超精密個別化ゲノム解析法の開発による遺伝性疾患の病因病態解明

• Project/Area Number: 23K21722
• Project/Area Number (Other): 21H03548 (2021-2023)
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Multi-year Fund (2024); Single-year Grants (2021-2023)
• Section: 一般
• Review Section: Basic Section 62010:Life, health and medical informatics-related
• Research Institution: Kansai Medical University
• Principal Investigator: 日笠 幸一郎 関西医科大学, 医学部, 教授 (10419583)
• Project Period (FY): 2021-04-01 – 2025-03-31
• Project Status: Granted (Fiscal Year 2024)
• Budget Amount: ¥16,900,000 (Direct Cost: ¥13,000,000、Indirect Cost: ¥3,900,000); Fiscal Year 2024: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000); Fiscal Year 2023: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000); Fiscal Year 2022: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2021: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
• Keywords: ヒトゲノム多様性 / ヒトゲノム構造多様性

Outline of Research at the Start

近年の遺伝性疾患の原因遺伝子診断率は30%程度であり、変異に応じた個別化医療を推進する上で、その改善が喫緊の課題となっている。本研究では、「高次構造型ヒトゲノム参照配列」の構築という課題に挑戦し、現行のヒトゲノム参照配列に基づく解析では検出が困難である病因変異の解明に貢献することを目指す。本研究の遂行により、現行の参照配列情報では捉えきれない未解決の遺伝性疾患症例を対象に原因遺伝子変異の同定が進み、遺伝子診断率の向上とゲノム情報に基づく個別化医療の進展に繋がることが期待される。

Outline of Annual Research Achievements

本年度も、ロングリード（長鎖）シークエンサーを用いて、高精度のヒトハプロイドゲノムを構築することを目的とし、継続的にハプロイドゲノムの収集を行うとともに、２倍体ゲノムからの高分子DNAを抽出し解析を進めた。昨年度実施したOxford Nanopore PromethIONを用いたシークエンスに加え、PacBio Revio systemを用いて、高精度ロングリード配列（HiFi read）を生成し、総塩基数88Gb、N50値17.6kbを得た。NanoporeおよびPacBioのデータを統合してhybrid haplotype aware de novo assemblyを行ったところ、最大scaffold 136.9Mb、N50=57.7Mbのハプロタイプ1、及び、最大scaffold 146.7Mb、N50=50.5Mbのハプロタイプ2から構成される高精度ディプロタイプゲノムが構築された。全ゲノム解析が完了している3,000検体から抽出した構造変異情報を構築したディプロタイプゲノムに統合して高次元化を行った。従来のヒトゲノム参照配列を利用したマッピング結果と比較して、構造変異の検出精度が改善されることが示された。次年度は、全ゲノム情報の拡充やT2Tコンソーシアムから一昨年4月に公開された最新のヒトゲノム参照配列との比較検討、及び、構築した参照配列を基軸に疾患症例の全ゲノム解析を実施し、未知の原因変異の特定や、発症の予防・早期スクリーニングに役立つ知見の収集に努める。また、スクリーニングに際しては、NanoporeのMinIONを用いたadaptive sequenceの利活用を進める方針である。

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

本年度は、高精度のロングリードシークエンス配列を追加解析し、日本人ディプロタイプ参照配列の構築、及び、その高次元化を進めた。未知の原因変異の特定が期待できる精度で構築できたことから、この参照配列情報に基づいて様々な疾患の原因変異の特定に活用できる段階に至っており、当初の計画通り順調に進んでいる。

Strategy for Future Research Activity

本年度は、NanoporeおよびPacBioシークエンサーを用いたロングリードシークエンス解析を進め、haplotype aware de novo assemblyによって高精度日本人ディプロタイプゲノム参照配列を構築した。次年度は、日本人ゲノムの網羅性を高めるため、全ゲノム解析対象検体を1万検体まで追加し、統合する予定である。また、構築した参照配列を基軸に疾患症例の全ゲノム解析を実施し、未知の原因変異の特定や、早期スクリーニングに役立つ知見の収集に努める。

Research Products

• [Journal Article] OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking. (2024)
  • Author(s): Hayashi S, Seki-Omura R, Yamada S, Kamata T, Sato Y, Oe S, Koike T, Nakano Y, Iwashita H, Hirahara Y, Tanaka S, Sekijima T, Ito T, Yasukochi Y, Higasa K, Kitada M.
