Exsome sequencing of world-class sprint athletes

• Project/Area Number: 24650414
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Single-year Grants
• Research Field: Sports science
• Research Institution: Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology
• Principal Investigator: FUKU Noriyuki 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 研究員 (40392526)
• Co-Investigator(Kenkyū-buntansha): TANAKA Masashi 地方独立行政法人東京都家健康長寿医療センタ-, 東京都健康長寿医療センター研究所, 部長 (60155166)
• Co-Investigator(Renkei-kenkyūsha): IHARA Kunio 名古屋大学, 遺伝子実験施設, 助教 (90223297)
• Project Period (FY): 2012-04-01 – 2014-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000); Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 短距離選手 / 全エクソン塩基配列 / 遺伝子多型 / 短距離走 / 多型 / トップアスリート / エクソン / 塩基配列決定

Research Abstract

The purpose of the present study to identify genetic variants associated with anaerobic performance, namely, elite Jamaican (African ancestry) and Japanese sprint athlete status, from analysis of entire exon sequence. Total DNA was isolated from oral mucosa (Jamaican) and saliva (Japanese) with a QIAamp DNA Blood Mini Kit and Oragene DNA Collection Kit, respectively. Entire exon sequencing was analyzed by use of SOLiD4. A lots of sequence errors were found in Jamaican sprinters because of using DNA samples from oral mucosa, but not in Japanese sprinters. Therefore, we excluded in Jamaican athletes from further analysis. In the Japanese cohort, frequencies of the 11 variants were higher Five variants of them cause amino acid replacement. on the other hands, frequencies of the 15 variants were lower in elite Japanese sprinters than controls. Further extensive studies are necessary to confirm or identify genetic variants associated with elite Japanese sprint athlete status.

Research Products

• [Journal Article] ACTN3 R577X Genotype is Associated with Sprinting in Elite Japanese Athletes (2014)
  • Author(s): Mikami E, Fuku N, Murakami H, Tsuchie H, Takahashi H, Ohiwa N, Tanaka H, Pitsiladis YP, Higuchi M, Miyachi M, Kawahara T, Tanaka M
  • Journal Title: Int J Sports Med Volume: 35 Pages: 172-177
• [Journal Article] Lucia The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts (2014)
  • Author(s): Pinós T, Fuku N, Cámara Y, Arai Y, Abe Y, Rodríguez-Romo G, Garatachea N, Santos-Lozano A, Miro-Casas E, Ruiz-Meana M, Otaegui I, Murakami H, Miyachi M, Garcia-Dorado D, Hinohara K, Andreu AL, Kimura A, Hirose N
  • Journal Title: Age (Dordr) Volume: 36 Pages: 933-943
• [Journal Article] The Q223R polymorphism in the leptin receptor associates with objectively measured light physical activity in free-living Japanese (2014)
  • Author(s): Murakami H, Iemitsu M, Fuku N, Sanada K, Gando Y, Kawakami R, Miyachi M
  • Journal Title: Physiol Behav Volume: 129 Pages: 199-204
• [Journal Article] Lucia ApoE gene and exceptional longevity : Insights from three independent cohorts (2014)
  • Author(s): Garatachea N, Emanuele E, Calero M, Fuku N, Arai Y, Abe Y, Murakami H, Miyachi M, Yvert T, Verde Z, Zea MA, Venturini L, Santiago C, Santos-Lozano A, Rodríguez-Romo G, Ricevuti G, Hirose N, Rábano A
  • Journal Title: Exp Gerontol Volume: 53 Pages: 16-23
• [Journal Article] Genomics of elite sporting performance: what little we know and necessary advances (2014)
  • Author(s): Garatachea N, Emanuele E, Calero M, Fuku N, Arai Y, Abe Y, et al.
