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Approach for identification of novel causative genes in male infertility

Research Project

Project/Area Number 26462461
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Urology
Research InstitutionThe University of Tokushima

Principal Investigator

SATO Youichi  徳島大学, 大学院医歯薬学研究部(薬学系), 准教授 (10363160)

Co-Investigator(Kenkyū-buntansha) 山内 あい子  徳島大学, 大学院医歯薬学研究部(薬学系), 教授 (30122253)
井本 逸勢 (井本 逸勢(橘逸勢))  徳島大学, 大学院医歯薬学研究部(医学系), 教授 (30258610)
岩本 晃明  国際医療福祉大学, 大学病院, 教授 (60046117)
Co-Investigator(Renkei-kenkyūsha) TAJIMA Atsushi  金沢大学, 医薬保健研究域医学系, 教授 (10396864)
Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords男性不妊症 / 精子濃度 / 次世代シーケンサー / GWAS / アンドロロジー / 男性不妊
Outline of Final Research Achievements

To identify novel causative genes of male infertility, we searched for genes related to semen parameters using men from the general population and fertile men. And we tried to search for risk loci for azoospermia using azoospermic patients and their families. We identified a locus associated with sperm motility by genome-wide association studies. And we identified candidate genes responsible for the risk of azoospermia using whole-exome sequencing of families. Moreover, we identified several SNPs significantly associated with male infertility.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (22 results)

All 2017 2016 2015 2014 Other

All Journal Article (12 results) (of which Peer Reviewed: 12 results,  Open Access: 4 results,  Acknowledgement Compliant: 2 results) Presentation (9 results) (of which Int'l Joint Research: 4 results) Remarks (1 results)

  • [Journal Article] An independent validation study of three single nucleotide polymorphisms at the sex hormone-binding globulin locus for testosterone levels identified by genome-wide association studies.2017

    • Author(s)
      Sato Y, Tajima A, Katsurayama M, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Imoto I, Yamauchi A, Iwamoto T.
    • Journal Title

      Hum Reprod Open

      Volume: 2017 Issue: 1 Pages: 1-8

    • DOI

      10.1093/hropen/hox002

    • NAID

      120006380963

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Anomalous Separation of Small Y-Chromosomal DNA Fragments on Microchip Electrophoresis2016

    • Author(s)
      Mohammad Jabasini, Ashraf Ewis, Youichi Sato, Yutaka Nakahori, Yoshinobu Baba
    • Journal Title

      Scientia Pharmaceutica

      Volume: 84 Pages: 507-513

    • NAID

      120007037472

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men2016

    • Author(s)
      Y.Sato, A.Tajima, M.Katsurayama, S.Nozawa, M.Yoshiike, E.Koh, J.Kanaya, M.Namiki, K.Matsumiya, A.Tsujimura, K.Komatsu, N.Itoh, J.Eguchi, I.Imoto, A.Yamauchi, T.Iwamoto
    • Journal Title

      Journal of Human Genetics

      Volume: 61 Issue: 11 Pages: 911-915

    • DOI

      10.1038/jhg.2016.82

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Y chromosome haplogroup D2a1 is significantly associated with high levels of luteinizing hormone in Japanese men2015

    • Author(s)
      Youichi Sato, Toshikatsu Shinka, Shiari Nozawa, Miki Yoshiike, Eitetsue Koh, Jiro Kanaya, Mikio Namiki, Kiyomi Matsumiya, Akira Tsujimura, Kiyoshi Komatsu, Naoki Itoh, Jiro Eguchi, Aiko Yamauchi, Teruaki Iwamoto, Yutaka Nakahori
    • Journal Title

      Andrology

      Volume: in press Issue: 3 Pages: 520-525

    • DOI

      10.1111/andr.12026

    • Related Report
      2015 Research-status Report 2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Lack of replication of four candidate SNPs implicated in human male fertility traits: a large-scale population-based study2015