  • Journal Title: Gene Volume: 891 Pages: 7829-7829
  • DOI: 10.1016/j.gene.2023.147829
  • Peer Reviewed
• [Journal Article] Adenoid Ameloblastoma with BRAF p.V600E Mutation Revealing Ameloblastomatous Origin: A First Case Report (2023)
  • Author(s): Noda Yuri、Sawada Shunsuke、Sakagami Tomofumi、Kojima Yuka、Higasa Koichiro、Tsuta Koji
  • Journal Title: Head and Neck Pathology Volume: 17 Issue: 3 Pages: 788-792
  • DOI: 10.1007/s12105-023-01555-9
  • Peer Reviewed
• [Journal Article] Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase (2023)
  • Author(s): Maki Kobayashi, Hiroyuki Wakaguri, Masakazu Shimizu, Koichiro Higasa, Fumihiko Matsuda, and Tasuku Honjo
  • Journal Title: PNAS USA Volume: 120 (18) e2216918120 h Issue: 18
  • DOI: 10.1073/pnas.2216918120
  • Peer Reviewed / Open Access
• [Journal Article] OLIG2 is an in vivo bookmarking transcription factor in the developing neural tube in mouse (2023)
  • Author(s): Hayashi Shinichi、Oe Souichi、Koike Taro、Seki‐Omura Ryohei、Nakano Yosuke、Hirahara Yukie、Tanaka Susumu、Ito Takeshi、Yasukochi Yoshiki、Higasa Koichiro、Kitada Masaaki
  • Journal Title: Journal of Neurochemistry Volume: - Issue: 3 Pages: 303-317
  • DOI: 10.1111/jnc.15746
  • Peer Reviewed / Open Access
• [Journal Article] Rap1 organizes lymphocyte front-back polarity via RhoA signaling and talin1 (2023)
  • Author(s): Ueda Yoshihiro、Higasa Koichiro、Kamioka Yuji、Kondo Naoyuki、Horitani Shunsuke、Ikeda Yoshiki、Bergmeier Wolfgang、Fukui Yoshinori、Kinashi Tatsuo
  • Journal Title: iScience Volume: 26 Issue: 8 Pages: 107292-107292
  • DOI: 10.1016/j.isci.2023.107292
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy (2023)
  • Author(s): Ueda Hiroko、Tran Quynh Thuy Huong、Tran Linh Nguyen Truc、Higasa Koichiro、Ikeda Yoshiki、Kondo Naoyuki、Hashiyada Masaki、Sato Chika、Sato Yoshinori、Tsukaguchi Hiroyasu
  • Journal Title: Scientific Reports Volume: 13 Issue: 1 Pages: 12003-12003
  • DOI: 10.1038/s41598-023-38588-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Changes in Multiple microRNA Levels with Antidepressant Treatment Are Associated with Remission and Interact with Key Pathways: A Comprehensive microRNA Analysis (2023)
  • Author(s): Funatsuki Toshiya、Ogata Haruhiko、Tahara Hidetoshi、Shimamoto Akira、Takekita Yoshiteru、Koshikawa Yosuke、Nonen Shinpei、Higasa Koichiro、Kinoshita Toshihiko、Kato Masaki
  • Journal Title: International Journal of Molecular Sciences Volume: 24 Issue: 15 Pages: 12199-12199
  • DOI: 10.3390/ijms241512199
  • Peer Reviewed / Open Access
• [Journal Article] Relationship between circulating mitochondrial DNA and microRNA in patients with major depression (2023)
  • Author(s): Ogata Haruhiko、Higasa Koichiro、Kageyama Yuki、Tahara Hidetoshi、Shimamoto Akira、Takekita Yoshiteru、Koshikawa Yosuke、Nonen Shinpei、Kato Tadafumi、Kinoshita Toshihiko、Kato Masaki
  • Journal Title: Journal of Affective Disorders Volume: 339 Pages: 538-546
  • DOI: 10.1016/j.jad.2023.07.073
  • Peer Reviewed / Open Access