  • Journal Title: Adv Genet Volume: 53C Pages: 123-149
  • DOI: 10.1016/j.exger.2014.02.004
  • Peer Reviewed
• [Journal Article] Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases (2013)
  • Author(s): Zhou H, Mori S, Kou I, Fuku N, Naka Mieno M, Honma N, Arai T, Sawabe M, Tanaka M, Ikegawa S, Ito H
  • Journal Title: J Hum Genet Volume: 58 Pages: 109-112
  • NAID: 10031156433
• [Journal Article] Association of mitochondrial DNA polymorphisms and/or haplogroups with elite Japanese athlete status (2013)
  • Author(s): Fuku N, Mikami E, Tanaka M
  • Journal Title: J Phys Fitness Sports Med Volume: 2 Pages: 17-27
  • NAID: 10031159013
• [Journal Article] Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes (2013)
  • Author(s): Tanisawa K, Mikami E, Fuku N, Honda Y, Honda S, Ohsawa I, Ito M, Endo S, Ihara K, Ohno K, Kishimoto Y, Ishigami A, Maruyama N, Sawabe M, Iseki H, Okazaki Y, Hasegawa-Ishii S, Takei S, Shimada A, Hosokawa M, Mori M, Higuchi K, Takeda T, Higuchi M, Tanaka M
  • Journal Title: BMC Genomics Volume: 14 Pages: 248-248
• [Journal Article] Ploutarhos S, Montgomery HE, Bailey ME, Pitsiladis YP. Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers (2013)
  • Author(s): Wang G, Mikami E, Chiu LL, DE Perini A, Deason M, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Hsieh LL, Hsieh SS, Caporossi D, Pigozzi F, Hilley A, Lee R, Galloway SD, Gulbin J, Rogozkin VA, Ahmetov II, Yang N, North KN
  • Journal Title: Med Sci Sports Exerc Volume: 45 Pages: 892-900
• [Journal Article] Genomics of elite sporting performance : what little we know and necessary advances (2013)
  • Author(s): Pitsiladis Y, Wang G, Wolfarth B, Scott R, Fuku N, Mikami E, He Z, Fiuza-Luces C, Eynon N, Lucia A
  • Journal Title: Br J Sports Med Volume: 47 Pages: 550-555
• [Journal Article] Polymorphisms in the control region of mitochondrial DNA associated with elite Japanese athlete status (2013)
  • Author(s): Mikami E, Fuku N, Takahashi H, Ohiwa N, Pitsiladis YP, Higuchi M, Kawahara T, Tanaka M
  • Journal Title: Scand J Med Sci Sports Volume: 23 Pages: 593-599
• [Journal Article] Pitsiladis Y. Genomics of Elite Sporting Performance : What little We Know and Necessary Advances (2013)
  • Author(s): Wang G, Padmanabhan S, Wolfarth B, Fuku N, Lucia A, Ahmetov II, Cieszczyk P, Collins M, Eynon N, Klissouras V, Williams A
  • Journal Title: Adv Genet Volume: 84 Pages: 123-149
• [Journal Article] Pitsiladis YP, Kawahara T. Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes : a case-control study (2013)
  • Author(s): Mikami E, Fuku N, Kong QP, Takahashi H, Ohiwa N, Murakami H, Miyachi M, Higuchi M, Tanaka M
  • Journal Title: J Hum Genet Volume: 58 Pages: 780-787
• [Journal Article] Genetic testing in Sports and exercise (2013)
  • Author(s): Pitsiladis YP, Wang G, Padmanabhan S, Wolfarth B, Fuku N, Lucia A, Ahmetov II, Cieszczyk P, Collins M, Eynon N, Williams A
  • Journal Title: The Sport and Exercise Scientist Volume: 38 Pages: 16-17
• [Journal Article] Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study (2013)
  • Author(s): Mikami E, Fuku N, Kong QP, Takahashi H, Ohiwa N, Murakami H, Miyachi M, Higuchi M, Tanaka M, Pitsiladis YP, Kawahara T.
