Publications

Paper

2021


Genetic Analysis for Coronary Artery Disease Toward Diverse Populations.

Miyazawa K and Ito K. Front. Genet., 22 November 2021.


A cross-population atlas of genetic associations for 220 human phenotypes

Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y; FinnGen, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y. Nat Genet. 2021 Oct;53(10):1415-1424.


Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

Parth N. Patel, Kaoru Ito, Jon A.L. Willcox, Alireza Haghighi, Min Young Jang, Joshua M. Gorham, Steven R. DePalma, Lien Lam, Barbara McDonough, Renee Johnson, Neal K. Lakdawala, Amy Roberts, Paul J.R. Barton, Stuart A. Cook, Diane Fatkin, Christine E. Seidman, J.G. Seidman. Circ Genom Precis Med. 2021 Oct;14(5):e003389.


The Evolving Story in the Genetic Analysis for Heart Failure

Miyazawa K, Ito K. Front. Cardiovasc. Med., 13 April 2021.


Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.

Hartiala JA, Han Y, Jia Q, Hilser JR, Huang P, Gukasyan J, Schwartzman WS, Cai Z, Biswas S, Trégouët DA, Smith NL; INVENT Consortium; CHARGE Consortium Hemostasis Working Group; GENIUS-CHD Consortium, Seldin M, Pan C, Mehrabian M, Lusis AJ, Bazeley P, Sun YV, Liu C, Quyyumi AA, Scholz M, Thiery J, Delgado GE, Kleber ME, März W, Howe LJ, Asselbergs FW, van Vugt M, Vlachojannis GJ, Patel RS, Lyytikäinen LP, Kähönen M, Lehtimäki T, Nieminen TVM, Kuukasjärvi P, Laurikka JO, Chang X, Heng CK, Jiang R, Kraus WE, Hauser ER, Ferguson JF, Reilly MP, Ito K, Koyama S, Kamatani Y, Komuro I; Biobank Japan, Stolze LK, Romanoski CE, Khan MD, Turner AW, Miller CL, Aherrahrou R, Civelek M, Ma L, Björkegren JLM, Kumar SR, Tang WHW, Hazen SL, Allayee H. Eur Heart J. 2021 Mar 1;42(9):919-933. 


Prediction Score-Guided Genetic Testing for Hypertrophic Cardiomyopathy

Ito K, Morita H. Circ J. 2021 Apr 23;85(5):675-676. 

2020


Association of an IGHV3-66 gene variant with Kawasaki disease.

Johnson TA, Mashimo Y, Wu JY, Yoon D, Hata A, Kubo M, Takahashi A, Tsunoda T, Ozaki K, Tanaka T, Ito K, Suzuki H, Hamada H, Kobayashi T, Hara T, Chen CH, Lee YC, Liu YM, Chang LC, Chang CP, Hong YM, Jang GY, Yun SW, Yu JJ, Lee KY, Kim JJ, Park T; Korean Kawasaki Disease Genetics Consortium, Taiwan Kawasaki Disease Genetics Consortium, Taiwan Pediatric ID Alliance, Japan Kawasaki Disease Genome Consortium, Lee JK, Chen YT, Onouchi Y. J Hum Genet. 2020 Oct 26:1-15.


Population-specific and transethnic genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.

Satoshi Koyama, Kaoru Ito, Chikashi Terao, Masato Akiyama, Momoko Horikoshi, Yukihide Momozawa, Hiroshi Matsunaga, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Atsushi Takahashi, Seitaro Nomura, Hiroyuki Morita, Hiroshi Akazawa, Changhoon Kim, Jeong-sun Seo, Koichiro Higasa, Motoki Iwasaki, Taiki Yamaji, Norie Sawada, Shoichiro Tsugane, Teruhide Koyama, Hiroaki Ikezaki1, Naoyuki Takashima, Keitaro Tanaka, Kokichi Arisawa, Kiyonori Kuriki, Mariko Naito, Kenji Wakai, Shinichiro Suna, Yasuhiko Sakata, Hiroshi Sato, Masatsugu Hori, Yasushi Sakata, Koichi Matsuda, Yoshinori Murakami, Hiroyuki Aburatani, Michiaki Kubo, Fumihiko Matsuda, Yoichiro Kamatani, and Issei Komuro. Nat Genet. 2020 Oct.