• [Journal Article] Raman Multi-Omic Snapshot and Statistical Validation of Structural Differences between Herpes Simplex Type I and Epstein?Barr Viruses (2023)
  • Author(s): Pezzotti Giuseppe、Ohgitani Eriko、Imamura Hayata、Ikegami Saki、Shin-Ya Masaharu、Adachi Tetsuya、Adachi Keiji、Yamamoto Toshiro、Kanamura Narisato、Marin Elia、Zhu Wenliang、Higasa Koichiro、Yasukochi Yoshiki、Okuma Kazu、Mazda Osam
  • Journal Title: International Journal of Molecular Sciences Volume: 24 Issue: 21 Pages: 15567-15567
  • DOI: 10.3390/ijms242115567
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Raman Fingerprints of SARS-CoV-2 Omicron Subvariants: Molecular Roots of Virological Characteristics and Evolutionary Directions (2023)
  • Author(s): Pezzotti Giuseppe、Ohgitani Eriko、Fujita Yuki、Imamura Hayata、Pappone Francesco、Grillo Alfio、Nakashio Maiko、Shin-Ya Masaharu、Adachi Tetsuya、Yamamoto Toshiro、Kanamura Narisato、Marin Elia、Zhu Wenliang、Inaba Tohru、Tanino Yoko、Nukui Yoko、Higasa Koichiro、Yasukochi Yoshiki、Okuma Kazu、Mazda Osam
  • Journal Title: ACS Infectious Diseases Volume: 9 Issue: 11 Pages: 2226-2251
  • DOI: 10.1021/acsinfecdis.3c00312
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Dysbiosis of the gut microbiota as a susceptibility factor for Kawasaki disease (2023)
  • Author(s): Teramoto Yoshiki、Akagawa Shohei、Hori Shin-ichiro、Tsuji Shoji、Higasa Koichiro、Kaneko Kazunari
  • Journal Title: Frontiers in Immunology Volume: 14 Pages: 1268453-1268453
  • DOI: 10.3389/fimmu.2023.1268453
  • Peer Reviewed / Open Access
• [Journal Article] Successful pregnancy and delivery in a young-onset hypertrophic cardiomyopathy patient with a novel doublet-base substitution in the MYH7 gene (2023)
  • Author(s): Miyawaki Norihisa、Toyota Toshiaki、Higasa Koichiro、Nakamura Tomoyuki、Furukawa Yutaka
  • Journal Title: Journal of Cardiology Cases Volume: 27 Issue: 1 Pages: 8-11
  • DOI: 10.1016/j.jccase.2022.09.010
  • Peer Reviewed
• [Journal Article] Deep learning-based predictions of clear and eosinophilic phenotypes in clear cell renal cell carcinoma (2023)
  • Author(s): Ohe C, Yoshida T, Amin MB, Uno R, Atsumi N, Yasukochi Y, Ikeda J, Nakamoto T, Noda Y, Kinoshita H, Tsuta K, Higasa K.
  • Journal Title: Human Pathology Volume: 131 Pages: 68-78
  • DOI: 10.1016/j.humpath.2022.11.004
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Areas of Crush Nuclear Streaming Should Be Included as Tumor Content in the Era of Molecular Diagnostics (2023)
  • Author(s): Noda Yuri、Yamaka Ryosuke、Atsumi Naho、Higasa Koichiro、Tsuta Koji
  • Journal Title: Cancers Volume: 15 Issue: 6 Pages: 1910-1910
  • DOI: 10.3390/cancers15061910
  • Peer Reviewed / Open Access
• [Journal Article] Multiple Pre-Treatment miRNAs Levels in Untreated Major Depressive Disorder Patients Predict Early Response to Antidepressants and Interact with Key Pathways. (2022)
  • Author(s): Kato M, Ogata H, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nishida K, Nonen S, Higasa K, Kinoshita T.
