MRC/UCT Research Unit for Exercise Science and Sports Medicine, University of Cape Town, Newlands 7725, South Africa.
Br J Sports Med. 2009 May;43(5):357-65. doi: 10.1136/bjsm.2008.048793. Epub 2008 Apr 28.
A COL5A1 gene variant was shown to be associated with chronic Achilles tendinopathy in a South African population. The aim of this case-control genetic association study was to investigate the BstUI and DpnII restriction fragment length polymorphisms (RFLP) in a second population from Australia and to identify a predisposing haplotype for Achilles tendinopathy in both populations.
85 Australian and 93 South African patients with tendinopathy, as well as 210 Australian and 132 white South African control subjects were genotyped for the BstUI (rs12722) and DpnII (rs13946) RFLP, as well as markers rs10858286, rs3196378, rs11103544, rs4504708 and rs3128575.
The BstUI RFLP (p<0.001) and marker rs3196378 (p = 0.016) were associated with chronic Achilles tendinopathy in Australian subjects. Individuals within both populations with a CC genotype for the BstUI RFLP had a significantly decreased risk of developing tendinopathy versus any other genotypes (Australian odds ratio 0.42, 95% CI 0.20 to 0.86, p = 0.017). The TC inferred haplotype (rs12722, rs3196378) was found to be overrepresented (global p = 0.008) in the South African tendinopathy group compared with all other haplotypes.
The BstUI RFLP is associated with chronic Achilles tendinopathy in a second population and a region within the COL5A1 3' untranslated region may predispose individuals to an increased risk of developing chronic Achilles tendinopathy.
COL5A1 基因变异与南非人群的慢性跟腱病有关。本病例对照遗传关联研究的目的是调查澳大利亚第二个人群中的 BstUI 和 DpnII 限制性片段长度多态性（RFLP），并确定两个人群中跟腱病的易感单倍型。
对 85 名澳大利亚和 93 名南非跟腱病患者以及 210 名澳大利亚和 132 名南非白人对照组进行 BstUI(rs12722)和 DpnII(rs13946)RFLP 以及标记物 rs10858286、rs3196378、rs11103544、rs4504708 和 rs3128575 的基因分型。
BstUI RFLP(p<0.001)和标记物 rs3196378(p=0.016)与澳大利亚人群的慢性跟腱病有关。BstUI RFLP 为 CC 基因型的个体发生跟腱病的风险明显低于其他任何基因型的个体(澳大利亚比值比 0.42，95%CI 0.20 至 0.86，p=0.017)。与所有其他单倍型相比，南非跟腱病组中 TC 推断的单倍型(rs12722，rs3196378)明显过表达(全局 p=0.008)。
BstUI RFLP 与第二个人群的慢性跟腱病有关，COL5A1 3'非翻译区的一个区域可能使个体易患慢性跟腱病的风险增加。
