研究業績
ページタイトル画像

雑誌論文(英文)

  1. Alkhairo H, Koyama S, Iyer K, Hilliard AT, Kho PF, Clarke S, Abdulwahab FM, Assimes TL, Lynch JA, Ramsay M; Human Heredity and Health in Africa (H3Africa); VA Million Veteran Program (MVP); Chang KM, Tsao PS, Alkuraya FS, Ito K, Risch N, Tcheandjieu C. Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans. Am J Hum Genet 2026;128:S0002-9297(26)00233-8.
  2. Momoko Hamano ,   Seitaro Nomura ,   Kaoru Ito ,   Ryuichiro Nakato ,   Issei Komuro ,   Yoshihiro Yamanishi   Identifying novel Japanese heart failure variants via endothelial cis-regulatory element analysis  Bioinformatics Advances, vbag178, https://doi.org/10.1093/bioadv/vbag178 
  3. Ieki H, Ito K, Zhang S, Koyama S, Kjellberg M, Yoshida H, Kurosawa R, Matsunaga H, Miyazawa K, Enzan N, et al. Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population. Circ Genom Precis Med 2026:e005341.
  4. Haydarlou P, Kramarenko DR, Enzan N, Klevjer M, Vad OB, Corver ME, Zimmerman DS; BioBank Japan Project; Matsuda K, Diederichsen SZ, Bye A, Svendsen JH, Ito K, Ellinor PT, Bezzina CR, Jurgens SJ. Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries. Nat Commun 2026;7:e005341. doi: 10.1038/s41467-026-72708-x. Online ahead of print.
  5. Small AM, Yang TY, Itoh S, Thériault S, Dufresne L, Kurosawa R, Komuro I, Matsuda K, Vy HMT, Farber-Eger EH, Shaffer LL, Boulier KM, Corey KM, Ramaker ME, Laporte F, Schott JJ, Le Scouarnec S, Singh SA, Sonawane AR, Smith HA, Rafaels N; Colorado Center for Personalized Medicine; Ghouse J, Raja AA, Ostrowski SR, Sørensen E, Mikkelsen C, Pedersen OB, Erikstrup C, Ullum H; DBDS Genomic Consortium; Sveinbjornsson G, Gudbjartsson DF, Abner E; Estonian Biobank Research Team; Lee J, Ganna A, Nowak-Göttl U, Finer S; Genes & Health Research Team; Schumacher J, Maj C, Al-Kassou B, Nickenig G, Trenkwalder T, Dreβen M, Krane M, Nöthen MM, Moksnes MR, Brumpton BM, Knight S, Knowlton KU, Nadauld L, Debiec R, Musameh MD, Braund PS, Nelson CP, Czuba T, Melander O, Selvaraj MS, Koyama S, Bhukar R, Ruan Y, Ljungberg J, Damrauer SM, Levin MG, Franke A, Berger K, Ruff CT, Melloni GEM, Kamanu FK, Ito K, et al. Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction. Nat Genet 2026;58:57-66.
  6. Enzan N, Miyazawa K, Koyama S, Kurosawa R, Ieki H, Yoshida H, Takechi F, Fukuyama M, Osako R, Tomizuka K, Liu X, Ozaki K, Onouchi Y; BioBank Japan Project; Matsuda K, Momozawa Y, Aburatani H, Kamatani Y, Yamaguchi T, Akazawa H, Node K, Ellinor PT, Levin MG, Damrauer SM, Voight BF, Joseph J, Sun YV, Terao C, Ninomiya T, Komuro I, Ito K. Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population. Nat Commun 2025;16:9680.
  7. Nakashima K, Yamaguchi T, Takahashi Y, Otsubo T, Shichiba S, Ito K, et al. Sex differences in atrial fibrillation-related atrial remodelling assessed by electroanatomic mapping and biopsy. Eur Heart J 2025;47:217-231.