  • Journal Title: J Hum Genet Volume: 58 Pages: 780-787
  • DOI: 10.1038/jhg.2013.102
  • NAID: 40019919266
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Genomics of elite sporting performance: what little we know and necessary advances (2013)
  • Author(s): Pitsiladis Y, Wang G, Wolfarth B, Scott R, Fuku N, Mikami E, He Z, Fiuza-Luces C, Eynon N, Lucia A
  • Journal Title: Br J Sports Med Volume: 47 Pages: 656-657
  • DOI: 10.1136/bjsports-2013-092400
  • Peer Reviewed
• [Journal Article] Association of mitochondrial DNA polymorphisms and/or haplogroups with elite Japanese athlete status (2013)
  • Author(s): Fuku N, Mikami E, Tanaka M
  • Journal Title: The Journal of Physical Fitness and Sports Medicine Volume: 2 Pages: 17-27
  • NAID: 10031159013
  • Peer Reviewed
• [Journal Article] Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases. (2013)
  • Author(s): Zhou H, Mori S, Kou I, Fuku N, Naka Mieno M, Honma N, Arai T, Sawabe M, Tanaka M, Ikegawa S, Ito H
  • Journal Title: Journal of Human Genetics Volume: 58 Pages: 109-112
  • DOI: 10.1038/jhg.2012.145
  • NAID: 10031156433
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] ミトコンドリアゲノムとヒトの寿命 (2012)
  • Author(s): 福典之, 田中雅嗣
  • Journal Title: メディカル・サイエンス・ダイジェスト Volume: 38 Pages: 7-10
• [Journal Article] Pitsiladis YP. Importance of mitochondrial haplotypes and maternal lineage in sprint performance among individuals of West African ancestry (2012)
  • Author(s): Deason M, Scott R, Irwin L, Macaulay V, Fuku N, Tanaka M, Irving R, Charlton V, Morrison E, Austin K
  • Journal Title: Scand J Med Sci Sports Volume: 22 Pages: 217-223
• [Journal Article] Association of 29C T Polymorphism in the Transforming Growth Factor-β1 Gene with Lean Body Mass in Community-Dwelling Japanese Population (2012)
  • Author(s): Fuku N, Mori S, Murakami H, Gando Y, Zhou H, Ito H, Tanaka M, Miyachi M
  • Journal Title: Geriatr Gerontol Int Volume: 12 Pages: 292-297
  • NAID: 10031147995
• [Journal Article] Mitochondrial macrohaplogroup associated with muscle power in healthy adults (2012)
  • Author(s): Fuku N, Murakami H, Iemitsu M, Sanada K, Tanaka M, Miyachi M
  • Journal Title: Int J Sports Med Volume: 33 Pages: 410-414
• [Journal Article] The mitochondrial T1095C mutation increases gentamicin-mediated apoptosis (2012)
  • Author(s): Muyderman H, Sims NR, Tanaka M, Fuku N, Raghupathi R, Thyagarajan D
  • Journal Title: Mitochondrion Volume: 12 Pages: 465-471
• [Journal Article] An alternative model for the early peopling of southern South America revealed by analyses of three mitochondrial DNA haplogroups (2012)
  • Author(s): de Saint Pierre M, Bravi CM, Motti JM, Fuku N, Tanaka M, Llop E, Bonatto SL, Moraga M
  • Journal Title: PLoS One Volume: 7
• [Journal Article] 遺伝的要因を考慮したコンディショニング⑧ロンドンオリンピックのメダリストと遺伝-メダリストのDNAは特別なのか?- (2012)
  • Author(s): 福典之, 家光素行
  • Journal Title: JATI Express Volume: 31 Pages: 16-17
• [Journal Article] Extended Screening for Major Mitochondrial DNA Point Mutations in Patients with Hereditary Hearing Loss (2012)
  • Author(s): Kato T, Nishigaki Y, Noguchi Y, Fuku N, Ito T, Mikami E, Kitamura K, Tanaka M.
  • Journal Title: J Hum Genet. Volume: 57 Pages: 772-5
  • DOI: 10.1038/jhg.2012.109
  • NAID: 10031145884
  • Peer Reviewed
• [Journal Article] An alternative model for the early peopling of southern South America revealed by analyses of three mitochondrial DNA haplogroups (2012)
  • Author(s): Michelle de de Pierre, Claudio M Bravi, Josefina M B Motti, Noriyuki Fuku, Masashi Tanaka, Elena Llop, Sandro L Bonatto, Mauricio Moraga
  • Journal Title: PLoS One Volume: 7
  • DOI: 10.1371/journal.pone.0043486
  • Peer Reviewed
