoto Y, Doi T, Shizuta S, Onoue K, Yagihara N, Ishikawa T, Watanabe I, Kawakami H, Oginosawa Y, Murakoshi N, Nogami A, Aonuma K, Saito Y, Kimura T, Yasuda S, Makita N, Shimizu W, Horie M, Kusano K.
    • Journal Title

      Circulation Journal

      Volume: 82 Issue: 11 Pages: 2707-2714

    • DOI

      10.1253/circj.CJ-18-0339

    • NAID

      40021697176

    • ISSN
      1346-9843, 1347-4820
    • Year and Date
      2018-10-25
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Guidelines for Heart Disease Screening in Schools (JCS 2016/JSPCCS 2016) ― Digest Version ―2018

    • Author(s)
      umitomo N, Baba R, Doi S, Higaki T, Horie M, Nagashima M, Niwa K, Ogawa S, Okumura K, Tsutsui H (et al. )
    • Journal Title

      Circulation Journal

      Volume: 82 Issue: 9 Pages: 2385-2444

    • DOI

      10.1253/circj.CJ-66-0153

    • NAID

      130007438850

    • ISSN
      1346-9843, 1347-4820
    • Year and Date
      2018-08-24
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 ― Modified Schwartz Score ―2018

    • Author(s)
      Ozawa Junichi、Ohno Seiko、Fujii Yusuke、Makiyama Takeru、Suzuki Hiroshi、Saitoh Akihiko、Horie Minoru
    • Journal Title

      Circulation Journal

      Volume: 82 Issue: 9 Pages: 2269-2276

    • DOI

      10.1253/circj.CJ-17-1032

    • NAID

      130007438837

    • ISSN
      1346-9843, 1347-4820
    • Year and Date
      2018-08-24
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association of Coronary Artery Calcification with Estimated Coronary Heart Disease Risk from Prediction Models in a Community-Based Sample of Japanese Men: The Shiga Epidemiological Study of Subclinical Atherosclerosis (SESSA)2018

    • Author(s)
      Tai P, Fujiyoshi A, Arima H, Tanaka-Mizuno S, Hisamatsu T, Kadowaki S, Kadota A, Zaid M, Sekikawa A, Yamamoto T, Horie M, Miura K, Ueshima H
    • Journal Title

      Journal of Atherosclerosis and Thrombosis

      Volume: 25 Issue: 6 Pages: 477-489

    • DOI

      10.5551/jat.42416

    • NAID

      130007382558

    • ISSN
      1340-3478, 1880-3873
    • Year and Date
      2018-06-01
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Association between lymphocyte count and neurological outcomes in post-cardiac arrest patients treated with mild therapeutic hypothermia2018

    • Author(s)
      Miyatake Hidemitsu、Fujino Kazunori、Tanaka Sachiko、Tsujita Yasuyuki、Horie Minoru、Eguchi Yutaka
    • Journal Title

      Acute Medicine & Surgery

      Volume: 6 Issue: 1 Pages: 30-39

    • DOI

      10.1002/ams2.374

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11‐ and 15‐year‐old sisters2018

    • Author(s)
      Fujita Shuhei、Nishida Keigo、Irabu Hitoshi、Nakagawa Ryo、Futatani Takeshi、Igarashi Noboru、Usuda Kazuo、Nagata Yoshiki、Ohno Seiko、Horie Minoru、Hatasaki Kiyoshi
    • Journal Title

      Pediatrics International

      Volume: 60 Issue: 11 Pages: 998-1001

    • DOI

      10.1111/ped.13688

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Restoration of mutant hERG stability by inhibition of HDAC62018

    • Author(s)
      Li Peili、Kurata Yasutaka、Endang Mahati、Ninomiya Haruaki、Higaki Katsumi、Taufiq Fikri、Morikawa Kumi、Shirayoshi Yasuaki、Horie Minoru、Hisatome Ichiro
    • Journal Title

      J mol Cell cardiol

      Volume: 115 Pages: 158-169

    • DOI

      10.1016/j.yjmcc.2018.01.009

    • NAID

      120007170666

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Self-reported Sleep Duration and Subclinical Atherosclerosis in a General Population of Japanese Men2018

    • Author(s)
      Suzuki S, Arima H, Miyazaki S, Fujiyoshi A, Kadota A, Takashima N, Hisamatsu T, Kadowaki S, Zaid M, Torii S, Horie M, Murata K, Miura K, Ueshima H
    • Journal Title

      Journal of Atherosclerosis and Thrombosis

      Volume: 25 Issue: 2 Pages: 186-198

    • DOI

      10.5551/jat.40527

    • NAID

      130006328445

    • ISSN
      1340-3478, 1880-3873
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss-and-gain of function effects2018

