Kinga Łosińska, Agata Rzeszutko-Bełzowska, Krzysztof Ficek, Alison V September
{"title":"decorin基因变异是否与前交叉韧带断裂易感性相关?","authors":"Kinga Łosińska, Agata Rzeszutko-Bełzowska, Krzysztof Ficek, Alison V September","doi":"10.5114/biolsport.2025.152112","DOIUrl":null,"url":null,"abstract":"<p><p>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 (P<sub>adj</sub> = 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 (P<sub>adj</sub> = 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) (P<sub>adj</sub> = 0.010; OR = 3.19, 95% CI: 1.36-7.48). For rs516115, both A/G (P<sub>adj</sub>j < 0.0001; OR = 6.03, 95% CI: 2.83-12.83) and G/G genotypes (P<sub>adj</sub> < 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] (P<sub>adj</sub> = 0.0099; OR = 3.34, 95% CI: 1.33-8.35) and [T;G] haplotypes (P<sub>adj</sub> < 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.</p>","PeriodicalId":55365,"journal":{"name":"Biology of Sport","volume":"42 4","pages":"333-343"},"PeriodicalIF":4.2000,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490320/pdf/","citationCount":"0","resultStr":"{\"title\":\"Are decorin gene variants associated with anterior cruciate ligament rupture susceptibility?\",\"authors\":\"Kinga Łosińska, Agata Rzeszutko-Bełzowska, Krzysztof Ficek, Alison V September\",\"doi\":\"10.5114/biolsport.2025.152112\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 (P<sub>adj</sub> = 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 (P<sub>adj</sub> = 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) (P<sub>adj</sub> = 0.010; OR = 3.19, 95% CI: 1.36-7.48). For rs516115, both A/G (P<sub>adj</sub>j < 0.0001; OR = 6.03, 95% CI: 2.83-12.83) and G/G genotypes (P<sub>adj</sub> < 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] (P<sub>adj</sub> = 0.0099; OR = 3.34, 95% CI: 1.33-8.35) and [T;G] haplotypes (P<sub>adj</sub> < 0.0001; OR = 4.79, 95% CI: 2.35-9.79). 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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。
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.
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.