• [Journal Article] Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population (2012)
  • Author(s): Kato T, Fuku N, Noguchi Y, Murakami H, Miyachi M, Kimura Y, Tanaka M and Kitamura K
  • Journal Title: Acta Otolaryngol Volume: 132 Pages: 1178-1182
  • DOI: 10.3109/00016489.2012.693624
  • Peer Reviewed
• [Journal Article] Importance of mitochondrial haplotypes and maternal lineage in sprint performance among individuals of West African ancestry (2012)
  • Author(s): Deason M, Scott R, Irwin L, Macaulay V, Fuku N, Tanaka M, Irving R, Charlton V, Morrison E, Austin K, Pitsiladis YP
  • Journal Title: Scand J Med Sci Sports Volume: 22 Pages: 217-223
  • DOI: 10.1111/j.1600-0838.2010.01289.x
  • Peer Reviewed
• [Presentation] 東アフリカ人の持久的運動能力を規定する遺伝要因ならびに環境要因 (2014)
  • Author(s): 福典之
  • Organizer: 第26回ランニング学会
  • Place of Presentation: 大阪
• [Presentation] 運動と循環と遺伝子 (2013)
  • Author(s): 福典之
  • Organizer: 運動と循環研究会
  • Place of Presentation: 滋賀
  • Year and Date: 2013-08-23
• [Presentation] Genome-wide association study of world class athlete status using elite Jamaican sprinters (2013)
  • Author(s): Wang G, Fuku N, Padmanabhan P, Mikami E, Tanaka M, Miyachi M, Murakami H, Morrison E, Pitsiladis Y
  • Organizer: The Malawi-Liverpool-Wellcome Trust Clinical Research Programme
  • Place of Presentation: Glasgow
  • Year and Date: 2013-04-21
• [Presentation] Effects of Dopamine D2 receptor gene polymorphism on physical activity level in humans (2013)
  • Author(s): Haruka Murakami, Motoyuki Iemitsu, Kiyoshi Sanada, Noriyuki Fuku, Ryoko Kawakami, Yuko Gando, Motohiko Miyachi
  • Organizer: American College of Sports Medicine 60th Annual Meeting and 4th World Congress on Exercise is Medicine
  • Place of Presentation: Indianapolis
• [Presentation] Association between CNTF receptor gene polymorphism and elite Japanese endurance athlete status (2013)
  • Author(s): Noriyuki Fuku, Eri Mikami, Haruka Murakami, Hideyuki Takahashi, Nao Ohiwa, Motohiko Miyachi, Yannis P Pitsiladis, Hiroaki Tanaka, Takashi Kawahara, Masashi Tanaka
  • Organizer: American College of Sports Medicine 60th Annual Meeting and 4th World Congress on Exercise is Medicine
  • Place of Presentation: Indianapolis
• [Presentation] A C-to-T polymorphism in 3'-untranslated region of CNTFR is associated with sprint/power performance (2013)
  • Author(s): Mikami E, Murakami H, Miyachi M, Higuchi M, Tanaka M, Kawahara T, Fuku N
  • Organizer: 18th Annual Congress of the European College of Sports Science
  • Place of Presentation: Barcelona
• [Presentation] 日本人陸上競技における種目特性とACTN3遺伝子R577X多型との関連 (2013)
  • Author(s): 菊池直樹, 宮本恵里, 村上晴香, 宮地元彦, 関石基, 中里浩一, 福典之
  • Organizer: 第68回日本体力医学会大会
  • Place of Presentation: 東京
• [Presentation] 毛様体神経栄養因子受容体遺伝子多型と持久的運動能力との関連 (2013)
  • Author(s): 福典之, 宮本恵里, 村上晴香, 宮地元彦, 川原貴
  • Organizer: 第68回日本体力医学会大会
  • Place of Presentation: 東京
• [Presentation] 身体活動増大を目的とした介入による身体活動量の変化とドーパミン遺伝子多型との関連 (2013)
  • Author(s): 村上晴香, 福典之, 川上涼子, 丸藤祐子, 塙智史, 宮地元彦
  • Organizer: 第68回日本体力医学会大会
  • Place of Presentation: 東京
• [Presentation] ACTN3 And ACE Genotypes In Elite Japanese Track And Field Athletes (2012)
  • Author(s): Eri Mikami, Noriyuki Fuku, Haruka Murakami, Hideyuki Takahashi, Nao Ohiwa, Yannis P. Pitsiladis, Hiroyasu Tsuchie, Mitsuru Higuchi, Motohiko Miyachi, Takashi Kawahara, Masashi Tanaka
  • Organizer: American College of Sports Medicine 59th Annual Meeting and 3rd World Congress on Exercise is Medicine
  • Place of Presentation: San Francisco
• [Presentation] Genome-Wide Association Study In Elite Japanese Track And Field Athletes (2012)
  • Author(s): Noriyuki Fuku, Eri Mikami, Takashi Kawahara, Hideyuki Takahashi, Nao Ohiwa, Hiroaki Tanaka, Yannis P. Pitsiladis, Masashi Tanaka