    • Author(s)
      Ozawa Junichi、Ohno Seiko、Saito Hideki、Saitoh Akihiko、Matsuura Hiroshi、Horie Minoru
    • Journal Title

      HeartRhythm Case Reports

      Volume: in press Issue: 7 Pages: 273-277

    • DOI

      10.1016/j.hrcr.2018.03.003

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Electrical storm in an infant with short-coupled variant of torsade de pointes2018

    • Author(s)
      Kise Hiroaki、Ohno Seiko、Kono Yosuke、Yoshizawa Masashi、Harama Daisuke、Okafuji Asami、Toda Takako、Koizumi Keiichi、Hoshiai Minako、Sugita Kanji、Horie Minoru
    • Journal Title

      Journal of Arrhythmia

      Volume: 34 Issue: 3 Pages: 315-318

    • DOI

      10.1002/joa3.12071

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations2018

    • Author(s)
      Saito Aki、Ohno Seiko、Nuruki Norihito、Nomura Yuichi、Horie Minoru、Yoshinaga Masao
    • Journal Title

      Journal of Arrhythmia

      Volume: 34 Issue: 3 Pages: 291-293

    • DOI

      10.1002/joa3.12053

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Home blood pressure variability and subclinical atherosclerosis in multiple vascular beds2018

    • Author(s)
      Hisamatsu Takashi、Miura Katsuyuki、Ohkubo Takayoshi、Arima Hisatomi、Fujiyoshi Akira、Satoh Atsushi、Kadota Aya、Zaid Maryam、Takashima Naoyuki、Ohno Seiko、Horie Minoru、Ueshima Hirotsugu
    • Journal Title

      Journal of Hypertension

      Volume: 36 Issue: 11 Pages: 2193-2203

    • DOI

      10.1097/hjh.0000000000001810

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Complex aberrant splicing in the induced pluripotent stem cell?derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation2018

    • Author(s)
      Wuriyanghai Yimin、Makiyama Takeru、Sasaki Kenichi、Kamakura Tsukasa、Yamamoto Yuta、Hayano Mamoru、Harita Takeshi、Nishiuchi Suguru、Chen Jiarong、Kohjitani Hirohiko、Hirose Sayako、Yokoi Fumika、Gao Jingshan、Chonabayashi Kazuhisa、Watanabe Ken、Ohno Seiko、Yoshida Yoshinori、Kimura Takeshi、Horie Minoru
    • Journal Title

      Heart Rhythm

      Volume: 15 Issue: 10 Pages: 1566-1574

    • DOI

      10.1016/j.hrthm.2018.05.028

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Not all rotors, effective ablation targets for nonparoxysmal atrial fibrillation, are included in areas suggested by conventional indirect indicators of atrial fibrillation drivers: ExTRa Mapping project2018

    • Author(s)
      Sakata K, Okuyama Y, Ozawa T, Haraguchi R, Nakazawa K, Tsuchiya T, Horie M, Ashihara T
    • Journal Title

      Journal of Arrhythmia

      Volume: 34 Issue: 2 Pages: 176184-176184

    • DOI

      10.1002/joa3.12036

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation.2018

    • Author(s)
      Ueshima S, Hira D, Kimura Y, Fujii R, Tomitsuka C, Yamane T, Tabuchi Y, Ozawa T, Itoh H, Ohno S, Horie M, Terada T, Katsura T.
    • Journal Title

      Br. J. Clin. Pharmacol.

      Volume: - Issue: 6 Pages: 1301-1312

    • DOI

      10.1111/bcp.13561

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] SCN5A mutations in 442 neonates and children: genotype?phenotype correlation and identification of higher-risk subgroups2018

    • Author(s)
      30.Baruteau A, Kyndt F, Behr ER, MD, Vink AS, Lachaud M, Joong A, Schott J-J, Horie M, Wilde AA, Schwartz PJ, Probst V. (et al.)
    • Journal Title

      European Heart Journal

      Volume: 39 Issue: 31 Pages: 2879-2887

    • DOI

      10.1093/eurheartj/ehy412

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Extensive Diversity of Molecular Mechanisms Underlying the Congenital Long QT Syndrome Type 12018

    • Author(s)
      Horie Minoru
    • Journal Title

      Canadian Journal of Cardiology

      Volume: 34 Issue: 9 Pages: 1108-1109

    • DOI

      10.1016/j.cjca.2018.07.474

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes.2017

    • Author(s)
      Kuroda Y, Yuasa S, Watanabe Y, Ito S, Egashira T, ・・・Horie M, Kamiya K, Fukuda K.
    • Journal Title

