Preparation and Application of Y chromosome Panel using BirThree Cohort Men

• Project/Area Number: 18H02940
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 56040:Obstetrics and gynecology-related
• Research Institution: Tohoku University
• Principal Investigator: Suzuki Kichiya 東北大学, 東北メディカル・メガバンク機構, 教授 (30422116)
• Co-Investigator(Kenkyū-buntansha): 黒木 陽子 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 室長 (10344037) ; 立花 眞仁 東北大学, 大学病院, 准教授 (30431571) ; 勝岡 史城 東北大学, 東北メディカル・メガバンク機構, 教授 (30447255) ; 田高 周 東北大学, 東北メディカル・メガバンク機構, 助教 (60815463) ; 栗山 進一 東北大学, 災害科学国際研究所, 教授 (90361071) ; 長崎 正朗 京都大学, スーパーグローバルコース医学生命系ユニット, 特定教授 (90396862)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Project Status: Completed (Fiscal Year 2020)
• Budget Amount: ¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000); Fiscal Year 2020: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000); Fiscal Year 2019: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000); Fiscal Year 2018: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
• Keywords: 男性不妊 / ゲノム解析 / リファレンスパネル / 精子 / Y染色体 / SNP / 精液 / DNAパネル

Outline of Final Research Achievements

More than 10% of the causes of infertility are considered to be male factors, and genomic abnormalities are attracting attention as one of the causes. The purpose of this study was to construct a reference panel related to fertility based on the genomic basis cultivated so far. A reference panel derived from a male with fertility was created from the whole genome data held by the Tohoku Medical Megabank Organization, and the whole genome data obtained from 17 semen samples of male infertility patients was used for the subsequent analysis. However, in the end, 180K SNPs were detected, and 11K of AF>0.8 were detected. This result will be an important platform for the genome analysis of male infertility in the future.

Academic Significance and Societal Importance of the Research Achievements

我々の所属する東北大学東北メディカル・メガバンク機構は、被災地復興のための次世代医療の開発に主眼を置いており、被災地の復興には地域コミュニティの復興も重要であると考え、その一翼として生殖医療研究の基盤としてゲノム解析の重要性を認識して来た。本研究により、健常人コホート由来のリファレンスパネルよりさらに妊孕性に着目したリファレンスパネルを作成し男性不妊症患者の全ゲノム解析に供した結果、多くの原因遺伝子SNPが同定されたが、この成果は今後の生殖医療領域における重要なゲノム基盤となりうることを示している。

Research Products

• [Journal Article] Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study (2021)
  • Author(s): Hozawa A, Tanno K, Nakaya N, Nakamura T, Tsuchiya N, Hirata T, Narita A, Kogure M, Nochioka K, Sasaki R, Takanashi N, Otsuka K, Sakata K, Kuriyama S, Kikuya M, 13名略, Kobayashi T, 53名略, Yamamoto M.
  • Journal Title: Journal of Epidemiology Volume: 31 Issue: 1 Pages: 65-76
  • DOI: 10.2188/jea.JE20190271
  • NAID: 130007966030
  • ISSN: 0917-5040, 1349-9092
  • Year and Date: 2021-01-05
  • Peer Reviewed / Open Access
• [Journal Article] Design and Progress of Oral Health Examinations in the Tohoku Medical Megabank Project (2020)
  • Author(s): Tsuboi, A., et al., Koshiba, S., et al., Yamamoto, M.（合計33名、本研究者は20番目）
  • Journal Title: The Tohoku Journal of Experimental Medicine Volume: 251 Issue: 2 Pages: 97-115
  • DOI: 10.1620/tjem.251.97
  • NAID: 130007858973
  • ISSN: 0040-8727, 1349-3329
  • Peer Reviewed / Open Access
• [Journal Article] Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases (2020)
  • Author(s): Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Yamaji T, et al
  • Journal Title: Nature Genetics Volume: 52 Issue: 7 Pages: 669-679
  • DOI: 10.1038/s41588-020-0640-3
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population (2019)
  • Author(s): Tanikawa Chizu、...、Ogishima Soichi、...、Matsuda Koichi
  • Journal Title: Journal of the American Society of Nephrology Volume: 印刷中 Issue: 5 Pages: 855-864
  • DOI: 10.1681/asn.2018090942
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] GWAS identifies nine nephrolithiasis susceptibility loci related with metabolic and crystallization pathways (2019)
  • Author(s): Tanikawa C, Kamatani Y, Terao C, Usami M, Takahashi A, Momozawa Y, Suzuki K, Ogishima S, Shimizu A, Mamoru Satoh M, Matsuo K, Mikami H, Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Kohri K, Yasui T, Murakami Y, Kubo M, Matsuda K.
  • Journal Title: bioRxiv Volume: 13 Pages: 1-1
  • DOI: 10.1101/519553
  • Open Access
• [Journal Article] 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population (2019)
  • Author(s): Takata Ryo、Takahashi Atsushi、Fujita Masashi et al.
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 4422-4422
  • DOI: 10.1038/s41467-019-12267-6
  • NAID: 120006731132
  • Peer Reviewed / Open Access
• [Journal Article] Biobank Establishment and Sample Management in the Tohoku Medical Megabank Project (2019)
  • Author(s): Minegishi Naoko、Nishijima Ichiko、Nobukuni Takahiro、Kudo Hisaaki、Ishida Noriko、Terakawa Takahiro、Kumada Kazuki、Yamashita Riu、Katsuoka Fumiki、Ogishima Soichi、Suzuki Kichiya、Sasaki Makoto、Satoh Mamoru、Tohoku Medical Megabank Project Study Group、Yamamoto Masayuki
  • Journal Title: The Tohoku Journal of Experimental Medicine Volume: 248 Issue: 1 Pages: 45-55
  • DOI: 10.1620/tjem.248.45
  • NAID: 130007652672
  • ISSN: 0040-8727, 1349-3329
  • Peer Reviewed / Open Access
• [Journal Article] Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing (2018)
  • Author(s): Mimori T, Fumiki K, Sakae S、Naoki N, 、Akira O, Minegishi N, Kinoshita K, Nagasaki M, Yamamoto M
  • Journal Title: Pharmacogenomics Volume: 63 Issue: 2 Pages: 213-230
  • DOI: 10.1038/s41397-017-0010-4
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare (2018)
  • Author(s): Yasuda Jun、Kinoshita Kengo、et al.,
  • Journal Title: The Journal of Biochemistry Volume: 165 Issue: 2 Pages: 139-158
  • DOI: 10.1093/jb/mvy096
  • NAID: 40021809939
  • Peer Reviewed / Open Access