  • Organizer: American College of Sports Medicine 59th Annual Meeting and 3rd World Congress on Exercise is Medicine
  • Place of Presentation: San Francisco
• [Presentation] Montgomery HE, Pitsiladis Y : ACTN3 and ACE genotypes in elite Caucasian and Japanese swimmers (2012)
  • Author(s): Wnag G, Mikami E, de Perini A, Bailey ME, Caporpssi D, Pigozzi F, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Deson M, Hilley A, Lee R, Ahmetov II, Rogozkin VA, Galloway SD, Gulbin J, Yang N, North KN
  • Organizer: International Convention on Science, Education & Medicine in Sports 2012
  • Place of Presentation: Glasgow
• [Presentation] Polygenic profile of elite Japanese endurance runners (2012)
  • Author(s): Fuku N, Mikami E,Kawahara T, Tanaka H, Pitsiladis Y, Tanaka M
  • Organizer: International Convention on Science, Education & Medicine in Sports 2012
  • Place of Presentation: Glasgow
• [Presentation] Genetic ancestry and elite sprinting in groups of west African Descent (2012)
  • Author(s): Deson M, Wnag G, Fuku N, Mikami E, Tanisawa K, Scott R, Irwin L, Irving R, Charton V, Morrison E, Austin K, Tladi D, Headley S, Kolkhorst F, Tanaka M, Pitsiladis Y
  • Organizer: International Convention on Science, Education & Medicine in Sports 2012
  • Place of Presentation: Glasgow
• [Presentation] Ankle range of motion, foot arch characteristics and foot strength of habitually barefoot versus shod children in rural Kenya (2012)
  • Author(s): Okutoyi P, Aibast H, Adero W, Bargoria VK, Sigei T, Chemjor D, Fuku N, Konstable K, Ongaro N, Lieberman DE, Pitsliladis Y
  • Organizer: International Convention on Science, Education & Medicine in Sports 2012
  • Place of Presentation: Glasgow
• [Presentation] 瞬発系運動能力関連多型と陸上選手の競技特性・競技レベルとの関連性 (2012)
  • Author(s): 三上恵里, 福典之, 村上晴香. 高橋英幸, 大岩奈青, 土江寛裕, 樋口満, 樋口満, 川原貴, 田中雅嗣
  • Organizer: 第67回日本体力医学会大会
  • Place of Presentation: 岐阜
• [Presentation] 全ゲノム関連解析を用いた持久系ならびに瞬発系運動能力関連多型の探索 (2012)
  • Author(s): 福典之, 三上恵里, 大岩奈青, 高橋英幸, 村上晴香, 宮地元彦, 田中宏暁, 川原貴, 田中雅嗣
  • Organizer: 第67回日本体力医学会大会
  • Place of Presentation: 岐阜
• [Presentation] Anatomical adaptation of the lower limb in habitually barefoot versus shod children in rural Kenya (2012)
  • Author(s): Aibast H, Sigei T, Okutoyi P, Adero W, Chemjor D, Ongaro N, Fuku N, Konstable K, Lieberman DE, Pitsliladis Y
  • Organizer: XXXIII World Congress of Sports Medicine
  • Place of Presentation: Rome
• [Presentation] Genome-wide association study (GWAS) of elite sprinting of west African ancestry (2012)
  • Author(s): Wang G, Fuku N, Padmanabhan S, Mikami E, Tanaka M, Miyachi M, Murakami H, Morrison E, Pitsiladis Y
  • Organizer: XXXIII World Congress of Sports Medicine
  • Place of Presentation: Rome
• [Presentation] ACTN3 and ACE genotypes in elite Caucasian and Japanese swimmers (2012)
  • Author(s): Wnag G, Mikami E, de Perini A, Bailey ME, Caporpssi D, Pigozzi F, Fuku N, et al
  • Organizer: International Convention on Science, Education & Medicine in Sports 2012
  • Place of Presentation: Glasgow
• [Presentation] 瞬発系運動能力関連多型と陸上選手の競技特性・競技レベルとの関連性 (2012)
  • Author(s): 三上恵里、福典之、村上晴香、高橋英幸、大岩奈青、土江寛裕、樋口満、樋口満、川原貴、田中雅嗣
  • Organizer: 第66回日本体力医学会大会
  • Place of Presentation: 岐阜
• [Presentation] 全ゲノム関連解析を用いた持久系ならびに瞬発系運動能力関連多型の探索 (2012)
  • Author(s): 福典之、三上恵里、大岩奈青、高橋英幸、村上晴香、宮地元彦、田中宏暁、川原貴、田中雅嗣
  • Organizer: 第66回日本体力医学会大会
  • Place of Presentation: 岐阜
• [Book] 身体運動と呼吸・循環機能-ミトコンドリアDNAの個人差- (2012)
  • Author(s): 福典之
  • Publisher: 新興交易出版
• [Book] からだの発達と加齢の科学-遺伝子と運動パフォーマンス-ミトコンドリアDNA多型を中心に-- (2012)
  • Author(s): 福典之
  • Publisher: 大修館書店
• [Remarks] 東京都健康長寿医療センター研究所
  • URL: http://www.tmghig.jp/J_TMIG/J_index.html