钙调神经磷酸酶基因多态性与优秀耐力运动员运动能力关联性及功能的初步研究

Function and Association Study of Calcineurin Gene Polymorphisms with Elite Endurance Athletes Performance

目的:探讨钙调神经磷酸酶编码基因多态性与优秀耐力运动员运动能力的关联性。方法:应用case-control实验设计,分析55个单核苷酸多态性在123名优秀耐力运动员和125名对照组的分布特征。采用双荧光素酶报告基因的方法初步分析关联多态性的功能意义。结果:1)基因型或等位基因在优秀运动员与对照组分布频率有显著差异(P<0.05)的位点有11个,但经过多重比较的修正后达到显著差异(P<0.01)的仅有2个。2)PPP3 CArs3804358 C等位基因的分布频率在优秀运动员组(17%)显著高于对照组(8%)(P=0.003),而PPP3 CB rs3763679 T等位基因在优秀运动员组(23%)显著低于对照组(37%)。3)携带rs3804358 C或rs3763679 C等位基因的报告基因相对荧光素酶活性显著高于相应的携带rs3804358 G或rs3763679 T等位基因的荧光素酶活性。结论:rs3804358和rs3763679多态性与优秀耐力运动员运动能力关联,并且这2个多态性影响基因转录。

Objective ： To explore the association of polymorphisms in calcineurin genes with elite endurance athlete performance. Methods： This paper compared genotypic/allelic frequencies in 55 single nucleotide polymorphisms （SNPs） of the five genes （PPP3 CA, PPP3 CB, PPP3CC, PPP3R1 and PPP3R2） encoding the calcineurin protein subunits between 123 elite runners （cases, n= 61 women） and 125 healthy non-athletes （controls, n= 56 women） from the same ethnic background （Hans Chinese）, and used the dual-luciferase reporter assay to analyse the functional significance of the associated SNPs. Results.. The C allele of the PPP3CA rs3804358 polymorphism was overrepresented in athletes （17%） compared with controls （8%） （P=0. 003）, whereas the T allele of the PPP3CB rs3763679 polymorphism was underrepresented in athletes （23 % ） compared with controls （37 %） （P = 0.001 ）. The luciferase reporter constructs containing C allele of the rs3804358 and rs3763679 polymorphisms produced significantly greater luciferase activity than that of the G or T alleles respectively. Conclusion： The findings suggest that rs3804358 and rs3763679 polymorphisms have functional significance and show evidence of association with elite endurance performance.