decorin基因变异是否与前交叉韧带断裂易感性相关?

IF 4.2 2区 医学 Q1 SPORT SCIENCES
Biology of Sport Pub Date : 2025-07-16 eCollection Date: 2025-10-01 DOI:10.5114/biolsport.2025.152112
Kinga Łosińska, Agata Rzeszutko-Bełzowska, Krzysztof Ficek, Alison V September
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引用次数: 0

摘要

本研究旨在探讨两个DCN基因单核苷酸多态性rs13312816 (T > A)和rss516115 (A > G)是否与前交叉韧带(ACL)损伤的风险和严重程度相关。共有296名身体活跃、无血缘关系的白人男性参与了这项研究:160名非接触性前交叉韧带损伤,136名健康对照。采用TaqMan法进行基因分型。进行了逻辑回归和基于单倍型的分析,调整了年龄和体重。rs13312816的次要等位基因A在ACL病例中的出现频率明显高于对照组(8.54% vs. 2.94%, P = 0.0047; OR = 3.08, 95% CI: 1.33-7.98)。与T/T携带者相比,A/T基因型个体的损伤几率更高(Padj = 0.008; OR = 3.3, 95% CI: 1.44-7.53)。在病例对照比较中没有发现rs516115的关联。单倍型分析表明,具有[A;G]单倍型增加前交叉韧带损伤的几率(Padj = 0.0095; OR = 3.29, 95% CI: 1.44 ~ 7.52)。在损伤组中,rs13312816 A/T基因型与多重损伤(ACLF)相关(Padj = 0.010; OR = 3.19, 95% CI: 1.36-7.48)。对于rs516115, A/G (Padj < 0.0001; OR = 6.03, 95% CI: 2.83-12.83)和G/G基因型(Padj < 0.0001; OR = 9.71, 95% CI: 2.57-36.77)都与ACLF相关。单倍型分析证实[A;G] (Padj = 0.0099; OR = 3.34, 95% CI: 1.33-8.35), [T;G]单倍型(Padj < 0.0001; OR = 4.79, 95% CI: 2.35-9.79)。这些研究结果表明,DCN遗传变异,特别是rs13312816和特定的单倍型,有助于ACL损伤的易感性和复发。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Are decorin gene variants associated with anterior cruciate ligament rupture susceptibility?

Are decorin gene variants associated with anterior cruciate ligament rupture susceptibility?

This study aimed to investigate whether two DCN gene single nucleotide polymorphisms (SNPs), rs13312816 (T > A) and rs516115 (A > G), are associated with the risk and severity of anterior cruciate ligament (ACL) injury. A total of 296 physically active, unrelated Caucasian males participated: 160 with noncontact ACL injuries and 136 healthy controls. Genotyping was conducted using TaqMan assays. Logistic regression and haplotype-based analyses were performed, adjusting for age and body mass. The minor A allele of rs13312816 was significantly more frequent in ACL cases than in controls (8.54% vs. 2.94%, P = 0.0047; OR = 3.08, 95% CI: 1.33-7.98). Individuals with the A/T genotype had higher odds of injury compared to T/T carriers (Padj = 0.008; OR = 3.3, 95% CI: 1.44-7.53). No associations were found for rs516115 in the case- control comparison. Haplotype analysis showed that individuals with the [A;G] haplotype had increased odds of ACL injury (Padj = 0.0095; OR = 3.29, 95% CI: 1.44-7.52). Within the injured group, rs13312816 A/T genotype was associated with multiple injuries (ACLF) (Padj = 0.010; OR = 3.19, 95% CI: 1.36-7.48). For rs516115, both A/G (Padjj < 0.0001; OR = 6.03, 95% CI: 2.83-12.83) and G/G genotypes (Padj < 0.0001; OR = 9.71, 95% CI: 2.57-36.77) were linked to ACLF. Haplotype analysis confirmed increased odds for multiple injuries in carriers of [A;G] (Padj = 0.0099; OR = 3.34, 95% CI: 1.33-8.35) and [T;G] haplotypes (Padj < 0.0001; OR = 4.79, 95% CI: 2.35-9.79). These findings suggest that DCN genetic variants, especially rs13312816 and specific haplotypes, contribute to ACL injury susceptibility and recurrence.

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来源期刊
Biology of Sport
Biology of Sport 生物-运动科学
CiteScore
8.20
自引率
12.50%
发文量
113
审稿时长
>12 weeks
期刊介绍: Biology of Sport is the official journal of the Institute of Sport in Warsaw, Poland, published since 1984. Biology of Sport is an international scientific peer-reviewed journal, published quarterly in both paper and electronic format. The journal publishes articles concerning basic and applied sciences in sport: sports and exercise physiology, sports immunology and medicine, sports genetics, training and testing, pharmacology, as well as in other biological aspects related to sport. Priority is given to inter-disciplinary papers.
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