  8. Shinzato K, Takahashi Y, Yamaguchi T, Otsubo T, Nakashima K, Yoshioka G, Yokoi K, Tsuruta K, Osako R, Shichida S, Ito K, et al. Atrial amyloidosis identified by biopsy in atrial fibrillation: prevalence and clinical presentation. Eur Heart J 2025;46:3437-3449.
  9. Koide R, Nakashima Y, Kojima S, Sotomi Y, Sakata Y, Sakata Y, Ito K, Parrish NF. Pooled screening for endogenous HHV-6 in subjects with coronary artery disease. Virus Genes 2025;61:239-243.
  10. Roselli C, Surakka I, Olesen MS, Sveinbjornsson G, Marston NA, Choi SH, Holm H, Chaffin M, Gudbjartsson D, Hill MC, Ito K, et al. Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases. Nat Genet 2025;57:539-547.
  11. Otsubo T, Shinzato K, Yamaguchi T, Nakashima K, Takahashi Y, Tsuruta K, Edayoshi M, Shichida S, Osako R, Nishimura Y, Kawano Y, Yokoi K, Fukui A, Hirota K, Takigawa M, Miyazaki M, Shintani-Domoto Y, Ito K, Aoki S, Kawaguchi A, Nomura S, Sasano T, Takahashi N, Node K. Feasibility and Safety of Atrial Biopsy - Evidence From 1,000 Cases. Cardiovasc Revascularization Med 2025;7:764-773.
  12. Imai Y, Kusano K, Aiba T, Ako J, Asano Y, Harada-Shiba M, Kataoka M, Kosho T, Kubo T, Matsumura T, Ito K, et al. JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease. J Cardiol 2025;85:115-176.
  13. Flanagan J, Liu X, Ortega-Reyes D, Tomizuka K, Matoba N, Akiyama M, Koido M, Ishigaki K, Ashikawa K, Takata S, Ito K, et al. Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population. Commun Biol 2024;7:1665.
  14. Koyama S, Liu X, Koike Y, Hikino K, Koido M, Li W, Kaki K, Tomizuka K, Ito S, Otomo N, Ito K, et al. Population-specific putative causal variants shape quantitative traits. Nat Genet 2024;52:1200-1210.
  15. Li H, Duo M, Zhang Z, Weng H, Liu D, Zhang Y, Xi L, Zou B, Li H, Chen G, et al. Blood cell traits and venous thromboembolism in East Asians: Observational and genetic evidence. iScience 2024;27:110671.
  16. Hikino K, Koyama S, Ito K, Koike Y, Koido M, Matsumura T, Kurosawa R, Tomizuka K, Ito S, Liu X, et al. RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction. JAMA Cardiol 2024;9:300-308.
  17. Smith JL, Tcheandjieu C, Dikilitas O, Iyer K, Miyazawa K, Hilliard A, Lynch J, Rotter JI, et al. Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. Circ Genom Precis Med 2024;17:e004272.
  18. Liu X, Koyama S, Tomizuka K, Takata S, Ishikawa Y, Ito S, Kosugi S, Suzuki K, Hikino K, Koido M, et al. Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing. Sci Adv 2024;10:eadi8419.
  19. Ito S, Liu X, Ishikawa Y, Conti DD, Otomo N, Kote-Jarai Z, Suetsugu H, Eeles RA, Koike Y, Hikino K, et al. Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects. Nat Commun 2023;14:4863.
  20. Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, et al. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med 2023;16:224-231.
  21. Kojima S, Koyama S, Ka M, Saito Y, Parrish EH, Endo M, Takata S, Mizukoshi M, Hikino K, Takeda A, et al. Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk. Nat Genet 2023;55:939-951.
  22. Bujo S, Toko H, Ito K, Koyama S, Ishizuka M, Umei M, Yanagisawa-Murakami H, Guo J, Zhai B, et al. Low-carbohydrate diets containing plant-derived fat but not animal-derived fat ameliorate heart failure. Sci Rep 2023;13:3987.