    • Author(s)
      Youichi Sato, Atsushi Tajima, Kouki Tsunematsu, Shiari Nozawa, Miki Yoshiike, Eitetsue Koh, Jiro Kanaya, Mikio Namiki, Kiyomi, Matsumiya, Akira Tsujimura, Kiyoshi Komatsu, Naoki Itoh, Jiro Eguchi, Issei Imoto, Aiko Yamauchi, Teruaki Iwamoto
    • Journal Title

      Human Reproduction

      Volume: in press Issue: 6 Pages: 1505-1509

    • DOI

      10.1093/humrep/dev081

    • NAID

      120005661919

    • Related Report
      2015 Research-status Report 2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] An association study of four candidate loci for human male fertility traits with male infertility2015

    • Author(s)
      Youichi Sato, Atsushi Tajima, Kouki Tsunematsu, Shiari Nozawa, Miki Yoshiike, Eitetsue Koh, Jiro Kanaya, Mikio Namiki, Kiyomi, Matsumiya, Akira Tsujimura, Kiyoshi Komatsu, Naoki Itoh, Jiro Eguchi, Issei Imoto, Aiko Yamauchi, Teruaki Iwamoto
    • Journal Title

      Human Reproduction

      Volume: in press Issue: 6 Pages: 1510-1514

    • DOI

      10.1093/humrep/dev088

    • NAID

      120005661918

    • Related Report
      2015 Research-status Report 2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men2014

    • Author(s)
      Sato Y, Iwamoto T, Shinka T, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Yamauchi A, Nakahori Y
    • Journal Title

      Biol Reprod

      Volume: 90(6)(Epub 2014 Apr 23) Issue: 6 Pages: 116-116

    • DOI

      10.1095/biolreprod.114.118810

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Overview of genetic variation in the Y chromosome of modern Japanese males2014

    • Author(s)
      Youichi Sato, Toshikatsu Shinka, Ashraf A. Ewis, Aiko Yamauchi, Teruaki Iwamoto, Yutaka Nakahori
    • Journal Title

      Anthropological Science

      Volume: 122 Issue: 3 Pages: 131-136

    • DOI

      10.1537/ase.140709

    • NAID

      130004694074

    • ISSN
      0918-7960, 1348-8570
    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] The role of dipeptidyl peptidase 4 (DPP4) in the preservation of renal function: DPP4 involvement in hemoglobin expression2014

    • Author(s)
      Youichi Sato, Takanobu Kamada, Aiko Yamauchi
    • Journal Title

      Journal of Endocrinology

      Volume: 223 Issue: 2 Pages: 133-142

    • DOI

      10.1530/joe-14-0016

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] A Meta-analysis of the Association of <i>PPAR</i>γ rs1801282 Polymorphism and NSAID Usage with the Risk of Developing Cancer2014

    • Author(s)
      Mai Nagao, Youichi Sato, Aiko Yamauchi
    • Journal Title

      Biological and Pharmaceutical Bulletin

      Volume: 37 Issue: 6 Pages: 1062-1067

    • DOI

      10.1248/bpb.b14-00160

    • NAID

      130004147354

    • ISSN
      0918-6158, 1347-5215
    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Development of a fluoride-responsive amide bond cleavage device that is potentially applicable to a traceable linker2014

    • Author(s)
      J. Yamamoto, N. Maeda, C. Komiya, T. Tanaka, M. Denda, K. Ebisuno, W. Nomura, H. Tamamura, Y. Sato, A. Yamauchi, A. Shigenaga, and A. Otaka
    • Journal Title

      Tetrahedron

      Volume: 70 Issue: 34 Pages: 5122-5127

    • DOI

      10.1016/j.tet.2014.05.110

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Development of a traceable linker containing a thiol-responsive amino acid for the enrichment and selective labelling of target proteins2014

    • Author(s)
      J. Yamamoto, M. Denda, N. Maeda, M. Kita, C. Komiya, T. Tanaka, W. Nomura, H. Tamamura, Y. Sato, A. Yamauchi, A. Shigenaga, and A. Otaka
    • Journal Title

      Org. Biomol. Chem.

