Cięszczyk P, Willard K, Gronek P, Zmijewski P, Trybek G, Gronek J, Weber-Rajek M, Stastny P, Petr M, Lulińska-Kuklik E, Ficek K, Kemeryte-Riaubiene E, Maculewicz E, September A V
Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
MRC/UCT Research Unit for Exercise Science & Sports Medicine, University of Cape Town, Cape Town, South Africa.
Biol Sport. 2017 Jun;34(2):97-103. doi: 10.5114/biolsport.2017.64582. Epub 2017 Jan 1.
Proteoglycans are considered integral structural components of tendon and ligament and have been implicated in the resistance of compressive forces, collagen fibrillogenesis, matrix remodelling and cell signalling. Several sequence variants within genes encoding proteoglycans were recently implicated in modulating anterior cruciate ligament ruptures (ACLR). This study aimed to test the previously implicated variants in proteoglycan and vascular epithelial growth factor encoding genes with risk of ACLR in a population from Poland. A case control genetic association study was conducted using DNA samples from 143 healthy participants without a history of ACL injuries (99 male and 44 females) (CON group) and 229 surgically diagnosed ACLR participants (158 males and 71 females). All samples were genotyped for the rs1516797, rs1042103, , rs516115 and rs699947 variants. Main findings included the (i) rs1516797 G/T genotype which was underrepresented in the CON group (CON: 36%, n=52, ACLR: 49%, n=112, p=0.017, OR=1.68, 95% CI 1.09 to 2.57) when all participants were investigated and (ii) the rs1042103 A allele was significantly under-represented in the male CON group compared to the male ACLR group (CON: 39%, n=78, ACLR: 49%, n=156, p=0.029, OR=1.5, 95% CI 1.05 to 2.15). Furthermore, BGN inferred haplotypes were highlighted with altered ACLR susceptibility. Although the study implicated the and genes (combination of genotype, allele and haplotype) in modulating ACLR susceptibility, several differences were noted with previous published findings.
蛋白聚糖被认为是肌腱和韧带不可或缺的结构成分，并且与抗压能力、胶原纤维形成、基质重塑及细胞信号传导有关。最近，编码蛋白聚糖的基因中的几个序列变异与前交叉韧带断裂（ACLR）的调节有关。本研究旨在测试波兰人群中，蛋白聚糖和血管内皮生长因子编码基因中先前涉及的变异与ACLR风险的关系。使用来自143名无ACL损伤史的健康参与者（99名男性和44名女性）（CON组）和229名经手术诊断为ACLR的参与者（158名男性和71名女性）的DNA样本进行了病例对照基因关联研究。对所有样本进行了rs1516797、rs1042103、rs516115和rs699947变异的基因分型。主要发现包括：（i）当对所有参与者进行调查时，rs1516797 G/T基因型在CON组中的比例较低（CON：36%，n = 52，ACLR：49%，n = 112，p = 0.017，OR = 1.68，95% CI 1.09至2.57）；（ii）与男性ACLR组相比，rs1042103 A等位基因在男性CON组中的比例显著较低（CON：39%，n = 78，ACLR：49%，n = 156，p = 0.029，OR = 1.5，95% CI 1.05至2.15）。此外，BGN推断的单倍型与ACLR易感性改变有关。尽管该研究表明某些基因（基因型、等位基因和单倍型的组合）与ACLR易感性调节有关，但与先前发表的研究结果存在一些差异。
