ゲノム解析応用研究チーム

PUBLICATIONS

 

Original Research

 

 

  1. Seyedeh M. Zekavat, Shu-Hong Lin, Alexander G. Bick, Aoxing Liu, Kaavya Paruchuri, Chen Wang, Mesbah Uddin, Yixuan Ye, Zhaolong Yu, Xiaoxi Liu, Yoichiro Kamatani, Romit Bhattacharya, James P. Pirruccello, Akhil Pampana, Po-Ru Loh, Puja Kohli, Steven A. McCarroll, Krzysztof Kiryluk MS, Benjamin Neale, Iuliana Ionita-Laza, Eric A. Engels, Derek W. Brown, Jordan W. Smoller, Robert Green, Elizabeth W. Karlson, Matthew Lebo, Patrick T. Ellinor, Scott T. Weiss MS, Mark J. Daly, The Biobank Japan Project, FinnGen Consortium,Chikashi Terao, Hongyu Zhao, Benjamin L. Ebert, Muredach P Reilly, Andrea Ganna, Mitchell J. Machiela, Giulio Genovese, Pradeep Natarajan Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nature Medicine. 2021 June 7. doi: 10.1038/s41591-021-01371-0
  2. Terao C*, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCarroll SA, Kubo M, Loh PR, Kamatani Y. Chromosomal alterations among age-related hematopoietic clones in Japan. Nature. 2020 Jun 24 DOI: 10.1038/s41586-020-2426-2
  3. Nakabo S, Tsuji Y, Inagaki M, Tsuji H, Nakajima T, Murakami K, Terao C, Hashimoto M, Furu M, Tanaka M, Ito H, Fujii T, Mimori T, Fujii Y. Severe joint deformity and Patient Global Assessment of Disease are associated with discrepancies between sonographic and clinical remission: A cross-sectional study of rheumatoid arthritis patients. Mod Rheumatol. 2020 Apr 3:1-23. doi: 10.1080/14397595.2020.1751922. [Epub ahead of print]
  4. Sakai K, Tanikawa C, Hirasawa A, Chiyoda T, Yamagami W, Kataoka F, Susumu N, Terao C, Kamatani Y, Takahashi A, Momozawa Y, Hirata M, Kubo M, Fuse N, Takai-Igarashi T, Shimizu A, Fukushima A, Kadota A, Arisawa K, Ikezaki H, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Aoki D, Matsuda K. Identification of a novel uterine leiomyoma GWAS locus in a Japanese population. Sci Rep. 2020 Jan 27;10(1):1197. doi: 10.1038/s41598-020-58066-8.
  5. Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team, Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB. Genetic predisposition to mosaic Y chromosome loss in blood. 　Nature. 2019 Nov;575(7784):652-657.
  6. Howles SA, Wiberg A, Goldsworthy M, Bayliss AL, Gluck AK, Ng M, Grout E, Tanikawa C, Kamatani Y, Terao C, Takahashi A, Kubo M, Matsuda K, Thakker RV, Turney BW, Furniss D. Genetic variants of calcium and vitamin D metabolism in kidney stone disease. Nat Commun. 2019 Nov 15;10(1):5175.
  7. Hikino K, Ozeki T, Koido M, Terao C, Kamatani Y, Mizukawa Y, Shiohara T, Tohyama M, Azukizawa H, Aihara M, Nihara H, Morita E, Murakami Y, Kubo M,　Mushiroda T. HLA-B*51:01 and CYP2C9*3 are risk factors for phenytoin-induced eruption in the Japanese population: analysis of data from the Biobank Japan Project. Clin Pharmacol Ther. 2019 Oct 23. doi: 10.1002/cpt.1706. [Epub ahead of print]
  8. Terao C*, Momozawa Y, Ishigaki K, Kawakami E, Akiyama M, Loh PR, Genovese G, Sugishita H, Ohta T, Hirata M, Perry JRB, Matsuda K, Murakami Y, Kubo M, Kamatani Y. GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. Nat Commun. 2019 Oct 17;10(1):4719. doi: 10.1038/s41467-019-12705-5.
