Nazarov I B, Woods D R, Montgomery H E, Shneider O V, Kazakov V I, Tomilin N V, Rogozkin V A
Institute of Cytology of the Russian Academy of Sciences, Tikchoretski Ave. 4, Saint Petersburg, 194064, Russia.
Eur J Hum Genet. 2001 Oct;9(10):797-801. doi: 10.1038/sj.ejhg.5200711.
The deletion (D) allele of the human ACE gene is associated with higher ACE activity than the insertion (I) allele. There is controversy as to whether the ACE genotype may be associated with elite athletic status; recent studies have identified no significant associations amongst those drawn from mixed sporting disciplines. However, such lack of association may reflect the mixed nature of such cohorts, given that an excess frequency of the I allele has been reported amongst elite endurance athletes, and an excess of the D allele amongst those engaged in more power-orientated sports. We examined this hypothesis by determining ACE I/D allele frequency amongst 217 Russian athletes (swimmers, skiers, triathletes and track-and-field participants) prospectively stratified by performance ('outstanding' or 'average'), and the duration of their event (SDA (<1 min), MDA (1 to 20 min), and LDA (>20 min): short, middle and long distance athletes respectively). ACE genotype and allele frequencies were compared to 449 controls. ACE genotype frequency amongst the whole cohort, or the outstanding athletes alone, was no different to that amongst sedentary controls. However, there was an excess of the D allele (frequency 0.72, P=0.001) amongst the outstanding SDA group, and an excess of the I allele (frequency 0.63, P=0.032) amongst the outstanding MDA group. These findings were replicated in the outstanding swimmers, with track and field SDA similarly demonstrating an excess of the D allele (P=0.01). There was no association found between the outstanding LDA and ACE genotype (P=0.27). These data not only confirm an excess of the D allele in elite SDA, and I allele in elite MDA, but also offer an explanation as to why any such association may be hard to detect amongst a heterogeneous cohort of mixed athletic ability and discipline.
人类ACE基因的缺失(D)等位基因比插入(I)等位基因与更高的ACE活性相关。关于ACE基因型是否可能与精英运动员身份相关存在争议;最近的研究在来自混合体育项目的人群中未发现显著关联。然而,这种缺乏关联可能反映了此类队列的混合性质,因为据报道,精英耐力运动员中I等位基因频率过高,而从事更多力量型运动的人群中D等位基因过多。我们通过确定217名俄罗斯运动员(游泳运动员、滑雪运动员、铁人三项运动员和田径运动员)中ACE I/D等位基因频率来检验这一假设,这些运动员根据表现(“优秀”或“普通”)以及比赛时长(SDA(<1分钟)、MDA(1至20分钟)和LDA(>20分钟):分别为短距离、中距离和长距离运动员)进行了前瞻性分层。将ACE基因型和等位基因频率与449名对照进行比较。整个队列或仅优秀运动员的ACE基因型频率与久坐不动的对照人群没有差异。然而,优秀的SDA组中D等位基因过多(频率0.72,P = 0.001),优秀的MDA组中I等位基因过多(频率0.63,P = 0.032)。这些发现在优秀游泳运动员中得到了重复,田径SDA组同样显示D等位基因过多(P = 0.01)。优秀的LDA组与ACE基因型之间未发现关联(P = 0.27)。这些数据不仅证实了精英SDA组中D等位基因过多,精英MDA组中I等位基因过多,还解释了为什么在混合运动能力和项目的异质队列中可能难以检测到任何此类关联。