PYGM基因SNP及单体型多态性与女子长跑运动员生理表型的关联性

Association Study of PYGM Gene and Haplotypes with Women Endurance Athletes Physiological Phenotypes

目的:探讨PYGM基因SNP及单体型多态性与女子长跑运动员生理表型的关联性。方法:研究对象为我国备战2012年伦敦奥运会国家集训队的79名女子长跑运动员。对PYGM基因的rs483962、rs490980和rs589691 3个位点进行基因型和单体型分析;并研究基因型和单体型与各生理表型指标的关联性。结果:1)rs490980位点不同基因型与运动员VO2AT/W显著相关(P<0.05),CC型显著性低于TT型和TC型;rs589691位点不同基因型与运动员WHR显著相关,CC型显著性低于TC型和TT型;2)由rs490980-rs589691位点组成的单体型与WHR显著性相关,TT单体型携带者WHR显著性高于非TT单体型携带者。结论:1)PYGM基因rs490980位点可以作为与有氧运动能力表型有关联性的基因标记;2)PYGM基因rs589691位点和rs490980-rs589691位点组成的单体型可以作为与身体成分有关联性的基因标记。

Objective. To explore the association of polymorphisms in PYGM gene with the physiological phenotypes of female long-distance athletes. Methods： We examined the genotypes and haplotypes in SNPs （rs483962,rs490980 and rs589691） of PYGM gene,and used one-way analysis of variance to find the association between the polymorphisms and physiological phenotypes in 79 female long-distance athletes who were preparing for London Olympic Games. Results.. The individuals with rs490980-CC genotype had lower VO2 AT/W than TT and TC. The rs589691 was associated with WHR, those carried CC genotype had lower WHR. The rs490980-rs589691 haplotype was associated with WHR, the individuals with TT haplotype had higher WHR than others. Conclusion.. rs490980 may serve as molecular marker associated with aerobic endurance capability phenotypes, rs589691 and rs490980-rs589691 haplotype were associated with body composition phenotypes.Abstract：Objective： To explore the association of polymorphisms in PYGM gene with the physiological phenotypes of female long-distance athletes. Methods： We examined the genotypes and haplotypes in SNPs （rs483962,rs490980 and rs589691） of PYGM gene,and used one-way analysis of variance to find the association between the polymorphisms and physiological phenotypes in 79 female long-distance athletes who were preparing for London Olympic Games. Results： The individuals with rs490980-CC genotype had lower VO2 AT/W than TT and TC. The rs589691 was associated with WHR, those carried CC genotype had lower WHR. The rs490980-rs589691 haplotype was associated with WHR, the individuals with TT haplotype had higher WHR than others. Conclusion： rs490980 may serve as molecular marker associated with aerobic endurance capability phenotypes, rs589691 and rs490980-rs589691 haplotype were associated with body composition phenotypes.