      Volume: 12 Issue: 23 Pages: 3821-3826

    • DOI

      10.1039/c4ob00622d

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] AZFc部分欠失gr/gr欠失例の臨床像の検討2016

    • Author(s)
      内田 将央、佐藤 陽一、古城 公佑、岩本 晃明
    • Organizer
      第61回日本生殖医学会学術講演会
    • Place of Presentation
      パシフィコ横浜(神奈川県・横浜市)
    • Year and Date
      2016-11-03
    • Related Report
      2016 Annual Research Report
  • [Presentation] Association analyses between copy numbers of genes in the azoospermia factor c (AZFc) region on the Y chromosome and male infertility2016

    • Author(s)
      Imani Soushi, Youichi Sato, Shimozawa Tatsuya, Iwamoto Teruaki and Aiko Yamauchi
    • Organizer
      The 13th International Congress of Human genetics
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-04-06
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] A replication study of four candidate loci for sex hormone levels previously identified by genome-wide association studies2016

    • Author(s)
      Youichi Sato, Atsushi Tajima, Katsurayama Motoki, Issei Imoto, Aiko Yamauchi and Iwamoto Teruaki
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-04-05
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] A replication study of four candidate loci for sex hormone levels previously identified by genome-wide association studies2016

    • Author(s)
      Youichi Sato, Atsushi Tajima, Katsurayama Motoki, Issei Imoto, Aiko Yamauchi, Iwamoto Teruaki
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      国立京都国際会館(京都府・京都市)
    • Year and Date
      2016-04-03
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Association analyses between copy numbers of genes in the azoospermia factor c (AZFc) region on the Y chromosome and male infertility2016

    • Author(s)
      Imani Soushi, Youichi Sato, Shimozawa Tatsuya, Iwamoto Teruaki, Aiko Yamauchi
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      国立京都国際会館(京都府・京都市)
    • Year and Date
      2016-04-03
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Y染色体上azoospermia factor c (AZFc) 領域内に存在する遺伝子のコピー数と男性不妊症との関連解析2015

    • Author(s)
      今仁 聡志,佐藤 陽一,下澤 辰也,岩本 晃明,山内 あい子
    • Organizer
      第38回日本分子生物学年会・第88回日本生化学会大会 合同大会
    • Place of Presentation
      神戸ポートアイランド(兵庫県神戸市)
    • Year and Date
      2015-12-02
    • Related Report
      2015 Research-status Report
  • [Presentation] 性ホルモン関連遺伝子座3SNPsの日本人男性を対象としたreplication解析2015

    • Author(s)
      葛山 元貴,佐藤 陽一,田嶋 敦,井本 逸勢,岩本 晃明,山内 あい子
    • Organizer
      第54回日本薬学会・日本薬剤師会・日本病院薬剤師会中国四国支部学術大会
    • Place of Presentation
      高知市文化プラザかるぽーと(高知県高知市)
    • Year and Date
      2015-10-31
    • Related Report
      2015 Research-status Report
  • [Presentation] 男性生殖能力関連候補遺伝子座 4SNPsの日本人男性を対象とした精液パラメータ及び男性不妊症との関連解析2014

    • Author(s)
      佐藤 陽一、常松 晃希、田嶋 敦、井本 逸勢、山内 あい子、岩本 晃明
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2014-11-20
    • Related Report
      2014 Research-status Report
  • [Presentation] 日本人男性におけるY染色体上DAZ遺伝子の欠失パターンと精液パラメータとの関連解析2014

    • Author(s)
      下澤 辰也,佐藤 陽一,岩本 晃明,山内 あい子
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2014-11-20
    • Related Report
      2014 Research-status Report
  • [Remarks] 徳島大学大学院医歯薬学研究部医薬品情報学分野

    • URL

      http://www.tokushima-u.ac.jp/ph/faculty/labo/inf/

    • Related Report
      2016 Annual Research Report

URL: 

Published: 2014-04-04   Modified: 2018-03-22  

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