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Rs558129:一种与游泳表现相关的新型多态性?

Rs558129: A Novel Polymorphism for Swimming Performance?

作者信息

Zmijewski Piotr, Trybek Grzegorz, Czarny Wojciech, Leońska-Duniec Agata

机构信息

Jozef Pilsudski University of Physical Education in Warsaw, 00-809 Warsaw, Poland.

Department of Oral Surgery, Pomeranian Medical University in Szczecin, 70-111 Szczecin, Poland.

出版信息

J Hum Kinet. 2021 Oct 31;80:199-205. doi: 10.2478/hukin-2021-0098. eCollection 2021 Oct.

DOI:10.2478/hukin-2021-0098
PMID:34868429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8607767/
Abstract

The enzyme polypeptide N-acetylgalactosaminyltransferase like 6, encoded by the GALANTL6 gene, plays a role in the gut microbiome regarding regulation of short-chain fatty acids and their anti-inflammatory and resynthesis functions. It was hypothesized that the T allele of the GALNTL6 rs558129 polymorphism could have a positive effect on anaerobic metabolism. Thus, this study was performed to investigate the association between GALNTL6 rs558129 polymorphism and athletic performance in swimmers. A total of 147 Polish short distance (SDS) and 49 long distance swimmers (LDS) of national or international competitive levels and 379 controls were genotyped using the real-time polymerase chain reaction (real-time PCR). We found that the carriers of the T allele (CT+TT) had a 1.56 times higher chance of being SDS (odds ratio (OR): 95%CI 1.06-2.29) than the CC homozygotes. The T allele was overrepresented in the SDS compared with controls (33.7% vs. 25.7%, p = 0.025, OR 1.40, 95% CI 1.04-1.87), but no statistically significant differences were found for LDS. This study provides evidence for an association between the GALNTL6 rs558129 polymorphism and short distance swimming athlete status. Although more replication studies are needed, the preliminary data suggest an opportunity to use the analysis of GALNTL6 polymorphism along with other variants of candidate genes and standard phenotypic assessment in power-oriented sports selection.

摘要

由GALANTL6基因编码的酶多肽N - 乙酰半乳糖胺基转移酶样6,在肠道微生物群中对短链脂肪酸的调节及其抗炎和再合成功能发挥作用。据推测,GALNTL6 rs558129多态性的T等位基因可能对无氧代谢有积极影响。因此,本研究旨在调查GALNTL6 rs558129多态性与游泳运动员运动表现之间的关联。使用实时聚合酶链反应(实时PCR)对147名波兰国家或国际竞技水平的短距离(SDS)游泳运动员、49名长距离(LDS)游泳运动员和379名对照进行基因分型。我们发现,T等位基因携带者(CT + TT)成为SDS的可能性比CC纯合子高1.56倍(优势比(OR):95%CI 1.06 - 2.29)。与对照组相比,SDS中T等位基因的比例过高(33.7%对25.7%,p = 0.025,OR 1.40,95%CI 1.04 - 1.87),但LDS组未发现统计学上的显著差异。本研究为GALNTL6 rs558129多态性与短距离游泳运动员状态之间的关联提供了证据。尽管需要更多的重复研究,但初步数据表明,在以力量为导向的体育选材中,有机会将GALNTL6多态性分析与候选基因的其他变体及标准表型评估结合使用。

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Biol Sport. 2022 Mar;39(2):355-366. doi: 10.5114/biolsport.2022.105333. Epub 2021 Apr 21.
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Genetic basis of elite combat sports athletes: a systematic review.优秀格斗运动员的遗传基础:一项系统综述。
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Association between the A/T Polymorphism and Elite Athlete Status in Caucasian Swimmers.白种游泳运动员 A/T 多态性与精英运动员身份的关联。
Genes (Basel). 2021 May 11;12(5):715. doi: 10.3390/genes12050715.
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