波兰前十字韧带损伤滑雪运动员中 I 型胶原 α 1（col1a1）基因的+1245g/t 多态性。
The +1245g/t polymorphisms in the collagen type I alpha 1 (col1a1) gene in polish skiers with anterior cruciate ligament injury.
机构信息
University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland ; Galen Medical Center, Bieruń, Poland.
出版信息
Biol Sport. 2013 Mar;30(1):57-60. doi: 10.5604/20831862.1029823. Epub 2013 Jan 21.
OBJECTIVES
The aim of this study was to examine the association of +1245G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study.
METHODS
A total of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament reconstruction, were recruited for this study. The control group comprised 183 apparently healthy male skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for the +1245G/T polymorphisms using real-time PCR method.
RESULTS
Genotype distributions among cases and controls conformed to Hardy-Weinberg equilibrium (p = 0.2469 and p = 0.33, respectively). There was a significant difference in the genotype distribution between skiers and controls (p = 0.045, Fisher's exact test). There was no statistical difference in allele distribution: OR 1.43 (0.91-2.25), p = 0.101 (two-sided Fisher's exact test).
CONCLUSIONS
The risk of ACL ruptures was around 1.43 times lower in carriers of a minor allele G as compared to carriers of the allele T.
目的
本研究旨在通过病例对照研究，探讨 COL1A1 基因+1245G/T 多态性与波兰男性休闲滑雪者 ACL 断裂的相关性。
方法
共招募了 138 名男性 ACL 断裂的休闲滑雪者，所有患者均符合进行韧带重建的条件。对照组包括 183 名健康男性滑雪者，他们的 ACL 损伤暴露程度相当，且无任何自我报告的韧带或肌腱损伤史。采用实时 PCR 法从口腔上皮细胞中提取 DNA 样本，对+1245G/T 多态性进行基因分型。
结果
病例组和对照组的基因型分布均符合哈迪-温伯格平衡（p = 0.2469 和 p = 0.33）。滑雪者和对照组之间的基因型分布存在显著差异（p = 0.045，Fisher 确切检验）。等位基因分布无统计学差异：OR 1.43（0.91-2.25），p = 0.101（双侧 Fisher 确切检验）。
结论
与携带 T 等位基因的个体相比，携带 G 等位基因的个体 ACL 断裂的风险降低了约 1.43 倍。
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