  • Journal Title: International Journal of Molecular Sciences. Volume: 23 Issue: 7 Pages: 3873-3873
  • DOI: 10.3390/ijms23073873
  • Peer Reviewed / Open Access
• [Journal Article] Accelerated Angiogenesis of Human Umbilical Vein Endothelial Cells Under Negative Pressure Was Associated With the Regulation of Gene Expression Involved in the Proliferation and Migration (2022)
  • Author(s): Fukui Michika、Matsuoka Yuki、Taketani Shigeru、Higasa Koichiro、Hihara Masakatsu、Kuro Atsuyuki、Kakudo Natsuko
  • Journal Title: Annals of Plastic Surgery Volume: 89 Issue: 6 Pages: e51-e59
  • DOI: 10.1097/sap.0000000000003298
  • Peer Reviewed
• [Journal Article] Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy (2022)
  • Author(s): Yoshioka Wakako、Iida Aritoshi、Sonehara Kyuto、Yamamoto Kazuki、Oya Yasushi、Mori-Yoshimura Madoka、Kurashige Takashi、Okubo Mariko、Ogawa Megumu、Matsuda Fumihiko、Higasa Koichiro、Hayashi Shinichiro、Nakamura Harumasa、Sekijima Masakazu、Okada Yukinori、Noguchi Satoru、Nishino Ichizo
  • Journal Title: Scientific Reports Volume: 12 Issue: 1 Pages: 21806-21806
  • DOI: 10.1038/s41598-022-26419-0
  • Peer Reviewed / Open Access
• [Journal Article] Histologic-based tumor-associated immune cells status in clear cell renal cell carcinoma correlates with gene signatures related to cancer immunity and clinical outcomes (2022)
  • Author(s): Ohe C, Yoshida T, Ikeda J, Tsuzuki T, Ohashi R, Ohsugi H, Atsumi N, Yamaka R, Saito R, Yasukochi Y, Higasa K, Kinoshita H and Tsuta K.
  • Journal Title: Biomedicines Volume: 10 Issue: 2 Pages: 323-323
  • DOI: 10.3390/biomedicines10020323
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] PBRM1 Immunohistochemical Expression Profile Correlates with Histomorphological Features and Endothelial Expression of Tumor Vasculature for Clear Cell Renal Cell Carcinoma (2022)
  • Author(s): Saiga K*, Ohe C* (*equally contributed), Yoshida T, Ohsugi H, Ikeda J, Atsumi N, Noda Y, Yasukochi Y, Higasa K, Taniguchi H, Kinoshita H, Tsuta K.
  • Journal Title: Cancers (Basel) Volume: 14 Issue: 4 Pages: 1062-1062
  • DOI: 10.3390/cancers14041062
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Development and validation of a vascularity-based architectural classification for clear cell renal cell carcinoma: correlation with conventional pathological prognostic factors, gene expression patterns, and clinical outcomes (2021)
  • Author(s): Ohe C, Yoshida T, Amin MB, Atsumi N, Ikeda J, Saiga K, Noda Y, Yasukochi Y, Ohashi R, Ohsugi H, Higasa K, Kinoshita H and Tsuta K
  • Journal Title: Mod Pathol Volume: － Issue: 6 Pages: 816-824
  • DOI: 10.1038/s41379-021-00982-9
  • Peer Reviewed / Open Access
• [Journal Article] Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN (2021)
  • Author(s): Mizobuchi Kei、Hayashi Takaaki、Oishi Noriko、Kubota Daiki、Kameya Shuhei、Higasa Koichiro、Futami Takuma、Kondo Hiroyuki、Hosono Katsuhiro、Kurata Kentaro、Hotta Yoshihiro、Yoshitake Kazutoshi、Iwata Takeshi、Matsuura Tomokazu、Nakano Tadashi
  • Journal Title: Journal of Clinical Medicine Volume: 10 Issue: 11 Pages: 2265-2265
  • DOI: 10.3390/jcm10112265
  • Peer Reviewed / Open Access
• [Journal Article] Eosinophilic features in clear cell renal cell carcinoma correlate with outcomes of immune checkpoint and angiogenesis blockade (2021)
  • Author(s): Yoshida T, Ohe C, Ikeda J, Atsumi N, Ohsugi H, Sugi M, Higasa K, Saito R, Tsuta K, Matsuda T, Kinoshita H.