  9. Hikino K, Ozeki T, Koido M, Terao C, Kamatani Y, Murakami Y, Kubo M, Mushiroda T. Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project. J Hum Genet. 2019 Dec;64(12):1195-1202.
  10. Terao C, Brynedal B, Chen Z, Jiang X, Westerlind H, Hansson M, Jakobsson PJ, Lundberg K, Skriner K, Serre G, Rönnelid J, Mathsson-Alm L, Brink M, Dahlqvist SR, Padyukov L, Gregersen PK, Barton A, Alfredsson L, Klareskog L, Raychaudhuri S. Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype. Am J Hum Genet. 2019 Sep 5;105(3):616-624.
  11. Ishikawa Y, Ikari K, Hashimoto M, Ohmura K, Tanaka M, Ito H, Taniguchi A, Yamanaka H, Mimori T, Terao C*. Shared epitope defines distinct associations of cigarette smoking with levels of anticitrullinated protein antibody and rheumatoid factor. Ann Rheum Dis. 2019 Nov;78(11):1480-1487.
  12. Terao C, Ota M, Iwasaki T, Shiokawa M, Kawaguchi S, Kuriyama K, Kawaguchi T, Kodama Y, Yamaguchi I, Uchida K, Higasa K, Yamamoto M, Kubota K, Yazumi S, Hirano K, Masaki Y, Maguchi H, Origuchi T, Matsui S, Nakazawa T, Shiomi H, Kamisawa T, Hasebe O, Iwasaki E, Inui K, Tanaka Y, Ohshima K, Akamizu T, SNakamura S, Nakamura S, Saeki T, Umehara H, 　　Shimosegawa T, Mizuno N, Kawano M, Azumi A, Takahashi H, Mimori T, Kamatani Y, Okazaki K, Chiba T, Kawa S, Matsuda F on behalf of the Japanese IgG4-Related Disease Working Consortium IgG4-related disease in the Japanese population: a genome-wide association study. The Lancet Rheumatology 2019 Sep;1(1):14-22
  13. Kou I, Otomo N, Takeda K, Momozawa Y, Lu HF, Kubo M, Kamatani Y, Ogura Y, Takahashi Y, Nakajima M, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Matsumoto M, Terao C*, Watanabe K, Ikegawa S. Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. Nat Commun. 2019 Aug 15;10(1):3685. doi: 10.1038/s41467-019-11596-w.
  14. Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nat Commun. 2019 Jun 28;10(1):2884.
  15. Molineros JE, Singh B, Terao C, Okada Y, Kaplan J, McDaniel B, Akizuki S, Sun C, Webb CF, Looger LL, Nath SK. Mechanistic Characterization of RASGRP1 Variants Identifies an hnRNP-K-Regulated Transcriptional Enhancer Contributing to SLE Susceptibility. Front Immunol. 2019 May 20;10:1066.
  16. Kosugi S, Momozawa Y, Liu X, Terao C, Kubo M, Kamatani Y. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing. Genome Biol. 2019 Jun 3;20(1):117. doi: 10.1186/s13059-019-1720-5.
  17. Molineros JE, Looger LL, Kim K, Okada Y, Terao C, Sun C, Zhou XJ, Raj P, Kochi Y, Suzuki A, Akizuki S, Nakabo S, Bang SY, Lee HS, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Zuo X, Yamamoto K, Li QZ, Shen N, Porter LL, Harley JB, Chua KH, Zhang H, Wakeland EK, Tsao BP, Bae SC, Nath SK. Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians. PLoS Genet. 2019 Apr 25;15(4):e1008092.
  18. Tanikawa C, Kamatani Y, Terao C, Usami M, Takahashi A, Momozawa Y, Suzuki K, Ogishima S, Shimizu A, Satoh M, Matsuo K, Mikami H, Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Kohri K, Yu ASL, Yasui T, Murakami Y, Kubo M, Matsuda K. Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. J Am Soc Nephrol. 2019 Apr 11.
  19. Ishikawa Y, Hashimoto M, Ito H, Tanaka M, Yukawa N, Fujii T, Yamamoto W, Mimori T, Terao C*.Anti-nuclear antibody development is associated with poor treatment response to biological disease-modifying anti-rheumatic drugs in patients with rheumatoid arthritis. Semin Arthritis Rheum. 2019 Oct;49(2):204-210.
