Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study
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 a...
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| Veröffentlicht in: | Journal of human genetics 2013-12, Vol.58 (12), p.780-787 |
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| creator | Mikami, Eri Fuku, Noriyuki Kong, Qing-Peng Takahashi, Hideyuki Ohiwa, Nao Murakami, Haruka Miyachi, Motohiko Higuchi, Mitsuru Tanaka, Masashi Pitsiladis, Yannis P Kawahara, Takashi |
| description | 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 |
| doi_str_mv | 10.1038/jhg.2013.102 |
| format | Article |
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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 haplogroup- and subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/jhg.2013.102</identifier><identifier>PMID: 24108366</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Asian Continental Ancestry Group - genetics ; Athletes ; Athletic Performance - physiology ; Case-Control Studies ; Deoxyribonucleic acid ; DNA ; DNA, Mitochondrial - genetics ; Female ; Gene frequency ; Genetic Variation - genetics ; Haplotypes - genetics ; Humans ; Male ; Mitochondria - genetics ; Mitochondrial DNA ; NADH ; NADH dehydrogenase ; Polymorphism, Genetic ; rRNA 12S</subject><ispartof>Journal of human genetics, 2013-12, Vol.58 (12), p.780-787</ispartof><rights>The Japan Society of Human Genetics 2013.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c507t-f48bda81425507a7bb267de286891dd5621fd56c9afe2f5cb1bf7db242a4150b3</citedby><cites>FETCH-LOGICAL-c507t-f48bda81425507a7bb267de286891dd5621fd56c9afe2f5cb1bf7db242a4150b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24108366$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mikami, Eri</creatorcontrib><creatorcontrib>Fuku, Noriyuki</creatorcontrib><creatorcontrib>Kong, Qing-Peng</creatorcontrib><creatorcontrib>Takahashi, Hideyuki</creatorcontrib><creatorcontrib>Ohiwa, Nao</creatorcontrib><creatorcontrib>Murakami, Haruka</creatorcontrib><creatorcontrib>Miyachi, Motohiko</creatorcontrib><creatorcontrib>Higuchi, Mitsuru</creatorcontrib><creatorcontrib>Tanaka, Masashi</creatorcontrib><creatorcontrib>Pitsiladis, Yannis P</creatorcontrib><creatorcontrib>Kawahara, Takashi</creatorcontrib><title>Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>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 haplogroup- and subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.</description><subject>Asian Continental Ancestry Group - genetics</subject><subject>Athletes</subject><subject>Athletic Performance - physiology</subject><subject>Case-Control Studies</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Female</subject><subject>Gene frequency</subject><subject>Genetic Variation - genetics</subject><subject>Haplotypes - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mitochondria - genetics</subject><subject>Mitochondrial DNA</subject><subject>NADH</subject><subject>NADH dehydrogenase</subject><subject>Polymorphism, Genetic</subject><subject>rRNA 12S</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkT1PHDEURS0UFAiko0aW0qRgwH72fNGhDUlAKDQg0Y089pvsrGbGi58Haf99vEAoqGjsd62ja8uHsSMpTqVQ1dlq-fcUhFQpwQ7bl1rlGSh4-PQ86yyXhdxjX4hWQggFJXxme6ClqFRR7LN54cd1wCVO1D8hN5MZNtQT9x23fhz9lI4cDyYgH_vo7dJPLvRm4D_-XPAnk8YpEu8njkMfkV-btZmQUlFcDhiRzrnh1hBm1k8x-IFTnN3mkO12ZiD8-rofsPufl3eL39nN7a-rxcVNZnNRxqzTVetMJTXkKZuybaEoHUJVVLV0Li9Admm1tekQuty2su1K14IGo2UuWnXAvr_0roN_nJFiM_ZkcRjSI_1MjdQ1FFAoLT6CirKs6xwS-u0duvJzSD9HTbo6uRCl0ok6eaFs8EQBu2Yd-tGETSNFszXXJHPN1lxK29Lj19K5HdG9wf9VqX8hUpQk</recordid><startdate>20131201</startdate><enddate>20131201</enddate><creator>Mikami, Eri</creator><creator>Fuku, Noriyuki</creator><creator>Kong, Qing-Peng</creator><creator>Takahashi, Hideyuki</creator><creator>Ohiwa, Nao</creator><creator>Murakami, Haruka</creator><creator>Miyachi, Motohiko</creator><creator>Higuchi, Mitsuru</creator><creator>Tanaka, Masashi</creator><creator>Pitsiladis, Yannis P</creator><creator>Kawahara, Takashi</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>7TM</scope></search><sort><creationdate>20131201</creationdate><title>Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study</title><author>Mikami, Eri ; Fuku, Noriyuki ; Kong, Qing-Peng ; Takahashi, Hideyuki ; Ohiwa, Nao ; Murakami, Haruka ; Miyachi, Motohiko ; Higuchi, Mitsuru ; Tanaka, Masashi ; Pitsiladis, Yannis P ; Kawahara, Takashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c507t-f48bda81425507a7bb267de286891dd5621fd56c9afe2f5cb1bf7db242a4150b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Asian Continental Ancestry Group - genetics</topic><topic>Athletes</topic><topic>Athletic Performance - physiology</topic><topic>Case-Control Studies</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Female</topic><topic>Gene frequency</topic><topic>Genetic Variation - genetics</topic><topic>Haplotypes - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mitochondria - genetics</topic><topic>Mitochondrial DNA</topic><topic>NADH</topic><topic>NADH dehydrogenase</topic><topic>Polymorphism, Genetic</topic><topic>rRNA 12S</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mikami, Eri</creatorcontrib><creatorcontrib>Fuku, Noriyuki</creatorcontrib><creatorcontrib>Kong, Qing-Peng</creatorcontrib><creatorcontrib>Takahashi, Hideyuki</creatorcontrib><creatorcontrib>Ohiwa, Nao</creatorcontrib><creatorcontrib>Murakami, Haruka</creatorcontrib><creatorcontrib>Miyachi, Motohiko</creatorcontrib><creatorcontrib>Higuchi, Mitsuru</creatorcontrib><creatorcontrib>Tanaka, Masashi</creatorcontrib><creatorcontrib>Pitsiladis, Yannis P</creatorcontrib><creatorcontrib>Kawahara, Takashi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Nucleic Acids Abstracts</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mikami, Eri</au><au>Fuku, Noriyuki</au><au>Kong, Qing-Peng</au><au>Takahashi, Hideyuki</au><au>Ohiwa, Nao</au><au>Murakami, Haruka</au><au>Miyachi, Motohiko</au><au>Higuchi, Mitsuru</au><au>Tanaka, Masashi</au><au>Pitsiladis, Yannis P</au><au>Kawahara, Takashi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2013-12-01</date><risdate>2013</risdate><volume>58</volume><issue>12</issue><spage>780</spage><epage>787</epage><pages>780-787</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>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 haplogroup- and subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>24108366</pmid><doi>10.1038/jhg.2013.102</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Asian Continental Ancestry Group - genetics Athletes Athletic Performance - physiology Case-Control Studies Deoxyribonucleic acid DNA DNA, Mitochondrial - genetics Female Gene frequency Genetic Variation - genetics Haplotypes - genetics Humans Male Mitochondria - genetics Mitochondrial DNA NADH NADH dehydrogenase Polymorphism, Genetic rRNA 12S |
| title | Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study |
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