  23. Miyazawa K, Ito K, Ito M, Zou Z, Kubota M, Nomura S, Matsunaga H, Koyama S, Ieki H, Akiyama M, et al. Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction. Nat Genet 2023;61:890-899.
  24. Marston NA, Pirruccello JP, Melloni GEM, Koyama S, Kamanu FK, Weng L, Roselli C, Kamatani Y, Komuro I, et al. Predictive Utility of a Coronary Artery Disease Polygenic Risk Score in Primary Prevention. JAMA Cardiol 2022;7:345-352.
  25. Ieki H, Ito K, Saji M, Kawakami R, Nagatomo Y, Takada K, Kariyasu T, Machida H, Koyama S, et al. Deep learning-based age estimation from chest X-rays indicates cardiovascular prognosis. Commun Med 2022;2:159.
  26. Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, Weeks EM, Wang M, Hindy G, et al. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet 2022;54:1803-1815.
  27. Koido M, Hon C, Koyama S, Kawaji H, Murakawa Y, Ishigaki K, Ito K, Sese J, Parrish NF, Kamatani Y, et al. Prediction of the cell-type-specific transcription of non-coding RNAs from genome sequences via machine learning. Nat Biomed Eng 2022;6:789-799.
  28. Thibord F, Klarin D, Brody JA, Chen M, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, et al. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Circulation 2022;146:1225-1242.
  29. Adachi Y, Ueda K, Nomura S, Ito K, Katoh M, Katagiri M, Yamada S, Hashimoto M, Zhai B, et al. Beiging of perivascular adipose tissue regulates its inflammation and vascular remodeling. Nat Commun 2022;13:5117.
  30. Tcheandjieu C, Zhu X, Hilliard AT, Clarke SL, Napolioni V, Ma S, Lee KM, Fang H, Chen F, Lu Y, et al. Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. Nat Med 2022;28:1679-1692.
  31. Pirruccello JP, Achille PD, Nauffal V, Nekoui M, Friedman SF, Klarqvist MDR, Chaffin MD, Weng L, Cunningham JW, Khurshid S, et al. Genetic analysis of right heart structure and function in 40,000 people. Nat Genet 2022;54:792-803.
  32. Miyazawa K, Ito K. Genetic Analysis for Coronary Artery Disease Toward Diverse Populations. Front Genet 2021;12:766485.
  33. Patel PN, Ito K, Willcox JAL, Haghighi A, Jang MY, Gorham JM, DePalma SR, Lam L, McDonough B, et al. Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. Circ Genom Precis Med 2021;14:e003389.
  34. Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, ..., Ito K, et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 2021;53:1415-1424.
  35. Zekavat MS, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, ... Ito K, et al. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nat Med 2021;27:1012-1024.
  36. Johnson TA, Mashimo Y, Wu J, Yoon D, Hata A, Kubo M, Takahashi A, Tsunoda T, Ozaki K, ... Ito K, et al. Association of an IGHV3-66 gene variant with Kawasaki disease. J Hum Genet 2021;66:475-489.
  37. Ito K, Morita H. Prediction Score-Guided Genetic Testing for Hypertrophic Cardiomyopathy. Circ J 2021;85:675-676.
  38. Miyazawa K, Ito K. The Evolving Story in the Genetic Analysis for Heart Failure. Front Cardiovasc Med 2021;8:646816.
  39. Hartiala JA, Han Y, Jia Q, Hilser JR, Huang P, Gukasyan J, Schwartzman WS, Cai Z, Biswas S, et al. Genome-wide analysis identifies novel susceptibility loci for myocardial infarction. Eur Heart J 2021;42:919-933.
  40. Koyama S, Ito K, Terao C, Akiyama M, Horikoshi M, Momozawa Y, Matsunaga H, Ieki H, Ozaki K, et al. Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. Nat Genet 2020;52:1169-1177.