  20. Akizuki S, Ishigaki K, Kochi Y, Law SM, Matsuo K, Ohmura K, Suzuki A, Nakayama M, Iizuka Y, Koseki H, Ohara O, Hirata J, Kamatani Y, Matsuda F, Sumida T, Yamamoto K, Okada Y, Mimori T, Terao C*. PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune-phenotypes. Ann Rheum Dis. 2019 Apr;78(4):509-518.
  21. Terao C*, Yoshifuji H, Matsumura T, Naruse TK, Ishii T, Nakaoka Y, Kirino Y, Matsuo K, Origuchi T, Shimizu M, Maejima Y, Amiya E, Tamura N, Kawaguchi T, Takahashi M, Setoh K, Ohmura K, Watanabe R, Horita T, Atsumi T, Matsukura M, Miyata T, Kochi Y, Suda T, Tanemoto K, Meguro A, Okada Y, Ogimoto A, Yamamoto M, Takahashi H, Nakayamada S, Saito K, Kuwana M, Mizuki N, Tabara Y, Ueda A, Komuro I, Kimura A, Isobe M, Mimori T, Matsuda F. Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13045-13050.
  22. Sakaue S, Hirata J, Maeda Y, Kawakami E, Nii T, Kishikawa T, Ishigaki K, Terao C, Suzuki K, Akiyama M, Suita N, Masuda T, Ogawa K, Yamamoto K, Saeki Y, Matsushita M, Yoshimura M, Matsuoka H, Ikari K, Taniguchi A, Yamanaka H, Kawaji H, Lassmann T, Itoh M, Yoshitomi H, Ito H, Ohmura K, R Forrest AR, Hayashizaki Y, Carninci P, Kumanogoh A, Kamatani Y, de Hoon M, Yamamoto K, Okada Y. Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity. Nucleic Acids Res. 2018 Dec 14;46(22):11898-11909.
  23. Tsuji H, Ikari K, Ohmura K, Yano K, Furu M, Hashimoto M, Ito H, Fujii T, Yamamoto W, Taniguchi A, Yamanaka H, Mimori T, Terao C*. A significant joint-destructive association of HLA-DRB1*04:05 independent of DAS28 in rheumatoid arthritis. Ann Rheum Dis. 2019 Feb;78(2):284-286.
  24. Matsuo T, Hashimoto M, Ito I, Kubo T, Uozumi R, Furu M, Ito H, Fujii T, Tanaka M, Terao C, Kono H, Mori M, Hamaguchi M, Yamamoto W, Ohmura K, Morita S, Mimori T. Interleukin-18 is associated with the presence of interstitial lung disease in rheumatoid arthritis: a cross-sectional study Scand J Rheumatol. 2018 (in press)
  25. Torii M, Hashimoto M, Hanai A, Fujii T, Furu M, Ito H, Uozumi R, Hamaguchi M, Terao C, Yamamoto W, Uda M, Nin K, Morita S, Arai H, Mimori T. Prevalence and factors associated with sarcopenia in patients with rheumatoid arthritis.Mod Rheumatol. 2018 Aug 9:1-17. doi: 10.1080/14397595.2018.1510565.
  26. Terao C*, Okada Y, Ikari K, Kochi Y, Suzuki A, Ohmura K, Matsuo K, Taniguchi A, Kubo M, Raychaudhuri S, Yamamoto K, Yamanaka H, Kamatani Y, Mimori T, Matsuda F. Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population. J Med Genet. 2017 Dec;54(12):853-858.
  27. Hiwa R, Ikari K, Ohmura K, Nakabo S, Matsuo K, Saji H, Yurugi K, Miura Y, Maekawa T, Taniguchi A, Yamanaka H, Matsuda F, Mimori T, Terao C*. HLA-DRB1 analysis utilizing consecutive data of rheumatoid factor (RF) identified a genetically unique subset among rheumatoid arthritis and distinct genetic background of RF levels from anti-cyclic citrullinated peptide 　antibodies J Rheumatol. 2018 Apr；45（4）：470-480.
