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生命医科学研究センターゲノム解析応用研究チーム

チームディレクター寺尾知可史（M.D., Ph.D）

English Page

研究概要

当研究チームは臨床応用を目標に自己免疫性疾患、血液疾患、悪性腫瘍を代表に幅広い疾患や形質を対象として、遺伝統計学・ゲノム疫学・機械学習（主に深層学習）のアプローチを用いてゲノム解析を行っています。定性的・定量的に決定されたDNA・RNA配列、SNP/SNVや構造多型を代表とした遺伝多型、エピゲノムなどのゲノム情報とそれらの解析から得られる膨大かつ多層的な情報をゲノム以外の情報と統合し、疾病や形質のメカニズムの解明・マネジメントの改善・治療法の開発へとつなげ、患者さんや社会に還元することを目指します。

研究主分野

医歯薬学

研究関連分野

生物学
人類遺伝学
遺伝・染色体動態
疫学・予防医学

キーワード

遺伝学
トランスレーショナルリサーチ
応用遺伝学
統計遺伝学
機械学習・深層学習

主要論文

1. Satoshi Koyama, Xiaoxi Liu, Yoshinao Koike, Keiko Hikino, Masaru Koido, Wei Li, Kotaro Akaki, Kohei Tomizuka, Shuji Ito, Nao Otomo, Hiroyuki Suetsugu, Soichiro Yoshino, Masato Akiyama, Kohei Saito, Yuki Ishikawa, Christian Benner, Pradeep Natarajan, Patrick T. Ellinor, Taisei Mushiroda, Momoko Horikoshi, Masashi Ikeda, Nakao Iwata, Koichi Matsuda, Biobank Japan Project, Shumpei Niida, Kouichi Ozaki, Yukihide Momozawa, Shiro Ikegawa, Osamu Takeuchi, Kaoru Ito, Chikashi Terao
"Population-specific putative causal variants shape quantitative traits"
Nature Genetics　56, pages 2027–2035 (2024)
2. Keiko Hikino, Satoshi Koyama, Kaoru Ito, Yoshinao Koike, Masaru Koido, Takayoshi Matsumura, Ryo Kurosawa, Kohei Tomizuka, Shuji Ito, Xiaoxi Liu, Yuki Ishikawa, Yukihide Momozawa, Takayuki Morisaki, Yoichiro Kamatani, The Biobank Japan Project, Taisei Mushiroda, Chikashi Terao
"RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction"
JAMA Cardiology　10.1001/jamacardio.2024.1483
3. Xiaoxi Liu, Satoshi Koyama, Kohei Tomizuka, Sadaaki Takata, Yuki Ishikawa, Shuji Ito, Shunichi Kosugi, Kunihiko Suzuki, Keiko Hikino, Masaru Koido, Yoshinao Koike, Momoko Horikoshi, Takashi Gakuhari, Shiro Ikegawa, Kochi Matsuda, Yukihide Momozawa, Kaoru Ito, Yoichiro Kamatani, Chikashi Terao*
"Decoding tri-ancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing"
Science Advances 17 Apr 2024 Vol 10, Issue 16 10.1126/sciadv.adi8419
4. Yuki Ishikawa, Nao Tanaka, Yoshihide Asano, Masanari Kodera, Yuichiro Shirai, Mitsuteru Akahoshi, Minoru Hasegawa, Takashi Matsushita, Kazuyoshi Saito, Sei-ishiro Motegi, Hajime Yoshifuji, Ayumi Yoshizaki, Tomohiro Komoto, Kae Takagi, Akira Oka, Miho Kanda, Yoshihito Tanaka, Yumi Ito, Kazuhisa Nakano, Hiroshi Kasamatsu, Akira Utsunomiya, Akiko Sekiguchi, Hiroaki Niro, Masatoshi Jinnin, Katsunari Makino, Takamitsu Makino, Hironobu Ihn, Motohisa Yamamoto, Chisako Suzuki, Hiroki Takahashi, Emi Nishida, Akimichi Morita, Toshiyuki Yamamoto, Manabu Fujimoto, Yuya Kondo, Daisuke Goto, Takayuki Sumida, Naho Ayuzawa, Hidetashi Yanagida, Tetsuya Horita, Tatsuya Atsumi, Hirahito Endo, Yoshihito Shima, Atsushi Kumanogoh, Jun Hirata, Nao Otomo, Hiroyuki Suetsugu, Yoshinao Koike, Kohei Tomizuka, Soichiro Yoshino, Xiaoxi Liu, Shuji Ito, Keiko Hikino, Akari Suzuki, Yukihide Momozawa, Shiro Ikegawa, Yoshiya Tanaka, Osamu Ishikawa, Kazuhiko Takehara, Takeshi Torii, Shinichi Sato, Yukinori Okada, Tsuneyo Mimori, Fumihiko Matsuda, Koichi Matsuda, Tiffany Amariuta, Issei Imoto, Keitaro Matsuo, Masataka Kuwana, Yasushi Kawaguchi, Koichiro Ohmura, Chikashi Terao
"GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region"
Nature Communications 15, Article number: 319 (2024)
5. Shuji Ito, Xiaoxi Liu, Yuki Ishikawa, David D. Conti, Nao Otomo, Zsofia Kote-Jarai, Hiroyuki Suetsugu, Rosalind A. Eeles, Yoshinao Koike, Keiko Hikino, Soichiro Yoshino, Kohei Tomizuka, Momoko Horikoshi, Kaoru Ito, Yuji Uchio, Yukihide Momozawa, Michiaki Kubo, The BioBank Japan Project, Yoichiro Kamatani, Koichi Matsuda, Christopher A. Haiman, Shiro Ikegawa, Hidewaki Nakagawa, Chikashi Terao,
"Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects"
Nature Communications 14, Article number: 4863 (2023)
6. Yoshinao Koike, Masahiko Takahata, Masahiro Nakajima, Nao Otomo, Hiroyuki Suetsugu, Xiaoxi Liu, Tsutomu Endo, Shiro Imagama, Kazuyoshi Kobayashi, Takashi Kaito, Satoshi Kato, Yoshiharu Kawaguchi, Masahiro Kanayama, Hiroaki Sakai, Takashi Tsuji, Takeshi Miyamoto, Hiroyuki Inose, Toshitaka Yoshii, Masafumi Kashii, Hiroaki Nakashima, Kei Ando, Yuki Taniguchi, Kazuhiro Takeuchi, Shuji Ito, Kohei Tomizuka, Keiko Hikino, Yusuke Iwasaki, Yoichiro Kamatani, Shingo Maeda, Hideaki Nakajima, Kanji Mori, Atsushi Seichi, Shunsuke Fujibayashi, Tsukasa Kanchiku, Kei Watanabe, Toshihiro Tanaka, Kazunobu Kida, Sho Kobayashi, Masahito Takahashi, Kei Yamada, Hiroshi Takuwa, Hsing-Fang Lu, Shumpei Niida, Kouichi Ozaki, Yukihide Momozawa, Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments, Masashi Yamazaki, Atsushi Okawa, Morio Matsumoto, Norimasa Iwasaki, Chikashi Terao, and Shiro Ikegawa
"Genetic insights into ossification of the posterior longitudinal ligament of the spine"
eLife Jul 18, 2023
7. Shunichi Kosugi, Yoichiro Kamatani, Katsutoshi Harada, Kohei Tomizuka, Yukihide Momozawa, Takayuki Morisaki, The Biobank Japan Project, and Chikashi Terao
"Detection of trait-associated structural variations using short read sequencing"
Cell Genomics　Volume 3, Issue 6, 14 June 2023, 100328
8. Keiko Hikino, Nao Tanaka, Masaru Koido, Kohei Tomizuka, Yoshinao Koike, Shuji Ito, Akari Suzuki, Yukihide Momozawa, Yoichiro Kamatani, The Biobank Japan Project, Taisei Mushiroda, Chikashi Terao
"Genetic architectures underlie onset age of atopic dermatitis"
Journal of Investigative Dermatology Volume 142, Issue 12, December 2022, Pages 3337-3341.e7
9. 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 27, pages 1012–1024 (2021)
10. 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