摘要
目的:通过全基因组关联分析筛选与汉族青年12周抗阻训练增肌效果关联的遗传分子标记,并结合生物信息学方法探究新发现的遗传分子标记影响抗阻训练增肌效果的可能机制,进一步构建多基因预测分数模型(Polygenic Scores,PGS)为精准化抗阻训练方案的制定提供参考。方法:187名久坐汉族青年完成12周抗阻训练(男性占比:48.53%),联合股四头肌中段厚度(Quadriceps Muscle Thickness,THK-QUAD)和全身瘦体重(lean-body mass,LBM)变化评测增肌效果。抽取静脉血5 mL,采用TIANGEN DNA提取试剂盒提取受试者的DNA,应用Illumina Infinium CGA-24v1-0芯片进行基因分型。,采用全基因组关联分析和生物信息学分析方法完成数据分析。结果:1)12周抗阻训练后,LBM和THK-QUAD均表现出极显著提升(P<0.01),但△LBM和△THK-QUAD的变异系数分别为0.84和0.60,提示具有较大的个体差异性;2)GWAS分析发现9个SNPs与△LBM存在显著关联(P<1×10^(-5)),8个SNPs与△THK-QUAD存在显著关联(P<1×10^(-5));基于17个SNPs计算的PGS与△LBM和△THK-QUAD存在正相关的线性关系,R2分别为0.1236和0.3156;通过ROC曲线得出PGS低于-0.683分无法从当前运动干预中获得较高增肌效果,PGS高于-0.103分则可以在当前运动干预中取得良好的增肌效果;3)生物信息学分析提示17个SNPs可能与181种基因的表达存在关系,这181个基因富集于3种通路以及17种生物功能中,并且有5个基因(NPC1、ENDOG、MT3、SMAD4、OSBPL2)在多条通路中发挥作用。结论:本研究首次基于GWAS在汉族青年抗阻训练队列发现17个新的SNPs可用于抗阻训练增肌效果预测的遗传分子标记;富集分析发现以NPC1、ENDOG、MT3、SMAD4、OSBPL2为主的一系列基因,可能通过调节金属离子转运与细胞内稳态维持、胆固醇转运以及代谢和骨骼肌重塑过程等途径影响抗阻训练增肌效果;基于17个SNPs计算的PGS评分高于-0.103分则能够取得较好的增肌效果
Purpose:This paper aims to conduct a Genome-wide Association Studies(GWAS)to identify genetic markers associated with the muscle-building effects of 12 weeks of resistance training among young Han Chinese individuals,and explore the potential mechanisms through which newly discovered genetic markers may impact the effectiveness of resistance training by employing bioinformatics methods.The ultimate goal is to construct a Poly⁃genic Scores(PGS)model incorporating multiple genes to provide a reference for personalized resistance training programs.Methods:A total of 187 sedentary Han Chinese youth(48.53%male)completed a 12-week resistance training program,with muscle-building effects assessed through changes in Quadriceps Muscle Thickness(THKQUAD)and lean-body mass(LBM).Venous blood samples(5 ml)were collected,and DNA was extracted usling the TIANGEN DNA extraction kit.Genotyping was performed using the Illumina Infinium CGA-24v1-0 chip.GWAS analysis and bioinformatics analysis were used to complete the data analysis.Result:1)After 12 weeks of resistance training,both LBM and THK-QUAD showed significant increases(P<0.01),but individual variations in△LBM and△THK-QUAD were substantial,with Coefficient of Variation(CV)of 0.84 and 0.60,respectively;2)GWAS analysis showed that 9 SNPs were significantly correlated with△LBM(P<1×10^(-5)),and 8 SNPs were correlated considerably with△THK-QUAD(P<1×10^(-5));PGS based on 17 SNPs showed a positive linear relation⁃ship with△LBM and△THK-QUAD,with R2 valuses of 0.1236 and 0.3156,respectively.According to the ROC curve,PGS below-0.683 was associated with limited muscle-building effects after the current exercise interven⁃tion,while PGS above-0.103 was indictive of favorable muscle-building effects.3)Bioinformatics analysis sug⁃gested that the 17 SNPs might be related to the expression of 181 genes,enriched in 3 pathways and 17 biological functions,and 5 genes(NPC1,ENDOG,MT3,SMAD4,OSBPL2)played roles in multiple pathways.Conclusion:This study,based on GWAS in a H
作者
顾壮壮
梁丽娟
梁妍
张之豪
李燕春
GU Zhuangzhuang;LIANG Lijuan;LIANG Yan;ZHANG Zhihao;LI Yanchun(Henan Normal University,Xinxiang 453007,Henan China;Beijing Sport University,Beijing 100084,China)
出处
《北京体育大学学报》
CSSCI
北大核心
2024年第3期108-123,共16页
Journal of Beijing Sport University
基金
国家重点研发计划项目“运动健康促进效果个体差异的生物学机制与健身指导方案”(项目编号:SQ2018YFC2000602)
中央高校基本科研业务费专项资金资助课题(项目编号:2015SYS009)
中央高校基本科研业务费专项资金资助(项目编号:2015SYS06)。
