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期刊信息
  • 主管单位:
  • 上海市教育委员会
  • 主办单位:
  • 上海理工大学
  • 主  编:
  • 庄松林
  • 地  址:
  • 上海市军工路516号
  • 邮政编码:
  • 200093
  • 联系电话:
  • 021-55277251
  • 电子邮件:
  • xbzrb@usst.edu.cn
  • 国际标准刊号:
  • 1007-6735
  • 国内统一刊号:
  • 31-1739/T
  • 邮发代号:
  • 4-401
  • 单  价:
  • 15.00
  • 定  价:
  • 90.00
冉姝,刘宇,张宇雪,刘宝林.基于美国高加索人群瘦体重的全基因组关联研究[J].上海理工大学学报,2020,42(4):411-416.
基于美国高加索人群瘦体重的全基因组关联研究
Genome-wide association study of lean body mass in American Caucasian population
投稿时间:2019-03-29  
DOI:10.13255/j.cnki.jusst.20190329002
中文关键词:  瘦体重  肌少症  表达数量性状基因座  全基因组关联分析
英文关键词:lean body mass  sarcopenia  expression quantitative trait loci  genome-wide association study
基金项目:国家自然科学基金资助项目(31571291)
作者单位
冉姝 上海理工大学 医疗器械与食品学院上海 200093 
刘宇 上海理工大学 医疗器械与食品学院上海 200093 
张宇雪 上海理工大学 医疗器械与食品学院上海 200093 
刘宝林 上海理工大学 医疗器械与食品学院上海 200093 
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中文摘要:
      为了寻找与瘦体重相关的单核苷酸多态性(SNP)位点及易感基因,在2 283名不相关的美国高加索人群中对瘦体重指数(LMI)进行全基因组关联分析(GWAS),并在1 000名不相关的美国高加索人群中验证,将研究结果与验证结果进行荟萃分析。研究发现,位于19p13.3区域的UQCR,MBD3和TCF3基因与LMI相关联。UQCR基因上rs8697(合并p=4.94×10-3)和rs56122285(合并p=2.59×10-3)具有eQTL效应,MBD3基因上rs8110543(合并p=6.88×10-3)和rs7252741(合并p=1.22×10-2)具有eQTL效应,DB得分分别为1b和1f。本研究进一步证实了UQCR,MBD3和TCF3基因在瘦体重变异中的作用,对肌少症的认识提供新的理论依据。
英文摘要:
      Lean body mass (LBM), a good index for skeletal muscle quantity and quality, is regarded as the important predictor of sarcopenia. To find the single nucleotide polymorphisms (SNP) loci and susceptibile genes associated with LBM, a genome-wide association study (GWAS) on the lean mass index (LMI) of 2 283 unrelated American Caucasian samples was performed and replicated on that of 1 000 unrelated American Caucasian samples. Then, a meta-analysis of the GWAS results and replication results was carried out. The genes UQCR, MBD3 and TCF3, located in the 19p13.3 region, are found to be associated with LMI. rs8697 (p=4.94×10-3) and rs56122285 (p=2.59×10-3) on UQCR gene are of eQTL (expression quantitative trait loci) effects, and rs8110543 (p=6.88×10-3) and rs7252741 (p=1.22×10-2) on MBD3 gene are also of eQTL effects, their DB scores are 1b and 1f respectively. The study further confirms the role of UQCR, MBD3 and TCF3 genes in lean body mass variability, and provides a new theoretical basis for the understanding of sarcopenia.
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