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与骨骼肌系统损伤相关的基因变异与在积极运动的白种人群体中的基因间的相互作用。

Interactions between Gene Variants within the and Genes and Musculoskeletal Injuries in Physically Active Caucasian.

机构信息

Department of Physical Education, Academy of Physical Education and Sport in Gdansk, ul. Kazimierza Górskiego 1, 80-336 Gdansk, Poland.

Department of Rehabilitation Musculoskelatal System, Pomeranian University of Medical Science, ul. Unii Lubelskiej 1, 71-252 Szczecin, Poland.

出版信息

Genes (Basel). 2021 Jul 9;12(7):1056. doi: 10.3390/genes12071056.

DOI:10.3390/genes12071056
PMID:34356072
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8307722/
Abstract

The and variants have been associated with the risk of musculoskeletal injuries. Therefore, the main aim of the study was to investigate the association between three polymorphisms within two genes (rs1800012 in , as well as rs12722 and rs13946 in ) and the reported, yet rarely described in the literature, injuries of the joint and muscle area in a physically active Caucasian population. Polish students ( = 114) were recruited and divided into the following two groups: students with ( = 53) and without ( = 61) injures. Genotyping was carried out using real-time PCR. The results obtained revealed a statistically significant association between rs1800012 and injury under an overdominant model. Specifically, when adjusted for age and sex, the GT heterozygotes had a 2.2 times higher chance of being injured compared with both homozygotes (TT and GG, 95% CI 0.59-5.07, = 0.040). However, no significant interaction between the variants, either individually or in haplotype combination, and susceptibility to injury were found. In addition, the gene-gene interaction analysis did not reveal important relationships with the musculoskeletal injury status. It was demonstrated that rs1800012 may be positively associated with physical activity-related injuries in a Caucasian population. Harboring the specific GT genotype may be linked to a higher risk of being injured.

摘要

和 变体与肌肉骨骼损伤的风险有关。因此,本研究的主要目的是调查两个基因( 中的 rs1800012 以及 中的 rs12722 和 rs13946)中的三个多态性与文献中报道但很少描述的关节和肌肉区域损伤之间的关联,研究对象为活跃的白种人群体。招募了波兰学生( = 114),并将他们分为以下两组:有损伤的学生( = 53)和无损伤的学生( = 61)。使用实时 PCR 进行基因分型。结果表明,在超显性模型下,rs1800012 与损伤之间存在统计学显著关联。具体而言,在调整年龄和性别后,GT 杂合子受伤的几率比 TT 和 GG 纯合子高 2.2 倍(95%CI 0.59-5.07, = 0.040)。然而,未发现 变体单独或在单倍型组合中的相互作用与受伤易感性之间存在显著相关性。此外,基因-基因相互作用分析并未显示与肌肉骨骼损伤状态的重要关系。结果表明,rs1800012 可能与白种人群体中与体力活动相关的损伤呈正相关。携带特定的 GT 基因型可能与更高的受伤风险有关。

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Association between polymorphism rs12722 in COL5A1 and musculoskeletal soft tissue injuries: a systematic review and meta-analysis.COL5A1基因rs12722多态性与肌肉骨骼软组织损伤之间的关联:一项系统评价和荟萃分析。
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