  41. Matsumoto T, Kodera S, Shinohara H, Ieki H, Yamaguchi T, Higashikuni Y, Kiyosue A, Ito K, Ando J, Takimoto E, et al. Diagnosing Heart Failure from Chest X-Ray Images Using Deep Learning. Int Heart J 2020;61:781-786.
  42. Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low S, ... Ito K, et al. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet 2020;52:669-679.
  43. Matsunaga H, Ito K, Akiyama M, Takahashi A, Koyama S, Nomura S, Ieki H, Ozaki K, Onouchi Y, et al. Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease. Circ Genom Precis Med 2020;13:e002670.
  44. Kim J, Yun SW, Yu JJ, Yoon KL, Lee K, Kil H, Kim GB, Han M, Song MS, et al. Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis. Pharmacogenomics J 2020;20:80-86.
  45. Thiha K, Mashimo Y, Suzuki H, Hamada H, Hata A, Hara T, Tanaka T, Ito K, Onouchi Y, et al. Correction to: Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease. J Hum Genet 2019;64:1049.
  46. Shimizu C, Kim J, Eleftherohorinou H, Wright VJ, Hoang LT, Tremoulet AH, Franco A, Hibberd ML, Takahashi A, ... Ito K, et al. HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease. Hum Immunol 2019;80:731-738.
  47. Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, Lunde IG, Wakimoto H, Smith AM, Toepfer CN, Getz K, Gorham J, ... Ito K, et al. Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy. Circulation 2019;140:31-41.
  48. Asanomi Y, Shigemizu D, Miyashita A, Mitsumori R, Mori T, Hara N, Ito K, Niida S, Ikeuchi T, Ozaki K, et al. A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer's disease. Mol Med 2019;25:20.
  49. Thiha K, Mashimo Y, Suzuki H, Hamada H, Hata A, Hara T, Tanaka T, Ito K, Onouchi Y, et al. Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease. J Hum Genet 2019;64:511-519.
  50. Nomura S, Satoh M, Fujita T, Higo T, Sumida T, Ko T, Yamaguchi T, Tobita T, Naito AT, ... Ito K, et al. Cardiomyocyte gene programs encoding morphological and functional signatures in cardiac hypertrophy and failure. Nat Commun 2018;9:4435.
  51. Roselli C, Chaffin MD, Weng L, Aeschbacher S, Ahlberg G, Albert CM, Almgren P, Alonso A, Anderson CD, Aragam KG, et al. Multi-ethnic genome-wide association study for atrial fibrillation. Nat Genet 2018;50:1225-1233.
  52. Kim H, Yun SW, Yu JJ, Yoon KL, Lee K, Kil H, Kim GB, Han M, Song MS, ... Ito K, et al. Identification of LEF1 as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age. Genomics Inform 2018;16:36-41.
  53. Tajima T, Morita H, Ito K, Yamazaki T, Kubo M, Komuro I, Momozawa Y. Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese. Sci Rep 2018;8:8107.
  54. Patel PN, Gorham JM, Ito K, Seidman CE. In vivo and in vitro methods to identify DNA sequence variants that alter RNA Splicing. Curr Protoc Hum Genet 2018;97:e60.
  55. Kim J, Yun SW, Yu JJ, Yoon KL, Lee K, Kil H, Kim GB, Han M, Song MS, ... Ito K, et al. A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease. J Hum Genet 2017;62:1023-1029.
  56. Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, Lam L, MacRae CA, Mohiuddin SM, ... et al. Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. Proc Natl Acad Sci U S A 2017;114:7689-7694.
  57. Nomura A, Won H, Khera AV, Takeuchi F, Ito K, McCarthy S, Emdin CA, Klarin D, Natarajan P, ... Ito K, et al. Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease. Circ Res 2017;121:81-88.
  58. Low S, Takahashi A, Ebana Y, Ozaki K, Christophersen IE, Ellinor PT, Ogishima S, Yamamoto M, Satoh M, ... Ito K, et al. Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. Nat Genet 2017;49:953-958.