      Biochemistry and Biophysics Reports

      Volume: 9 Pages: 245-256

    • DOI

      10.1016/j.bbrep.2017.01.002

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.2017

    • Author(s)
      Ishikawa T, Horie M, et al.
    • Journal Title

      Heart Rhythm

      Volume: 印刷中 Issue: 5 Pages: 717-724

    • DOI

      10.1016/j.hrthm.2017.01.020

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.2017

    • Author(s)
      Fujii Y, Horie M, et al.
    • Journal Title

      J Cardiol

      Volume: 印刷中 Issue: 1 Pages: 74-79

    • DOI

      10.1016/j.jjcc.2016.09.010

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Allele-specific Ablation Rescues Electrophysiological Abnormalities in a Human iPS Cell Model of Long-QT Syndrome with a CALM2 Mutation.2017

    • Author(s)
      Yamamoto Y, Horie M, et al.
    • Journal Title

      Human Molecular Genetics

      Volume: 印刷中 Issue: 9 Pages: 1670-1677

    • DOI

      10.1093/hmg/ddx073

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Arrhtyhmia risk and β-blocker therapy in pregnant women with long QT syndrome.2017

    • Author(s)
      Ishibashi K, Horie M, et al.
    • Journal Title

      Heart

      Volume: 印刷中 Issue: 17 Pages: 0-0

    • DOI

      10.1136/heartjnl-2016-310617

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] The relationship between J waves and contact of lung cancer with the heart.2017

    • Author(s)
      Hayashi H, Wu Q, Horie M
    • Journal Title

      Ann Noninvasive Electrocardiol

      Volume: 印刷中 Issue: 5

    • DOI

      10.1111/anec.12433

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genotype-phenotype correlation of SCN5A mutation for clinical and electrocardiographic characteristics of probands with Brugada syndrome: Japanese Multicenter Registry.2017

    • Author(s)
      Yamagata K, Horie M, et al.
    • Journal Title

      Circulation

      Volume: 印刷中 Issue: 23 Pages: 0-0

    • DOI

      10.1161/circulationaha.117.027983

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Incidence and Prognostic Impact of Heart Failure Hospitalization During Follow-up after Primary Percutaneous Coronary Intervention in ST-segment Elevation Myocardial Infarction.2017

    • Author(s)
      Taniguchi T, Horie M, et al.
    • Journal Title

      American Journal of Cardiology

      Volume: 印刷中 Issue: 11 Pages: 1729-1739

    • DOI

      10.1016/j.amjcard.2017.03.013

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors?2017

    • Author(s)
      Kimura Y、Noda T、Matsuyama T、Otsuka Y、Kamakura T、Wada M、Ishibashi K、Inoue Y、Miyamoto K、Okamura H、Nagase S、Aiba T、Kamakura S、Noguchi T、Anzai T、Satomi K、Wada Y、Ohno S、Horie M、Shimizu W、Yasuda S、Shimokawa H、Kusano K
    • Journal Title

      Int J Cardio

      Volume: 241 Pages: 288-294

    • DOI

      10.1016/j.ijcard.2017.04.061

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of <i>SCN5A</i>-D1275N-Related Cardiac Sodium Channelopathy2017

    • Author(s)
      Hayano M, Makiyama T
    • Journal Title

      Circulation Journal

      Volume: 81 Issue: 12 Pages: 1783-1791

    • DOI

      10.1253/circj.CJ-17-0064

    • NAID

      130006219109

    • ISSN
      1346-9843, 1347-4820
    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Drug-induced fatal arrhythmias: Acquired long QT and Brugada syndromes2017

    • Author(s)
      Turker Isik、Ai Tomohiko、Itoh Hideki、Horie Minoru
    • Journal Title

      Pharmacol Ther

      Volume: 176 Pages: 48-59

    • DOI

      10.1016/j.pharmthera.2017.05.001

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Long QT syndrome presents not only as QT prolongation but also as abnormal T-wave morphology2017

    • Author(s)
      Horie Minoru
    • Journal Title

      Heart Rhythm.

      Volume: 14 Issue: 8 Pages: 1171-1172

    • DOI

      10.1016/j.hrthm.2017.04.032

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.2017

    • Author(s)
      Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
    • Journal Title

      J Am Coll Cardiol.