Diagnosing Heart Failure from Chest X-Ray Images Using Deep Learning.

Matsumoto T, Kodera S, Shinohara H, Ieki H, Yamaguchi T, Higashikuni Y, Kiyosue A, Ito K, Ando J, Takimoto E, Akazawa H, Morita H, Komuro I. Int Heart J. 2020 Jul 30;61(4):781-786.


Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.

Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y. Nat Genet. 2020 Jul;52(7):669-679.


Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.

Matsunaga H, Ito K, Akiyama M, Takahashi A, Koyama S, Nomura S, Ieki H, Ozaki K, Onouchi Y, Sakaue S, Suna S, Ogishima S, Yamamoto M, Hozawa A, Satoh M, Sasaki M, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Tanaka K, Arisawa K, Ikezaki H, Takashima N, Naito M, Wakai K, Tanaka H, Sakata Y, Morita H, Sakata Y, Matsuda K, Murakami Y, Akazawa H, Kubo M, Kamatani Y, Komuro I. Circ Genom Precis Med. 2020 Jun;13(3):e002670.


Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis.

Kim JJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Ha KS, Sohn S, Ebata R, Hamada H, Suzuki H, Ito K, Onouchi Y, Hong YM, Jang GY, Lee JK; and the Korean Kawasaki Disease Genetics Consortium. Pharmacogenomics. 2020 Feb;20(1):80-86.

2019


A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer’s disease.

Asanomi Y, Shigemizu D, Miyashita A, Mitsumori R, Mori T, Hara N, Ito K, Niida S, Ikeuchi T, Ozaki K. Mol Med. 2019 Jun 20;25(1):20.


HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease.

Shimizu C, Kim J, Eleftherohorinou H, Wright VJ, Hoang LT, Tremoulet AH, Franco A, Hibberd ML, Takahashi A, Kubo M, Ito K, Tanaka T, Onouchi Y, Coin LJM, Levin M, Burns JC, Shike H; International Kawasaki Disease Genetic Consortium. Hum Immunol. 2019 Sep;80(9):731-738.


Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.

Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, Lunde IG, Wakimoto H, Smith AM, Toepfer CN, Getz K, Gorham J, Patel P, Ito K, Willcox JA, Arany Z, Li J, Owens AT, Govind R, Nuñez B, Mazaika E, Bayes-Genis A, Walsh R, Finkelman B, Lupon J, Whiffin N, Serrano I, Midwinter W, Wilk A, Bardaji A, Ingold N, Buchan R, Tayal U, Pascual-Figal DA, de Marvao A, Ahmad M, Garcia-Pinilla JM, Pantazis A, Dominguez F, John Baksi A, O’Regan DP, Rosen SD, Prasad SK, Lara-Pezzi E, Provencio M, Lyon AR, Alonso-Pulpon L, Cook SA, DePalma SR, Barton PJR, Aplenc R, Seidman JG, Ky B, Ware JS, Seidman CE. Circulation. 2019 Jul 2;140(1):31-41.


Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease.

Thiha K, Mashimo Y, Suzuki H, Hamada H, Hata A, Hara T, Tanaka T, Ito K, Onouchi Y; Japan Kawasaki Disease Genome Consortium. J Hum Genet. 2019 Jun;64(6):511-519.

2018


Cardiomyocyte gene programs encoding morphological and functional signatures in cardiac hypertrophy and failure.

