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。

IF 1 4区 生物学 Q4 GENETICS & HEREDITY
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,&nbsp;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":"88 6","pages":"414-422"},"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,&nbsp;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\":\"88 6\",\"pages\":\"414-422\"},\"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}
引用次数: 0

摘要

导言:α-肌动蛋白-3(ACTN3)基因p.Arg577Ter变异的表型结果表明,速度和耐力运动的表现特征之间存在权衡。虽然c.1729C等位基因(又称R等位基因)与力量/力量特征有一致的关联,但对于无效等位基因(c.1729T等位基因,又称X等位基因)是否会影响耐力表现仍存在争议。本研究旨在利用之前发表的巴西人群数据,检验 ACTN3 p.Arg577Ter 变体与长距离耐力运动员身份的关联:方法:采用病例对照方法分析了 203 名长跑运动员和 1724 名对照者的基因型数据:结果:长跑运动员的 X 等位基因频率明显高于对照组(51.5% 对 41.4%;P = 0.000095)。R/X和X/X基因型在运动员组中的比例过高。R/X基因型而非R/R基因型的个体成为长跑运动员的几率增加了1.6(p = 0.012),而X/X基因型而非R/R基因型的个体成为长跑运动员的几率增加了2.2(p = 0.00017):结论:X 等位基因(主要是 X/X 基因型)与巴西人的长跑运动员身份有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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%; = 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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信