      Volume: 70 Issue: 3 Pages: 358-370

    • DOI

      10.1016/j.jacc.2017.05.039

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.2017

    • Author(s)
      Nishiuchi S, Makiyama T, Aiba T, Nakajima K, Hirose S, Kohjitani H, Yamamoto Y, Harita T, Hayano M, Wuriyanghai Y, Chen J, Sasaki K, Yagihara N, Ishikawa T, Onoue K, Murakoshi N, Watanabe I, Ohkubo K, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, et.al
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 6 Issue: 6

    • DOI

      10.1161/circgenetics.116.001603

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Overexpression of KCNJ2 in induced pluripotent stem cell-derived cardiomyocytes for the assessment of QT-prolonging drugs.2017

    • Author(s)
      Li, M., Kanda, Y., Ashihara, T., Sasano, T., Nakai, Y., Kodama, M., Hayashi, E., Sekino, Y., Furukawa, T., and Kurokawa, J.
    • Journal Title

      J. Pharm. Sci.

      Volume: 134 Issue: 2 Pages: 75-85

    • DOI

      10.1016/j.jphs.2017.05.004

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy2017

    • Author(s)
      Wada Yuko、Ohno Seiko、Aiba Takeshi、Horie Minoru
    • Journal Title

      Mol Genet Genomic Med.

      Volume: 5 Issue: 6 Pages: 639-651

    • DOI

      10.1002/mgg3.311

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Modelling Torsade de Pointes arrhythmias in vitro in 3D human iPS cell-engineered heart tissue2017

    • Author(s)
      Kawatou M, Masumoto H, Fukushima H, Morinaga G, Sakata R, Ashihara T, Yamashita JK
    • Journal Title

      Nature Communications

      Volume: 8 Issue: 1 Pages: 1078-1078

    • DOI

      10.1038/s41467-017-01125-y

    • NAID

      120006355764

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Refractory ventricular fibrillations after surgical repair of atrial septal defects in a patient with CACNA1C gene mutation - case report2017

    • Author(s)
      Kojima Ai、Shikata Fumiaki、Okamura Toru、Higaki Takashi、Ohno Seiko、Horie Minoru、Uchita Shunji、Kawanishi Yujiro、Namiguchi Kenji、Yasugi Takumi、Izutani Hironori
    • Journal Title

      J Cardiothorac Surg.

      Volume: 12 Issue: 1 Pages: 118-118

    • DOI

      10.1186/s13019-017-0683-4

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Inappropriate implantable cardioverter defibrillator shocks?incidence, effect, and implications for driver licensing2017

    • Author(s)
      Watanabe E、Okajima K、Shimane A、Ozawa T、Manaka T、Morishima I、Asai T、Takagi M、Honda T、Kasai A、Fujii E、Yamashiro K、Kohno R、Abe H、Noda T、Kurita T、Watanabe S、Ohmori H、Nitta T、Aizawa Y、Kiyono K、Okumura K
    • Journal Title

      Journal of Interventional Cardiac Electrophysiology

      Volume: 49 Issue: 3 Pages: 271-280

    • DOI

      10.1007/s10840-017-0272-4

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsade de pointe ventricular arrhythmia.2016

    • Author(s)
      Fujii Y, Horie M, et al.
    • Journal Title

      Heart Rhythm

      Volume: 14 Issue: 1 Pages: 98-107

    • DOI

      10.1016/j.hrthm.2016.10.015

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Brugada症候群における飲酒後失神に寄与するscore systemの構築2019

    • Author(s)
      呉 琪、林秀樹、堀江 稔
    • Organizer
      日本ホルター・ノンインベイシブ心電学研究会
    • Related Report
      2019 Annual Research Report
  • [Presentation] A type2 ryanodine receptor variant associated with reduced Ca2 release and short-coupled torsades de pointes ventriculararrhythmia/2019

    • Author(s)
      Minoru Horie
    • Organizer
      Annual Meeting of Heart Rhythm Society (Boston, USA)
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Horie M. T wave alternans. ECG change specific to the inherited arrhythmia.2019

    • Author(s)
      Minoru Horie
    • Organizer
      JASHNE2018(2018.6.29. Chiba)
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 冠動脈自然乖離による急性心筋梗塞に多発内臓動脈瘤.椎骨動脈乖離を伴った1例.2019

    • Author(s)
      江角裕香, 酒井 宏,岡本寛樹,堀江 稔.
    • Organizer
      第66回日本不整脈心電学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] High Prevalence of Late Appearance T Wave in Patients with Long QT Syndrome Type 8.2019

    • Author(s)
      Fukuyama M, Ohno S,Ozawa J,Kato K, Takayama K, Makiyama T, Horie M.
    • Organizer
      第66回日本不整脈心電学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Calmodulin Mutations in Japanese Children with Long QT Syndrome.2019

