João Paulo Limongi França Guilherme, Edilamar Menezes Oliveira
{"title":"巴西长跑运动员中 ACTN3 基因 p.Arg577Ter 突变无效等位基因的患病率增加:一项回顾性研究。","authors":"João Paulo Limongi França Guilherme, Edilamar Menezes Oliveira","doi":"10.1111/ahg.12571","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Introduction</h3>\n \n <p>The phenotypic consequences of the p.Arg577Ter variant in the α-actinin-3 (<i>ACTN3</i>) gene are suggestive of a trade-off between performance traits for speed and endurance sports. Although there is a consistent association of the c.1729C allele (aka R allele) with strength/power traits, there is still a debate on whether the null allele (c.1729T allele; aka X allele) influences endurance performance. The present study aimed to test the association of the <i>ACTN3</i> p.Arg577Ter variant with long-distance endurance athlete status, using previously published data with the Brazilian population.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>Genotypic data from 203 long-distance athletes and 1724 controls were analysed in a case–control approach.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>The frequency of the X allele was significantly higher in long-distance athletes than in the control group (51.5% vs. 41.4%; <i>p </i>= 0.000095). The R/X and X/X genotypes were overrepresented in the athlete group. Individuals with the R/X genotype instead of the R/R genotype had a 1.6 increase in the odds of being a long-distance athlete (<i>p</i> = 0.012), whereas individuals with the X/X genotype instead of the R/R genotype had a 2.2 increase in the odds of being a long-distance athlete (<i>p</i> = 0.00017).</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>The X allele, mainly the X/X genotype, was associated with long-distance athlete status in Brazilians.</p>\n </section>\n </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long-distance athletes: A retrospective study\",\"authors\":\"João Paulo Limongi França Guilherme, Edilamar Menezes Oliveira\",\"doi\":\"10.1111/ahg.12571\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Introduction</h3>\\n \\n <p>The phenotypic consequences of the p.Arg577Ter variant in the α-actinin-3 (<i>ACTN3</i>) gene are suggestive of a trade-off between performance traits for speed and endurance sports. Although there is a consistent association of the c.1729C allele (aka R allele) with strength/power traits, there is still a debate on whether the null allele (c.1729T allele; aka X allele) influences endurance performance. The present study aimed to test the association of the <i>ACTN3</i> p.Arg577Ter variant with long-distance endurance athlete status, using previously published data with the Brazilian population.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>Genotypic data from 203 long-distance athletes and 1724 controls were analysed in a case–control approach.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>The frequency of the X allele was significantly higher in long-distance athletes than in the control group (51.5% vs. 41.4%; <i>p </i>= 0.000095). The R/X and X/X genotypes were overrepresented in the athlete group. Individuals with the R/X genotype instead of the R/R genotype had a 1.6 increase in the odds of being a long-distance athlete (<i>p</i> = 0.012), whereas individuals with the X/X genotype instead of the R/R genotype had a 2.2 increase in the odds of being a long-distance athlete (<i>p</i> = 0.00017).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>The X allele, mainly the X/X genotype, was associated with long-distance athlete status in Brazilians.</p>\\n </section>\\n </div>\",\"PeriodicalId\":8085,\"journal\":{\"name\":\"Annals of Human Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Human Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/ahg.12571\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/ahg.12571","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long-distance athletes: A retrospective study
Introduction
The phenotypic consequences of the p.Arg577Ter variant in the α-actinin-3 (ACTN3) gene are suggestive of a trade-off between performance traits for speed and endurance sports. Although there is a consistent association of the c.1729C allele (aka R allele) with strength/power traits, there is still a debate on whether the null allele (c.1729T allele; aka X allele) influences endurance performance. The present study aimed to test the association of the ACTN3 p.Arg577Ter variant with long-distance endurance athlete status, using previously published data with the Brazilian population.
Methods
Genotypic data from 203 long-distance athletes and 1724 controls were analysed in a case–control approach.
Results
The frequency of the X allele was significantly higher in long-distance athletes than in the control group (51.5% vs. 41.4%; p = 0.000095). The R/X and X/X genotypes were overrepresented in the athlete group. Individuals with the R/X genotype instead of the R/R genotype had a 1.6 increase in the odds of being a long-distance athlete (p = 0.012), whereas individuals with the X/X genotype instead of the R/R genotype had a 2.2 increase in the odds of being a long-distance athlete (p = 0.00017).
Conclusion
The X allele, mainly the X/X genotype, was associated with long-distance athlete status in Brazilians.
期刊介绍:
Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible.
Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.