  59. Kwon Y, Kim J, Yun SW, Yu JJ, Yoon KL, Lee K, Kil H, Kim GB, Han M, ... Ito K, et al. Male-specific association of the FCGR2A His167Arg polymorphism with Kawasaki disease. PLOS ONE 2017;12:e0184248.
  60. Naik RP, Derebail VK, Grams ME, Auer PL, Peloso GM, Young BA, Lettre G, Peralta CA, ... Ito K, et al. Association of sickle cell trait with chronic kidney disease and albuminuria in African Americans. JAMA 2014;312:2115-2125.
  61. Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 2014;115:884-896.
  62. Kudo-Sakamoto Y, Akazawa H, Ito K, Takano J, Yano M, Yabumoto C, Naito AT, Oka T, Lee J, et al. Calpain-dependent cleavage of N-cadherin is involved in the progression of post-myocardial infarction remodeling. J Biol Chem 2014;289:19408-19419.
  63. Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, DePalma SR, Gupta N, Gabriel SB, ... et al. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res 2014;114:845-850.
  64. Ozasa Y, Akazawa H, Qin Y, Tateno K, Ito K, Kudo-Sakamoto Y, Yano M, Yabumoto C, Naito A, et al. Notch activation mediates angiotensin II-induced vascular remodeling by promoting the proliferation and migration of vascular smooth muscle cells. Hypertens Res 2013;36:859-865.
  65. Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, DePalma SR, Gupta N, ... et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet 2012;91:513-519.
  66. Yasuda N, Akazawa H, Ito K, Shimizu I, Kudo-Sakamoto Y, Yabumoto C, Yano M, Yamamoto R, Ozasa Y, ... et al. Agonist-Independent Constitutive Activity of Angiotensin II Receptor Promotes Cardiac Remodeling in Mice (vol 59, pg 627, 2012). Hypertension 2012;59:E51-E51.
  67. Yamamoto R, Akazawa H, Fujihara H, Ozasa Y, Yasuda N, Ito K, Kudo Y, Qin Y, Ueta Y, Komuro I. Angiotensin II type 1 receptor signaling regulates feeding behavior through anorexigenic corticotropin-releasing hormone in hypothalamus. J Biol Chem 2011;286:21458-21465.
  68. Liao C, Akazawa H, Tamagawa M, Ito K, Yasuda N, Kudo Y, Yamamoto R, Ozasa Y, Fujimoto M, ... et al. Cardiac mast cells cause atrial fibrillation through PDGF-A-mediated fibrosis in pressure-overloaded mouse hearts. J Clin Invest 2010;120:242-253.
  69. Qin Y, Yasuda N, Akazawa H, Ito K, Kudo Y, Liao C, Yamamoto R, Miura S, Saku K, Komuro I. Multivalent ligand-receptor interactions elicit inverse agonist activity of AT (1) receptor blockers against stretch-induced AT (1) receptor activation. Hypertens Res 2009;32:875-883.
  70. Ito K, Akazawa H, Tamagawa M, Furukawa K, Ogawa W, Yasuda N, Kudo Y, Liao C, Yamamoto R, Sato T, et al. PDK1 coordinates survival pathways and beta-adrenergic response in the heart. Proc Natl Acad Sci U S A 2009;106:8689-8694.
  71. Yasuda N, Miura S, Akazawa H, Tanaka T, Qin Y, Kiya Y, Imaizumi S, Fujino M, Ito K, et al. Conformational switch of angiotensin II type 1 receptor underlying mechanical stress-induced activation. EMBO Rep 2008;9:179-186.
  72. Yamamoto R, Akazawa H, Ito K, Toko H, Sano M, Yasuda N, Qin Y, Kudo Y, Sugaya T, et al. Angiotensin II type 1a receptor signals are involved in the progression of heart failure in MLP-deficient mice. Circ J 2007;71:1958-1964.