Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45 110, Greece.
J Appl Physiol (1985). 2010 Mar;108(3):567-74. doi: 10.1152/japplphysiol.00780.2009. Epub 2009 Dec 31.
Athletic endurance performance is probably partly under genetic control, but genetic association studies have yielded inconclusive results. The objective of the present study was to evaluate the association of polymorphisms in eight muscle- or metabolism-related genes with endurance performance in participants of the Olympus Marathon running race. We recruited 438 athletes who participated in the 2007 and 2008 annual running events of the Olympus Marathon: a 43.8-km race with an ascent from sea level to 2,690-m altitude and then a descent to 300 m. Phenotypes of interest were the competitive event time at the specific Olympus Marathon where the athlete was enrolled, the fastest reported timing ever achieved in an Olympus Marathon, and how many kilometers per week the athlete ran during the previous year. Eleven polymorphisms in alpha(3)-actinin (ACTN3), AMP deaminase-1 (AMPD1), bradykinin B(2) receptor (BDKRB2), beta(2)-adrenergic receptor (ADRB2), peroxisome proliferator-activated receptor (PPAR)-gamma coactivator-1 alpha (PPARGC1A), PPAR-alpha (PPARA), PPAR-delta (PPARD), and apoliprotein E (APOE) were evaluated. Hardy-Weinberg equilibrium testing on the overall cohort of male athletes showed a significant deviation for BDKRB2 rs1799722 (P = 0.018; P = 0.006 when limited to 316 habitual male runners) with an excess of the TT genotype. Across all athletes, no associations showed nominal statistical significance for any of the three phenotypes, and the same was true when analyses were limited to men (n = 417). When limited to 316 male athletes who identified running as their preferred sport, ADRB2 rs1042713 had nominally significant associations with faster times for the minor (A) allele for the fastest time ever (P = 0.01). The direction of effect was identical as previously postulated only for BDKRB2 rs1799722 and ADRB2 rs1042713, indicating consistency. BDKRB2 rs1799722 and ADRB2 rs1042713 have some support for being implicated in endurance performance among habitual runners and require further investigation.
运动员的耐力表现可能部分受遗传控制，但遗传关联研究的结果尚无定论。本研究的目的是评估 8 个肌肉或代谢相关基因中的多态性与 Olympus 马拉松参赛者耐力表现的相关性。我们招募了 438 名参加 2007 年和 2008 年 Olympus 马拉松年度比赛的运动员：一场 43.8 公里的比赛，从海平面上升到 2690 米的海拔，然后下降到 300 米。感兴趣的表型是运动员参加的特定 Olympus 马拉松比赛的竞技时间、运动员在 Olympus 马拉松比赛中创下的最快纪录，以及运动员在前一年每周跑多少公里。在 alpha(3)-肌动蛋白 (ACTN3)、AMP 脱氨酶-1 (AMPD1)、缓激肽 B(2)受体 (BDKRB2)、β(2)-肾上腺素能受体 (ADRB2)、过氧化物酶体增殖物激活受体 (PPAR)-γ共激活因子-1α (PPARGC1A)、PPAR-α (PPARA)、PPAR-δ (PPARD)和载脂蛋白 E (APOE) 中评估了 11 个多态性。对整个男性运动员队列进行 Hardy-Weinberg 平衡测试显示，BDKRB2 rs1799722 存在显著偏离（P = 0.018；当仅限于 316 名习惯性男性跑步者时，P = 0.006），TT 基因型过多。在所有运动员中，任何三个表型的关联均无统计学意义，当分析仅限于男性（n = 417）时也是如此。当仅限于将 316 名将跑步作为首选运动的男性运动员时，ADRB2 rs1042713 与 minor(A)等位基因的最快时间具有显著关联（P = 0.01）。这种效应的方向与之前仅针对 BDKRB2 rs1799722 和 ADRB2 rs1042713 提出的假设相同，表明一致性。BDKRB2 rs1799722 和 ADRB2 rs1042713 对习惯性跑步者的耐力表现有一定的支持作用，需要进一步研究。