Nomura S, Satoh M, Fujita T, Higo T, Sumida T, Ko T, Yamaguchi T, Tobita T, Naito AT, Ito M, Fujita K, Harada M, Toko H, Kobayashi Y, Ito K, Takimoto E, Akazawa H, Morita H, Aburatani H, Komuro I. Nat Commun. 2018 Oct 30;9(1):4435.


Identification of LEF1 as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age.

Kim HJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Ha KS, Sohn S, Ebata R, Hamada H, Suzuki H, Kamatani Y, Kubo M, Ito K, Onouchi Y, Hong YM, Jang GY, Lee JK. Genomics Inform. 2018 Jun;16(2):36-41.


In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing.

Patel PN, Gorham JM, Ito K, Seidman CE. Curr Protoc Hum Genet. 2018 Apr;97(1):e60.


Multi-ethnic genome-wide association study for atrial fibrillation.

Roselli C, Chaffin MD, Weng LC, Aeschbacher S, Ahlberg G, Albert CM, Almgren P, Alonso A, Anderson CD, Aragam KG, Arking DE, Barnard J, Bartz TM, Benjamin EJ, Bihlmeyer NA, Bis JC, Bloom HL, Boerwinkle E, Bottinger EB, Brody JA, Calkins H, Campbell A, Cappola TP, Carlquist J, Chasman DI, Chen LY, Chen YI, Choi EK, Choi SH, Christophersen IE, Chung MK, Cole JW, Conen D, Cook J, Crijns HJ, Cutler MJ, Damrauer SM, Daniels BR, Darbar D, Delgado G, Denny JC, Dichgans M, Dörr M, Dudink EA, Dudley SC, Esa N, Esko T, Eskola M, Fatkin D, Felix SB, Ford I, Franco OH, Geelhoed B, Grewal RP, Gudnason V, Guo X, Gupta N, Gustafsson S, Gutmann R, Hamsten A, Harris TB, Hayward C, Heckbert SR, Hernesniemi J, Hocking LJ, Hofman A, Horimoto ARVR, Huang J, Huang PL, Huffman J, Ingelsson E, Ipek EG, Ito K, Jimenez-Conde J, Johnson R, Jukema JW, Kääb S, Kähönen M, Kamatani Y, Kane JP, Kastrati A, Kathiresan S, Katschnig-Winter P, Kavousi M, Kessler T, Kietselaer BL, Kirchhof P, Kleber ME, Knight S, Krieger JE, Kubo M, Launer LJ, Laurikka J, Lehtimäki T, Leineweber K, Lemaitre RN, Li M, Lim HE, Lin HJ, Lin H, Lind L, Lindgren CM, Lokki ML, London B, Loos RJF, Low SK, Lu Y, Lyytikäinen LP, Macfarlane PW, Magnusson PK, Mahajan A, Malik R, Mansur AJ, Marcus GM, Margolin L, Margulies KB, März W, McManus DD, Melander O, Mohanty S, Montgomery JA, Morley MP, Morris AP, Müller-Nurasyid M, Natale A, Nazarian S, Neumann B, Newton-Cheh C, Niemeijer MN, Nikus K, Nilsson P, Noordam R, Oellers H, Olesen MS, Orho-Melander M, Padmanabhan S, Pak HN, Paré G, Pedersen NL, Pera J, Pereira A, Porteous D, Psaty BM, Pulit SL, Pullinger CR, Rader DJ, Refsgaard L, Ribasés M, Ridker PM, Rienstra M, Risch L, Roden DM, Rosand J, Rosenberg MA, Rost N, Rotter JI, Saba S, Sandhu RK, Schnabel RB, Schramm K, Schunkert H, Schurman C, Scott SA, Seppälä I, Shaffer C, Shah S, Shalaby AA, Shim J, Shoemaker MB, Siland JE, Sinisalo J, Sinner MF, Slowik A, Smith AV, Smith BH, Smith JG, Smith JD, Smith NL, Soliman EZ, Sotoodehnia N, Stricker BH, Sun A, Sun H, Svendsen JH, Tanaka T, Tanriverdi K, Taylor KD, Teder-Laving M, Teumer A, Thériault S, Trompet S, Tucker NR, Tveit A, Uitterlinden AG, Van Der Harst P, Van Gelder IC, Van Wagoner DR, Verweij N, Vlachopoulou E, Völker U, Wang B, Weeke PE, Weijs B, Weiss R, Weiss S, Wells QS, Wiggins KL, Wong JA, Woo D, Worrall BB, Yang PS, Yao J, Yoneda ZT, Zeller T, Zeng L, Lubitz SA, Lunetta KL, Ellinor PT. Nat Genet. 2018 Jun 11;50(9):1225-1233.


Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.

Tajima T, Morita H, Ito K, Yamazaki T, Kubo M, Komuro I, Momozawa Y. Sci Rep. 2018 May 25;8(1):8107.

2017


Male-specific association of the FCGR2A His167Arg polymorphism with Kawasaki disease.

Kwon YC, Kim JJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Ha KS, Sohn S, Ebata R, Hamada H, Suzuki H, Ito K, Onouchi Y, Hong YM, Jang GY, Lee JK; Korean Kawasaki Disease Genetics Consortium. PLoS One. 2017 Sep 8;12(9):e0184248.


A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease.

Kim JJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Ha KS, Sohn S, Johnson TA, Takahashi A, Kubo M, Tsunoda T, Ito K, Onouchi Y, Hong YM, Jang GY, Lee JK; Korean Kawasaki Disease Genetics Consortium. J Hum Genet. 2017 Dec;62(12):1023-1029.


Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, Lam L, MacRae CA, Mohiuddin SM, Fatkin D, Seidman CE, Seidman JG. Proc Natl Acad U S A. 2017 Jul 18;114(29):7689-7694.


Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.

Nomura A, Won HH, Khera AV, Takeuchi F, Ito K, McCarthy S, Emdin CA, Klarin D, Natarajan P, Zekavat SM, Gupta N, Peloso GM, Borecki IB, Teslovich TM, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Carey DJ, Murray MF, Kirchner HL, Leader JB, Lavage DR, Manus JN, Hartze DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Juang JJ, Hsiung CA, Lin SY, Wang JS, Tada H, Kawashiri MA, Inazu A, Yamagishi M, Katsuya T, Nakashima E, Nakatochi M, Yamamoto K, Yokota M, Momozawa Y, Rotter JI, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer CJ, Abecasis GR, Saleheen D, Kubo M, Kato N, Ida Chen YD, Dewey FE, Kathiresan S. Circ Res. 2017 Jun 23;121(1):81-88.


Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

Low SK, Takahashi A, Ebana Y, Ozaki K, Christophersen IE, Ellinor PT; AFGen Consortium, Ogishima S, Yamamoto M, Satoh M, Sasaki M, Yamaji T, Iwasaki M, Tsugane S, Tanaka K, Naito M, Wakai K, Tanaka H, Furukawa T, Kubo M, Ito K, Kamatani Y, Tanaka T. Nat Genet. 2017 Jun;49(6):953-958.

Japanese Review , Magazine


 ・「拡張型心筋症の精密医療 6.拡張型心筋症を遺伝的リスクスコアで階層化する」伊藤薫 心臓 2021、vol.53  No.8 P.793-797  2021年8月15日発行 〈ISSN 0586-4488〉


 ・Ⅱ、心不全における基礎研究のトピックス「オミックス解析を用いた心不全の病態解明と精密化医療」  日本臨牀「特集:心不全の診療update -最新の診断と治療ー」宮澤一雄, 伊藤薫 79巻 月刊号8 1153-1160 2021年8月1日発行


 ・特集 生活習慣病の克服に向けたゲノム医療~ゲノム医科学の進展と精密医療の実現~「虚血性心疾患ゲノム解析のstate of the art」伊藤薫 医学のあゆみ(Journal of Clinical and Experimental Medicine) vol.278 no.5, p.410-418 2021年7月31日刊行


