Rahim Masouda, El Khoury Louis Y, Raleigh Stuart M, Ribbans William J, Posthumus Michael, Collins Malcolm, September Alison V
1 Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town , Cape Town, South Africa .
2 School of Biological Sciences, University of Essex , Colchester, United Kingdom .
OMICS. 2016 Sep;20(9):520-7. doi: 10.1089/omi.2016.0116.
Sport and Exercise Medicine is one of the important subspecialties of 21st century healthcare contributing to improving the physical function, health, and vitality of populations while reducing the prevalence of lifestyle-related diseases. Moreover, sport and exercise are associated with injuries such as Achilles tendinopathy, which is a common tendon injury. The angiogenesis-associated signaling pathway plays a key role in extracellular matrix remodeling, with increased levels of angiogenic cytokines reported after cyclic stretching of tendon fibroblasts. We investigated the variants in angiogenesis genes in relation to the risk of Achilles tendinopathy in two population samples drawn independently from South Africa (SA) and the United Kingdom (UK). The study sample comprised 120 SA and 130 UK healthy controls, and 108 SA and 87 UK participants with Achilles tendinopathy. All participants were genotyped for five functional polymorphisms in the vascular endothelial growth factor, A isoform (VEGFA) (rs699947, rs1570360, rs2010963) and kinase insert-domain receptor (KDR) genes (rs1870377, rs2071559). The VEGFA A-G-G inferred haplotype was associated with an increased risk of Achilles tendinopathy in the SA group (15% in controls vs. 20% in cases, p = 0.048) and the combined SA+UK group (14% in controls vs. 20% in cases, p = 0.009). These new findings implicate the VEGFA gene with Achilles tendinopathy risk, while highlighting the potential biological significance of the angiogenesis signaling pathway in the etiology of Achilles tendinopathy. The evidence suggesting a genetic contribution to the susceptibility of sustaining a tendon injury is growing. We anticipate that high-throughput and multi-omics approaches, building on genomics, proteomics, and metabolomics, may soon uncover the pathophysiology of many diseases in the field of Sports and Exercise Medicine, as a new frontier of global precision medicine.
运动与运动医学是21世纪医疗保健领域的重要亚专业之一，有助于改善人群的身体功能、健康状况和活力，同时降低与生活方式相关疾病的患病率。此外，运动与诸如跟腱病等损伤有关，跟腱病是一种常见的肌腱损伤。血管生成相关信号通路在细胞外基质重塑中起关键作用，据报道，肌腱成纤维细胞周期性拉伸后血管生成细胞因子水平会升高。我们在分别从南非（SA）和英国（UK）独立抽取的两个人群样本中，研究了血管生成基因变异与跟腱病风险的关系。研究样本包括120名南非和130名英国健康对照者，以及108名南非和87名英国跟腱病患者。所有参与者均针对血管内皮生长因子A异构体（VEGFA）（rs699947、rs1570360、rs2010963）和激酶插入结构域受体（KDR）基因（rs1870377、rs2071559）中的五个功能多态性进行基因分型。VEGFA的A-G-G推断单倍型与南非组（对照组为15%，病例组为20%，p = 0.048）以及南非+英国合并组（对照组为14%，病例组为20%，p = 0.009）的跟腱病风险增加相关。这些新发现表明VEGFA基因与跟腱病风险有关，同时突出了血管生成信号通路在跟腱病病因学中的潜在生物学意义。越来越多的证据表明基因对肌腱损伤易感性有影响。我们预计，基于基因组学、蛋白质组学和代谢组学的高通量和多组学方法，可能很快会揭示运动与运动医学领域许多疾病的病理生理学，这是全球精准医学的一个新前沿。