  • Journal Title: J Immunother Cancer . Volume: 9 Issue: 9 Pages: e002922-e002922
  • DOI: 10.1136/jitc-2021-002922
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Population dynamics in the Japanese Archipelago since the Pleistocene revealed by the complete mitochondrial genome sequences. (2021)
  • Author(s): Mizuno, F., Gojobori, J., Kumagai, M., Baba, H., Taniguchi, Y., Kondo, O., Matsushita, M., Matsushita, T., Matsuda, F., Higasa, K., Hayashi, M., Wang, L., Kurosaki, K. and Ueda, S.
  • Journal Title: Scientific Reports Volume: 11 Issue: 1 Pages: 1-11
  • DOI: 10.1038/s41598-021-91357-2
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Thiazoline-related innate fear stimuli orchestrate hypothermia and anti-hypoxia via sensory TRPA1 activation (2021)
  • Author(s): Matsuo Tomohiko、Isosaka Tomoko、Hayashi Yuichiro、Tang Lijun、Doi Akihiro、Yasuda Aiko、Hayashi Mikio、Lee Chia-Ying、Cao Liqin、Kutsuna Natsumaro、Matsunaga Sachihiro、Matsuda Takeshi、Yao Ikuko、Setou Mitsuyoshi、Kanagawa Dai、Higasa Koichiro、Ikawa Masahito、Liu Qinghua、Kobayakawa Reiko、Kobayakawa Ko
  • Journal Title: Nature Communications Volume: 12 Issue: 1 Pages: 2074-2074
  • DOI: 10.1038/s41467-021-22205-0
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease (2021)
  • Author(s): Kanda Saki、Fujii Yoshimitsu、Hori Shin-ichiro、Ohmachi Taichi、Yoshimura Ken、Higasa Koichiro、Kaneko Kazunari
  • Journal Title: Children Volume: 8 Issue: 6 Pages: 433-433
  • DOI: 10.3390/children8060433
  • Peer Reviewed / Open Access
• [Journal Article] PDK2 leads to cisplatin resistance through suppression of mitochondrial function in ovarian clear cell carcinoma (2021)
  • Author(s): Kitamura S, Yamaguchi K, Murakami R, Furutake Y, Higasa K, Abiko K, Hamanishi J, Baba T, Matsumura N, Mandai M.
