Rivera M A, Dionne F T, Simoneau J A, Pérusse L, Chagnon M, Chagnon Y, Gagnon J, Leon A S, Rao D C, Skinner J S, Wilmore J H, Bouchard C
Physical Activity Sciences Laboratory, Laval University, Ste-Foy, Québec, Canada.
Med Sci Sports Exerc. 1997 Oct;29(10):1311-7. doi: 10.1097/00005768-199710000-00006.
This study examined the association between a DNA polymorphism in the muscle-specific creatine kinase (CKMM) gene and VO2max in the sedentary state, as well as its response (deltaVO2max) to a standardized 20-wk endurance training program. The subjects were 160 biologically unrelated Caucasian parents (80 women, 80 men) and 80 biologically unrelated adult offspring of the HERITAGE Family Study. The CKMM polymorphism was detected by PCR and digestion with the NcoI restriction enzyme. VO2max was measured during maximal cycle ergometer tests. VO2max was 2119 +/- 45 mL x min(-1) (mean +/- SE) or 26 +/- 0.4 mL x kg(-1) x min(-1). Both sexes had a significant (P < 0.05) increase in the deltaVO2max (women = 283 +/- 20 mL x min[-1] and men = 363 +/- 25 mL x min[-1]). Allele and genotype frequencies were not significantly different (P > 0.05) between sexes. Age and sex adjusted VO2max was significantly (P = 0.007) associated with the CKMM genotype in the parents, whereas no association (P > 0.05) was observed in the offspring. DeltaVO2max values adjusted for age, sex, VO2max, and body mass were characterized by genotype differences in both parents (P = 0.0004) and offspring (P = 0.0025). A significantly (P < 0.05) lower deltaVO2max to endurance training was detected in both parents and offspring homozygotes for the rare allele. The genotype accounted for at least 9% of the variance in deltaVO2max. These results indicate that the NcoI polymorphism in the 3' untranslated region of the muscle-specific creatine kinase gene is associated with the deltaVO2max to endurance training.
本研究调查了肌肉特异性肌酸激酶（CKMM）基因中的一个DNA多态性与久坐状态下的最大摄氧量（VO2max）之间的关联，以及其对标准化的20周耐力训练计划的反应（VO2max变化量）。研究对象为160名无血缘关系的高加索族父母（80名女性，80名男性）以及HERITAGE家庭研究中的80名无血缘关系的成年后代。通过聚合酶链反应（PCR）和用NcoI限制性内切酶消化来检测CKMM基因多态性。在最大运动功率测试期间测量VO2max。VO2max为21.19±4.5 mL·min⁻¹（平均值±标准误）或26±0.4 mL·kg⁻¹·min⁻¹。男女的VO2max变化量均有显著增加（P<0.05）（女性为28.3±2.0 mL·min⁻¹，男性为36.3±2.5 mL·min⁻¹）。等位基因和基因型频率在性别之间无显著差异（P>0.05）。经年龄和性别调整后的VO2max在父母中与CKMM基因型显著相关（P = 0.007），而在后代中未观察到关联（P>0.05）。经年龄、性别、VO2max和体重调整后的VO2max变化量在父母（P = 0.0004）和后代（P = 0.0025）中均表现出基因型差异。在携带罕见等位基因的父母和后代纯合子中，检测到对耐力训练的VO2max变化量显著降低（P<0.05）。该基因型至少占VO2max变化量方差的9%。这些结果表明，肌肉特异性肌酸激酶基因3'非翻译区的NcoI多态性与耐力训练的VO2max变化量相关。