 ・「バイオマーカーを理解する Polygenic risk score」 宮澤一雄, 伊藤薫 Cardio-Coagulation 第7巻第4号 (通巻28号) 2020年12月31日発行


 ・「薬剤性心筋障害の遺伝的背景と発症リスクの予測」 伊藤薫 腎臓内科 第12巻第6号 (通巻72号) (NEPHROLOGY Vol.12 No.6) P.726-731 2020年12月28日発行


 ・「心房細動・心原性脳梗塞症克服に向けたプレシジョン・メディシン:心房細動の遺伝的基盤の解明と精密医療の実現」 伊藤薫 日本循環器学会専門医誌 循環器専門医 (Journal of JCS Cardiologist) 第29巻 P.56-62 2020年11月25日発行


 ・オミクス解析にて広がる循環器研究 CARDIAC PRACTICE Vol.31 No.1 2020 (2020年10月号 P.15-21)


 ・バイオインフォマティクスとプレシジョンメディシン 小山智史、伊藤薫 臨床雑誌「内科」 11月号 第126巻第5号 P.983-990 2020年11月1日発行(南江堂)


 ・特集 主要循環器学ー新しい学際領域の最新知見ー「腫瘍循環器学におけるprecision medicine」 伊藤薫 日本臨床 第78巻・第9号(通巻第1183号) 2020年(2020年9月1日刊行)


 ・不整脈のゲノム解析とプレシジョン・メディシン 松永 紘、伊藤 薫 BIo Clinica VOL.35 No.9 AUG. 2020


 ・GWASとは何か?遺伝子多型によるリスク診断 小山智史、伊藤薫 循環器内科 第58巻第5号 2020年5月28日発行


 ・循環代謝とゲノム研究と心不全 伊藤薫 別冊BIO Clinica慢性炎症と疾患23号 「循環代謝」 -原始・現代・未来ー Vol.8 No.2 P105-111, 2019


 ・心疾患における最新のバイオインフォマティクス 家城博隆、伊藤薫  心臓 51-12 2019


 ・ゲノムから見たヒト心不全  伊藤薫 循環器専門医 29 16 – 22 2019年8月


 ・循環器疾患におけるゲノム解析の意義は何か  伊藤薫 「新しい臨床を開拓するための分子循環器病学」南山堂 1 – 8 2019年3月


 ・オミックス情報解析技術をどう使うか  伊藤薫 実験医学増刊号 37(5) 679 – 685 2019年3月


 ・最新の不整脈遺伝子診断法と将来の展望  伊藤薫 月刊 循環器内科 84(6) 598 – 605 2018年12月


 ・心臓リモデリングを治すprecision medicineは実現できるか? 松永紘, 伊藤薫, 赤澤宏  ハートビュー 22(9) 2018年9月


 ・機械学習によるメンデル遺伝病Variant of Unknown Significanceの解釈  伊藤薫 遺伝子医学MOOK33遺伝統計学と疾患ゲノムデータ解析 149 – 156 2018年4月


 ・Onco-Cardiologyが目指すprecision medicineとは?  伊藤薫 ハートビュー 22(2) 2018年2月


 ・バイオインフォマティクスとプレシジョン・メディシン  伊藤薫 アンチ・エイジング医学 13(5) 2017年10月


 ・バイオインフォマティクスとprecision medicine  伊藤薫 循環器内科 82(1) 63 – 69 2017年7月

Award


2022.1.

伊藤薫
Circulation Journal : Best Reviewers Award 2021

2021.11.

宮澤一雄
Council on Genomic and Precision Medicine, Early Career Investigator Award Finalist 
American Heart Association Scientific Sessions 2021

2021.2.

伊藤薫
Communications Biology Reviewer of the Month
(February 2021)

2020.10.

家城博隆
第24回日本心不全学会学術集会YIA臨床 最優秀賞