  • Journal Title: Cancer Sci. Volume: 112 Issue: 11 Pages: 4627-4640
  • DOI: 10.1111/cas.15125
  • Peer Reviewed / Open Access
• [Journal Article] Positive renal familial history in IgA nephropathy is associated with worse renal outcomes: a single-center longitudinal study (2021)
  • Author(s): Sato Yoshinori、Tsukaguchi Hiroyasu、Higasa Koichiro、Kawata Naoto、Inui Kiyoko、Linh Tran Nguyen Truc、Quynh Tran Thuy Huong、Yoshihiko Inoue、Koiwa Fumihiko、Yoshimura Ashio
  • Journal Title: BMC Nephrology Volume: 22 Issue: 1 Pages: 490-502
  • DOI: 10.1186/s12882-021-02425-8
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data (2020)
  • Author(s): Okada Daigo、Nakamura Naotoshi、Setoh Kazuya、Kawaguchi Takahisa、Higasa Koichiro、Tabara Yasuharu、Matsuda Fumihiko、Yamada Ryo
  • Journal Title: Journal of Human Genetics Volume: 66 Issue: 6 Pages: 557-567
  • DOI: 10.1038/s10038-020-00874-x
  • Peer Reviewed / Open Access
• [Presentation] 全ゲノム解析にて特定した tubulin 遺伝子の変異を有する難治性脳形成障害 (2023)
  • Author(s): 埜中正博, 日笠幸一郎, 小森裕美子, 磯﨑春奈, 淺井昭雄
  • Organizer: 第65回日本小児神経学会学術集会
• [Presentation] 全ゲノム解析を用いた難治性脳形成障害の遺伝子異常検索 (2023)
  • Author(s): 埜中正博, 日笠浩一郎, 小森裕美子, 磯﨑春奈, 淺井昭雄
  • Organizer: 第51回日本小児神経外科学会
• [Presentation] 本邦のうつ病患者における疾患発症に関するゲノムワイド関連解析 (2023)
  • Author(s): 島本優太郎, 安河内彦輝, 村瀬雄士, 山本敦子, 内藤みなみ, 越川陽介, 舩槻紀也, 緒方治彦, 嶽北佳輝, 木下利彦, 日笠幸一郎, 加藤正樹
  • Organizer: 第20回日本うつ病学会総会/第39回日本ストレス学会・学術総会
• [Presentation] ゲノム解析に基づく北河内医療圏における新型コロナ ウイルス変異株の時空間分布解 (2023)
  • Author(s): 安河内彦輝，下埜敬紀，神田靖士，上野孝治，宮下修行，甲田勝康，藤澤順一，大隈和，神田晃，西山利正，大橋順，中森靖，日笠幸一郎
  • Organizer: 日本進化学会第25回沖縄大会
• [Presentation] 本邦のうつ病患者における疾患発症、薬物治療反応性に関するゲノムワイド関連解析 (2023)
  • Author(s): 島本優太郎, 安河内彦輝, 村瀬雄士, 越川陽介, 舩槻紀也, 緒方治彦, 嶽北佳輝, 木下利彦, 日笠幸一郎, 加藤正樹
  • Organizer: 第45回日本生物学的精神医学会
• [Presentation] マウス脊髄損傷へのイモリ型脊髄再生原理の導入へ向けて (2023)
  • Author(s): 林真一、関亮平、大江総一、小池太郎、中野洋輔、伊藤健、安河内彦輝、日笠幸一郎、北田容章
  • Organizer: 両生類研究センターバイオリソース棟落成記念シンポジウム
• [Presentation] マウス脊髄損傷へのイモリ型脊髄再生原理の導入へ向けて (2023)
  • Author(s): 林真一、関亮平、大江総一、小池太郎、中野洋輔、伊藤健、安河内彦輝、日笠 幸一郎、北田容章
  • Organizer: 日本解剖学会総会・全国学術集会
• [Presentation] マウス脊髄損傷へのイモリ型脊髄再生原理の導入へ向けて (2023)
  • Author(s): 林真一、関亮平、大江総一、小池太郎、中野洋輔、伊藤健、安河内彦輝、日笠幸一郎、北田容章
  • Organizer: 日本再生医療学会総会
• [Presentation] Multi-dimensional analyses of the pathomechanism of GNE myopathy with non-catalytic site variant, GNE: c.620A>T (2022)
  • Author(s): Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino
  • Organizer: Myology
  • Int'l Joint Research
• [Presentation] Gut microbiota as a factor underlying Kawasaki disease susceptibility (2022)
