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Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study

文献类型：期刊论文

作者Mikami E1,2,3; Fuku N[*]3; Kong QP4; Takahashi H5; Ohiwa N5; Murakami H6; Miyachi M6; Higuchi M7; Tanaka M3; Pitsiladis YP8
刊名JOURNAL OF HUMAN GENETICS
出版日期2013
卷号58期号:12页码:780-787
关键词elite athlete status haplogroup mitochondrial genome polymorphism physical performance
通讯作者nfuku@tmig.or.jp
合作状况其它
英文摘要The purpose of the present study was to identify mitochondrial DNA (mtDNA) polymorphisms and rare variants that associate with elite Japanese athletic status. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (that is, 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON). The entire mtDNA sequences (16 569 bp) were analyzed by direct sequencing. Nucleotide variants were detected at 1488 sites in the 857 entire mtDNA sequences. A total of 311 variants were polymorphisms (minor allele frequency >= 1% in CON), and the frequencies of these polymorphisms were compared among the three groups. The EMA displayed excess of seven polymorphisms, including subhaplogroup D4e2- and D4g-specific polymorphisms, compared with CON (P < 0.05), whereas SPA displayed excess of three polymorphisms and dearth of nine polymorphisms, including haplogroup G-and subhaplogroup G2a-specific polymorphisms, compared with CON (P < 0.05). The frequencies of 10 polymorphisms, including haplogroup G-and subhaplogroup G2a-specific polymorphisms, were different between EMA and SPA (P < 0.05): although none of these polymorphisms differed significantly between groups after correcting for multiple comparison (false discovery rate q-value >= 0.05). The number of rare variants in the 12S ribosomal RNA and NADH dehydrogenase subunit I genes were also higher in SPA than in CON (P < 0.05). Analysis of the entire mtDNA of elite Japanese athletes revealed several haplogroupand subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.
收录类别SCI
资助信息This work was supported in part by a Grant-in-Aid for Young Scientists (A-21680050 to NF); by a Grant-in-Aid for Scientific Research (A-22240072 to MT); and a Grant-in-Aid for the Global COE (Sport Sciences for the Promotion of Active Life to Waseda University) from the Ministry of Education, Culture, Sports, Science and Technology; and by a research project in Japan Institute of Sports Sciences (to TK). EM was the recipient of Grant- in-Aid for JSPS Fellows from the Japan Society for the Promotion of Science.
语种英语
WOS记录号WOS:000328957600004
公开日期2014-01-24
源URL[http://159.226.149.42:8088/handle/152453/7787]  
专题昆明动物研究所_分子人类学
昆明动物研究所_遗传资源与进化国家重点实验室
作者单位1.Graduate School of Sport Sciences, Waseda University, Saitama, Japan
2.Japan Society for the Promotion of Science, Tokyo, Japan
3.Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan
4.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China
5.Department of Sports Sciences, Japan Institute of Sports Sciences, Tokyo, Japan
6.Department of Health Promotion and Exercise, National Institute of Health and Nutrition, Tokyo, Japan
7.Faculty of Sport Sciences, Waseda University, Saitama, Japan
8.College of Medicine, Veterinary and Life Sciences, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK
9.Department of Sports Medicine, Japan Institute of Sports Sciences, Tokyo, Japan
推荐引用方式
GB/T 7714		 Mikami E,Fuku N[*],Kong QP,et al. Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study[J]. JOURNAL OF HUMAN GENETICS,2013,58(12):780-787.
APA Mikami E.,Fuku N[*].,Kong QP.,Takahashi H.,Ohiwa N.,...&Kawahara T.(2013).Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study.JOURNAL OF HUMAN GENETICS,58(12),780-787.
MLA Mikami E,et al."Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study".JOURNAL OF HUMAN GENETICS 58.12(2013):780-787.

入库方式： OAI收割

来源：昆明动物研究所

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