  28. Nakajima T, Yoshifuji H, Shimizu M, Kitagori K, Murakami K, Nakashima R, Imura Y, Tanaka M, Ohmura K, Matsuda F, Terao C, Mimori T. A novel susceptibility locus in the IL12B region is associated with the pathophysiology of Takayasu arteritis through IL-12p40 and IL-12p70 production. Arthritis Res Ther. 2017 Sep 6;19(1):197.
  29. Kuramoto N, Ohmura K, Ikari K, Yano K, Furu M, Yamakawa N, Hashimoto M, Ito H, Fujii T, Murakami K, Nakashima R, Imura Y, Yukawa N, Yoshifuji H, Taniguchi A, Momohara S, Yamanaka H, Matsuda F, Mimori T, Terao C*. Anti-centromere antibody exhibits specific distribution levels among anti-nuclear antibodies and may characterize a distinct subset in rheumatoid arthritis. Sci Rep. 2017 Jul 31;7(1):6911.
  30. Tsuji H, Yano K, Furu M, Yamakawa N, Ikari K, Hashimoto M, Ito H, Fujii T, Yamamoto W, Ohmura K, Taniguchi A, Momohara S, Matsuda F, Allaart CF, Yamanaka H, Mimori T, Terao C*. Time-averaged disease activity fits better joint destruction in rheumatoid arthritis. Sci Rep. 2017 Jul 19;7(1):5856.
  31. Murata K, Fang C, Terao C, Giannopoulou EG, Lee YJ, Lee MJ, Mun SH, Bae S, Qiao Y, Yuan R, Furu M, Ito H, Ohmura K, Matsuda S, Mimori T, Matsuda F, Park-Min KH, Ivashkiv LB. Hypoxia-Sensitive COMMD1 Integrates Signaling and Cellular Metabolism in Human Macrophages and Suppresses Osteoclastogenesis. Immunity. 2017 Jul 18;47(1):66-79.e5.
  32. Hiwa R, Ohmura K, Arase N, Jin H, Hirayasu K, Kohyama M, Suenaga T, Saito F, Terao C, Atsumi T, Iwatani H, Mimori T, Arase H. Myeloperoxidase/HLA class II complexes recognized by autoantibodies in microscopic polyangiitis. Arthritis Rheumatol. 2017 Oct;69(10):2069-2080.
  33. Higasa K, Ogawa A, Terao C, Shimizu M, Kosugi S, Yamada R, Date H, Matsubara H, Matsuda F. A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. BMC Pulm Med. 2017 Apr 7;17(1):57
  34. Terao C*, Kawaguchi T, Dieude P, Varga J, Kuwana M, Hudson M, Kawaguchi Y, Matucci-Cerinic M, Ohmura K, Riemekasten G, Kawasaki A, Airo P, Horita T, Oka A, Hachulla E, Yoshifuji H, Caramaschi P, Hunzelmann N, Baron M, Atsumi T, Hassoun P, Torii T, Takahashi M, Tabara Y, Shimizu M, Tochimoto A, Ayuzawa N, Yanagida H, Furukawa H, Tohma S, Hasegawa M, Fujimoto M, Ishikawa O, Yamamoto T, Goto D, Asano Y, Jinnin M, Endo H, Takahashi H, Takehara K, Sato S, Ihn H, Raychaudhuri S, Liao K, Gregersen P, Tsuchiya N, Riccieri V, Melchers I, Valentini G, Cauvet A, Martinez M, Mimori T, Matsuda F, Allanore Y. Trans-ethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. Ann Rheum Dis. 2017 Jun;76(6):1150-1158.
  35. Hiwa R, Ohmura K, Nakabo S, Terao C, Murakami K, Nakashima R, Imura Y, Yukawa N, Yoshifuji H, Hashimoto M, Furu M, Ito H, Fujii T, Mimori T. Only rheumatoid factor-positive subset of anti-citrullinated peptide/protein antibody-negative rheumatoid arthritis may seroconvert to anti-citrullinated peptide/protein antibody-positive.Int J Rheum Dis. 2017 Jun;20(6):731-736.