  • Author(s): Yoshiki Teramoto , Shohei Akagawa , Yuko Akagawa , Shin-ichiro Hori , Sohsaku Yamanouchi , Shoji Tsuji , Koichiro Higasa , Kazunari Kaneko
  • Organizer: International Human Microbiome Consortium 9thCongress
• [Presentation] 本邦のうつ病患者における疾患発症、重症度、薬物治療反応性に関するゲノムワイド関連解析（GWAS) (2022)
  • Author(s): 島本優太郎, 安河内彦輝, 村瀬雄士, 越川陽介, 舩槻紀也, 緒方治彦, 嶽北佳輝, 木下利彦, 日笠幸一郎, 加藤正樹
  • Organizer: BPCNPNPPP4学会合同年会
• [Presentation] 本邦のうつ病患者における疾患発症、薬物治療反応性に関するゲノムワイド関連解析（GWAS) (2022)
  • Author(s): 島本優太郎, 安河内彦輝, 村瀬雄士, 越川陽介, 舩槻紀也, 緒方治彦, 嶽北佳輝, 木下利彦, 日笠幸一郎, 加藤正樹
  • Organizer: 第41回躁うつ病の薬理・生化学的研究懇話会
• [Presentation] 本邦のうつ病患者と健常者サンプルを用いたゲノムワイド関連解析（GWAS） (2022)
  • Author(s): 島本優太郎, 安河内彦輝, 村瀬雄士, 越川陽介, 舩槻紀也, 緒方治彦, 木下利彦, 日笠幸一郎, 加藤正樹
  • Organizer: 第19回日本うつ病学会総会／第5回日本うつ病リワーク協会年次大会【合同開催】
• [Presentation] 日本人におけるRP1関連網膜症の遺伝的、臨床的特徴について (2021)
  • Author(s): 溝渕圭、林孝彰、林孝彰、大石典子、亀谷修平、日笠幸一郎、二見拓磨、近藤寛之、細野克博、倉田健太郎、堀田喜裕、吉武和敏、岩田岳、中野匡
  • Organizer: 第125回日本眼科学会
• [Presentation] Novel double missense mutation at the same codon in the MYH7 gene in a patient with hypertrophic cardiomyopathy. (2021)
  • Author(s): Miyawaki N, Toyota T, Kim K, Kitai T, Kaji S, Higasa K, Nakamura T, Furukawa Y.
  • Organizer: European Society of Cardiology
  • Int'l Joint Research
• [Presentation] GNE pathogenic variant p.D207V rarely develops myopathy in homozygote (2021)
  • Author(s): Yoshioka W, Sonehara K, Iida A, Oya Y, Kurashige T, Okubo M, Ogawa M, Matsuda F, Higasa K, Mori-Yoshimura M, Nakamura H, Hayashi S, Okada Y, Noguchi S, Nishino I.
  • Organizer: World Muscle Society
  • Int'l Joint Research
• [Presentation] 陰圧が血管内皮細胞（HUVEC）に与える影響：次世代シーケンサーを用いた遺伝子発現の網羅的解析 (2021)
  • Author(s): 福井充香、日笠幸一郎、竹谷茂、光井俊人、松岡祐貴、日原正勝、孫仲鑫、覚道奈津子
  • Organizer: 第30回日本形成外科学会基礎学術集会
• [Book] 遺伝子医学 (2022)
  • Author(s): 日笠幸一郎
  • Total Pages: 6
  • Publisher: メディカルドゥ
  • ISBN: 9784909508171
• [Remarks] 腸内細菌叢の乱れが川崎病発症リスクか 川崎病に罹患後1年が経過した子どもの腸内細菌叢の特徴を解明
  • URL: https://www.kmu.ac.jp/news/laaes7000000qtwg-att/20231107Press_Release.pdf
• [Remarks] 低分子GタンパクRap1による T細胞の前後細胞極性形成メカニズムを発見
  • URL: https://www.kmu.ac.jp/news/laaes7000000qvyd-att/20231109Press_Release.pdf
• [Remarks] 世界で初めてうつ病におけるmiRNAとmtDNAとの関連を示す
  • URL: https://www.kmu.ac.jp/news/laaes7000000q6ps-att/20230915Press_Release.pdf
• [Remarks] 世界で初めて網羅的にmiRNAを解析し抗うつ薬の予測に有用であることを示す
  • URL: https://www.kmu.ac.jp/news/laaes7000000kr5t-att/20220518Press_Release.pdf
• [Remarks] 淡明細胞型腎細胞癌の形態を解明、新分類法確立
  • URL: https://www.kmu.ac.jp/news/laaes7000000hz09-att/20211022Press_Release.pdf