    • Author(s)
      Fukuyama M, Ohno S,Ozawa J, Horie M.
    • Organizer
      第66回日本不整脈心電学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] A Novel SCN5A Frameshift Mutation Caused Progressive Cardiac Conduction Disorder and Multiform Ventricular Arrhythmia in a Case with a Surgical-Repair History of Congenital Heart Disease.2019

    • Author(s)
      Kato K, Ohno S, Ozawa T, Horie M.
    • Organizer
      第 83 回日本循環器学会 学術集会 シンポジウム
    • Related Report
      2019 Annual Research Report
  • [Presentation] Usefulness of Genetic Screening for Long QT syndrome in the School-Based Electrocardiographic Screening Programs.2019

    • Author(s)
      Fukuyama M, Ohno S, Ozawa J, Takayama K, Kato K, Itoh H, Aoki H, Makiyama T, Horie M.
    • Organizer
      第 83 回日本循環器学会 学術集会 シンポジウム
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Modulation of non-PAF driver is not always reflected by the increase in global AF cycle length: ExTRa Mapping project2018

    • Author(s)
      Ashihara T, Sakata K, Okuyama Y, Ozawa T, Haraguchi R, Nakazawa K, Tsuchiya T, Horie M
    • Organizer
      Heart Rhythm 2018 Scientific Sessions.(2018.05.09-12.Boston.U.S.A)
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] ExTRa Mapping-guided non-passively activated area ablation is very effective for patients with non-paroxysmal atrial fibrillation.2018

    • Author(s)
      Ashihara T, Sakata K, Okuyama Y, Ozawa T, Haraguchi R, Tsuchiya T, Horie M
    • Organizer
      The 44th International Congress on Electrocardiology (ICE)/The 17th Congress of the International Society for Holter and Noninvasive Electrocardiology (ISHNE).(2017.06.24-27.Portland.)
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] T wave alternans:ECG change specific to the inherited arrhythmia2018

    • Author(s)
      Horie M
    • Organizer
      JASHNE2018.(2018/6/29/, Chiba)
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] xcessive Ca2+ release from ryanodine receptors underlying a RyR2 mutation associated with cathecholaminergic polymorphic ventricular tachycardia2018

    • Author(s)
      伊藤英樹、呉林なごみ、大野聖子、藤居祐介、加藤浩一、福山恵、高山幸一郎、渡邉昌也、安斉俊久、堀江 稔
    • Organizer
      The 83rd Annual Scientific Meeting of the Japanese Circulation Society. 2018
    • Related Report
      2018 Research-status Report
  • [Presentation] Usefulness of genetic screening for long QT syndrome in the school-based electrocardiographic screening programs.2018

    • Author(s)
      7.福山恵、大野聖子、小澤淳一、高山幸一郎、加藤浩一、伊藤英樹、青木寿明、牧山 武、堀江 稔.
    • Organizer
      The 83rd Annual Scientific Meeting of the Japanese Circulation Society. 2018
    • Related Report
      2018 Research-status Report
  • [Presentation] Brugada症候群における飲酒後失神に寄与するscore systemの構築.2017

    • Author(s)
      呉 琪, 平 大樹, 林 秀樹, 園田桂子, 大野聖子, 牧山 武, 寺田智祐, 堀江 稔
    • Organizer
      第37回日本ホルタ・ノンインベイシブ心電学研究会.
    • Related Report
      2017 Research-status Report
  • [Presentation] Genetic Variants of Alcohol-Metabolizing Enzymes in Brugada Syndrome: Insights into Syncope after Drinking Alcohol.2017

    • Author(s)
      呉 琪, 林 秀樹, 牧山 武, 堀江 稔
    • Organizer
      第81回日本循環器学会学術集会.
    • Related Report
      2017 Research-status Report
  • [Presentation] Genetic Variants of Alcohol-Metabolizing Enzymes in Brugada Syndrome:Insights into Syncope after Drinking Alcohol2017

    • Author(s)
      Wu Q, Hira D, Hayashi H, Sonoda K, Ohno S, Makiyama T, Terada T, Horie M
    • Organizer
      APHRS2017
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Remarks] 滋賀医科大学循環器内科

    • URL

      http://www.shiga-med.ac.jp/~hqmed1/research/

    • Related Report
      2019 Annual Research Report
  • [Remarks] 滋賀医科大学 循環器内科

    • URL

      http://www.shiga-med.ac.jp/~hqmed1/

    • Related Report
      2017 Research-status Report

URL: 

Published: 2017-04-28   Modified: 2021-02-19  

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