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阿拉伯裔高水平运动员中特定损伤相关单核苷酸多态性的鉴定:一项初步研究。

Identification of specific injury-related SNPs in high-level athletes of Arab origin: A pilot study.

作者信息

Varamenti Evdokia, Pullinger Samuel A, Kollias Pavlos, Chini Vasiliki

机构信息

Sports Science Department, Aspire Academy, Doha, Qatar.

Sport Science Department, Inspire Institute of Sport, Vidyanagar, Dist. Bellary, 583275, India.

出版信息

Heliyon. 2024 Aug 30;10(17):e37285. doi: 10.1016/j.heliyon.2024.e37285. eCollection 2024 Sep 15.

DOI:10.1016/j.heliyon.2024.e37285
PMID:39296095
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11408798/
Abstract

Valuable insights for preventing sports injuries in athletes have been achieved through advancements in genetics. This study aimed to determine the allelic frequency of distinct single nucleotide polymorphisms (SNPs) in a group of high-level athletes of Arab origin and to explore whether any significant relationship exists between specific genotypes in the selected SNPs with the prevalence and severity of non-contact soft tissue injuries (NCSTIs) and stress fracture injuries (SFIs). A cohort of 30 Arab male adult athletes trained at the same Sports excellence Centre from various individual sports was recruited and genotyped for collagen type 5 alpha 1 () rs12722 and vitamin D receptor () rs10735810 variants. The injury data of participant athletes were collected over two training seasons and categorized according to the site and type (muscle, tendon, ligament, or stress fracture) and severity (mild, moderate, or severe). For the rs12722, the examined genotypes were not related to the NCSTIs occurrence, while for rs10735810, the CT and TT genotypes showed a prevalence for increased stress fracture injuries (RR = 7.72; 95 % CI: 1.66-35.87;  = 0.011 and RR = 9.93; 95 % CI: 2.83-34.89;  < 0.001, respectively), and increased odds for severe stress fractures (OR = 10.91, 95 % CI: 1.34-126.92,  = 0.033). This pilot study indicates a possible association between specific genotypes in the examined polymorphisms and the prevalence and severity of NCSTIs and SFIs. Given the constraints of the small sample size in the current study, additional research is required to gain a comprehensive understanding of this specific population.

摘要

通过遗传学的进展,在预防运动员运动损伤方面取得了宝贵的见解。本研究旨在确定一组阿拉伯裔高水平运动员中不同单核苷酸多态性(SNP)的等位基因频率,并探讨所选SNP中的特定基因型与非接触性软组织损伤(NCSTI)和应力性骨折损伤(SFI)的患病率及严重程度之间是否存在任何显著关系。招募了30名在同一体育卓越中心接受训练的来自不同单项运动的成年阿拉伯男性运动员,并对其进行了胶原蛋白5α1(COL5A1)rs12722和维生素D受体(VDR)rs10735810变体的基因分型。在两个训练季节收集了参与运动员的损伤数据,并根据损伤部位和类型(肌肉、肌腱、韧带或应力性骨折)以及严重程度(轻度、中度或重度)进行分类。对于rs12722,所检测的基因型与NCSTI的发生无关;而对于rs10735810,CT和TT基因型显示出应力性骨折损伤增加的患病率(RR = 7.72;95% CI:1.66 - 35.87;P = 0.011和RR = 9.93;95% CI:2.83 - 34.89;P < 0.001),以及严重应力性骨折的几率增加(OR = 10.91,95% CI:1.34 - 126.92,P = 0.033)。这项初步研究表明,所检测的多态性中的特定基因型与NCSTI和SFI的患病率及严重程度之间可能存在关联。鉴于本研究样本量较小的限制,需要进行更多研究以全面了解这一特定人群。

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本文引用的文献

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Interactions between Gene and Risk of the Anterior Cruciate Ligament Rupture.基因与前交叉韧带断裂风险之间的相互作用
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The association of novel polymorphisms with stress fracture injury in Elite Athletes: Further insights from the SFEA cohort.新型多态性与精英运动员应力性骨折损伤的相关性:来自 SFEA 队列的进一步研究。
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Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study.在一项英国病例对照研究中,COL5A1基因内的多态性和细胞外基质调节因子会改变跟腱病变的风险。
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Knee Surg Sports Traumatol Arthrosc. 2017 Oct;25(10):3311-3318. doi: 10.1007/s00167-016-4081-6. Epub 2016 Apr 16.
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Association Between VDR FokI Polymorphism and Intervertebral Disk Degeneration.维生素D受体FokI多态性与椎间盘退变之间的关联
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Interactions between collagen gene variants and risk of anterior cruciate ligament rupture.胶原蛋白基因变异与前交叉韧带断裂风险之间的相互作用。
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