CAJ | 학술논문

目的：探讨过氧化物酶体增殖受体7辅激活因子1家族基因多态性位点与优秀耐力运动员运动能力的关联性及作用机制。方法：应用Case-Control实验设计，分析47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）过氧化物酶体增殖受体γ辅激活因子1β的4个多态性位点，rs17110586、rs32579、rs2161257、rs17600568，过氧化物酶体增殖受体γ辅激活因子相关共活化因子的2个多态性位点：rs7114388、rs4817960的基因型和等位基因在优秀运动员与对照组分布频率有显著性差异；过氧化物酶体增殖受体7辅激活因子1β的rs251466仅等位基因分布频率达到显著性。2）rs17600568和rs4917960不改变相对荧光素酶活性。rs2161257下调相对荧光素酶活性，但2个纯合子之间没有显著性差异。rs251466、rs17110586、rs32579和rs7114388上调相对荧光素酶活性，但rs32579，2个纯合子之间没有显著性差异；其余3个多态性位点在2个纯合子之间有显著性差异，在运动员频率高的基因型有显著高的相对荧光素酶活性。结论：rs17110586和rs17114388与优秀耐力运动员的运动能力状态关联，并且上调基因转录。
목적：탐토과양화물매체증식수체7보격활인자1가족기인다태성위점여우수내력운동원운동능력적관련성급작용궤제。방법：응용Case-Control실험설계，분석47개단핵감산다태성위점재235명우수내력운동원화504명대조조적분포특정。채용쌍형광소매보고기인적방법분석양성관련다태성위점적생물학공능。결과：1）과양화물매체증식수체γ보격활인자1β적4개다태성위점，rs17110586、rs32579、rs2161257、rs17600568，과양화물매체증식수체γ보격활인자상관공활화인자적2개다태성위점：rs7114388、rs4817960적기인형화등위기인재우수운동원여대조조분포빈솔유현저성차이；과양화물매체증식수체7보격활인자1β적rs251466부등위기인분포빈솔체도현저성。2）rs17600568화rs4917960불개변상대형광소매활성。rs2161257하조상대형광소매활성，단2개순합자지간몰유현저성차이。rs251466、rs17110586、rs32579화rs7114388상조상대형광소매활성，단rs32579，2개순합자지간몰유현저성차이；기여3개다태성위점재2개순합자지간유현저성차이，재운동원빈솔고적기인형유현저고적상대형광소매활성。결론：rs17110586화rs17114388여우수내력운동원적운동능력상태관련，병차상조기인전록。
Objective：To explore the association of polymorphisms in peroxisome proliferator-ac-tivated receptor-γcoactivator-1 family genes with elite endurance athlete status. Methods：This paper compared genotypic/allelic frequencies in 47 single nucleotide polymorphisms （SNPs） of the two genes （PGC-1β and PRC） between 235 elite runners and 504 healthy non-athletes 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 genotype and allele frequencies of 6 SNPs （rs17110586, rs32579, rs2161257, rs17600568, rs7114388 and rs4817960） are significant different between elite endurance athletes and controls, 4 in PGC-1β and 2 in PRC, respectively. The allele frequency of rs251466 is significant different between athletes and controls, rs17600568 and rs4917960 do not change the relative luciferase activi-ty. rs2161257 down-regulate it and rs32579 up-regulate it, but the two homozygous do not have significant difference, rs251466, rs17110586 and rs17114388 up-regulate the relative luciferase activity, and there is significant difference between two homozygous. Conclusion： The findings suggest that rs 17110586 and rs 17114388 polymorphisms have functional significance and show evidence of association with elite endurance performance in Northern Chinese Han population.