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脑源性神经营养因子基因多态性rs6265与四个独立人群中的精英运动员身份

Brain-derived neurotrophic factor gene polymorphism rs6265 and elite athlete status in four independent populations.

作者信息

Anikevičiūtė Gabija, Urnikytė Alina, Massidda Myosotis, Calò Carla Maria, Tocco Filippo, Takaragawa Mizuki, Miyamoto-Mikami Eri, Murakami Haruka, Miyachi Motohiko, Fuku Noriyuki, Humińska-Lisowska Kinga, Łosińska Kinga, Cięszczyk Pawel, Ginevičienė Valentina

机构信息

Translational health research Institute, Faculty of Medicine, Vilnius University, Lithuania.

Department of Medical Sciences and Public Health, University of Cagliari, Italy.

出版信息

Biol Sport. 2025 Jan 20;42(3):69-77. doi: 10.5114/biolsport.2025.146786. eCollection 2025 Jul.

DOI:10.5114/biolsport.2025.146786
PMID:40657007
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12244410/
Abstract

This research aimed to investigate the association of the BDNF rs6265 polymorphism with elite athletic status in four different populations: Japanese and European Caucasian cohorts from Italy, Poland, and Lithuania. A total of 1,644 professional athletes (868 Japanese, 177 Italian, 369 Polish, 230 Lithuanian) and 1,948 non-athlete controls (healthy, unrelated 821 Japanese, 102 Italian, 371 Polish, and 654 Lithuanian individuals) were genotyped. The athletes were stratified into endurance-oriented, sprint/power-oriented, and team sports groups. Statistical analysis was performed using R version 4.2.0. The results showed that the allele/genotype distribution of BDNF rs6265 was significantly different between the athlete and control groups and varied across all analysed populations. The minor A allele was significantly more common in the Japanese compared to Europeans, and the G allele/GG genotype was significantly more prevalent in Polish and Lithuanian individuals compared to Italians. European athletes were less likely to have the rare AA genotype than sedentary controls. The GG genotype was more prevalent among Italian athletes, particularly those in team sports, who were about twice as likely to have the GG genotype compared to controls. Lithuanian athletes were more likely to have the GA genotype compared to controls. This was especially true for Lithuanian sprint/power athletes, who had a twofold greater probability of having the GA genotype compared to controls. The BDNF rs6265 variant indicates genetic differences across the four populations (ancestry-relevant heterogeneity) and highlights its potential influence on elite athletic status for the Italian (GG genotype) and Lithuanian (GA genotype) populations.

摘要

本研究旨在调查脑源性神经营养因子(BDNF)rs6265多态性与来自四个不同人群(日本以及来自意大利、波兰和立陶宛的欧洲白种人队列)的精英运动员身份之间的关联。对总共1644名职业运动员(868名日本人、177名意大利人、369名波兰人、230名立陶宛人)和1948名非运动员对照(健康、无亲缘关系的821名日本人、102名意大利人、371名波兰人和654名立陶宛人)进行了基因分型。运动员被分为耐力型、短跑/力量型和团队运动组。使用R 4.2.0版本进行统计分析。结果表明,BDNF rs6265的等位基因/基因型分布在运动员组和对照组之间存在显著差异,并且在所有分析的人群中有所不同。与欧洲人相比,次要的A等位基因在日本人中更为常见,而G等位基因/GG基因型在波兰人和立陶宛人中比在意大利人中更为普遍。欧洲运动员拥有罕见的AA基因型的可能性低于久坐不动的对照组。GG基因型在意大利运动员中更为普遍,尤其是在团队运动的运动员中,他们拥有GG基因型的可能性是对照组的两倍左右。与对照组相比,立陶宛运动员更有可能拥有GA基因型。对于立陶宛短跑/力量型运动员来说尤其如此,他们拥有GA基因型的概率是对照组的两倍。BDNF rs6265变异表明这四个人群存在基因差异(与祖先相关的异质性),并突出了其对意大利人群(GG基因型)和立陶宛人群(GA基因型)精英运动员身份的潜在影响。

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