摘要
目的:探讨核呼吸因子基因多态性位点与优秀耐力运动员运动能力的关联性及其作用机制。方法:应用Case-Control实验设计,分析核呼吸因子1和2编码基因的21个单核苷酸多态性位点在235名优秀耐力运动员和504名对照组中的分布特征。采用双荧光素酶报告基因的方法分析阳性关联多态性位点的生物学功能。结果:1)rs1984823的CC基因型在女运动员组的分布频率(7.9%)显著高于女对照组(1.3%);rs7794909携带T等位基因的基因型(CT+TT)在运动员组的分布频率(17.9%)显著高于对照组(11.1%)。2)rs1984823多态性对相对荧光素酶活性无明显影响。rs7794909多态性下调相对荧光素酶活性,但两个纯合子之间无显著性差异。结论:rs1984823和rs7794909多态性位点是预测优秀耐力运动员的分子标记,但不是通过调控基因转录参与运动能力的形成。
Purpose To explore the association of polymorphisms in nuclear respiratory factor genes with the molecular makers of elite endurance athletes. Methods We compared genotypic/allelic frequencies in 21 single nucleotide polymorphisms （SNPs）of the two genes （NRF1 and NRF2）between 235 elite endurance runners and 504 healthy non-athletes from the same ethnic background （Han nationality） ,and used the dual-luciferase reporter assay to analyze the functional siguificanee of the associated SNPs. Results The CC genotype frequency of rs19848238 is higher in female athletes（7.9%） than female non-athletes （1.3%）. The CT＋TY genotype frequency of rs7795909 is higher in athletes （17.9%）than non-athletes （11.1%）. The rs7794909 polymorphism down-regulates the relative luciferase activity,and there is no significant difference between the two homozygous. Conclusion Our findings suggest that 2 polymorphisms （rs1984823 and rs7794909）are associated with the endurance performance of Han population in northern China.
出处
《中国运动医学杂志》
CAS
CSCD
北大核心
2013年第8期671-676,701,共7页
Chinese Journal of Sports Medicine
基金
国家自然科学基金项目(31100853)
国家体育总局体育科学研究所基本业务费(11-03
12-15)
国家科技部科技支撑项目(2003BA904B04)
关键词
优秀耐力运动员
单核苷酸多态性
关联研究
基因表达
elite endurance athlete,single nucleotide polymorphism,association study,geneexpression
