Human Biology, University of Cape Town, South Africa.
Int J Sports Med. 2011 Nov;32(11):896-901. doi: 10.1055/s-0031-1277181. Epub 2011 Oct 19.
Mutations in the type VI collagen gene ( COL6A1) cause myopathy and muscle weakness. In addition, COL6A1 knockout mice were shown to have impaired running performance and reduced muscle strength. The COL6A1 rs35796750 polymorphism (IVS32-29 T/C) has been associated with complex phenotypes. The aim of this study was therefore to determine if this polymorphism is associated with performance during the 226 km Ironman triathlon. Participants (n=661) were recruited during 4 South African Ironman triathlons. Finishing times for the 3.8 km swim, 180 km bike, 42.2 km run, and overall race were provided by the race organisers. All participants were genotyped for the COL6A1 rs35796750 polymorphism. Participants with the COL6A1 TT genotype were significantly faster during the bike (p=0.014) and overall race (p=0.030). When participants were grouped into fast, middle and slow bike finishing time tertiles, there was a significant linear trend for the TT genotype (Fast: TT=35.7%; Middle: TT=29.0%; Slow: TT=23.8%; p=0.008). No significant genotype frequency differences were observed for the swim or run of the triathlon. In conclusion, the COL6A1 gene is therefore a potential marker for endurance cycling performance. These effects may be mediated through changes to the composition of type VI collagen containing tissues, such as muscle and tendon.
COL6A1 基因突变会导致肌肉疾病和肌肉无力。此外，COL6A1 基因敲除小鼠的跑步表现受损，肌肉力量下降。COL6A1 rs35796750 多态性（IVS32-29 T/C）与复杂表型有关。因此，本研究旨在确定该多态性是否与 226 公里铁人三项赛的表现有关。在 4 次南非铁人三项赛中招募了参与者（n=661）。游泳 3.8 公里、自行车 180 公里、跑步 42.2 公里的完赛时间和总体比赛时间由比赛组织者提供。所有参与者均接受 COL6A1 rs35796750 多态性的基因分型。COL6A1 TT 基因型的参与者在自行车（p=0.014）和整体比赛（p=0.030）中明显更快。当参与者按自行车完赛时间的快慢分为三个三分位时，TT 基因型呈显著线性趋势（快：TT=35.7%；中：TT=29.0%；慢：TT=23.8%；p=0.008）。游泳或跑步的铁人三项赛中未观察到基因型频率的显著差异。总之，COL6A1 基因是耐力自行车表现的潜在标志物。这些影响可能是通过改变富含 VI 型胶原的组织（如肌肉和肌腱）的组成来介导的。
