医学信息2026，Vol.39Issue(4)：1-6,22,7.DOI:10.3969/j.issn.1006-1959.2026.04.001
肌少症潜在遗传机制的全基因组关联研究
Genome-wide Association Study on the Potential Genetic Mechanism of Sarcopenia
摘要
Abstract
Objective To reveal the potential genetic mechanism of sarcopenia by genome-wide association study(GWAS),and to provide new molecular targets for early diagnosis,prevention and treatment of the disease.Methods A total of 1633 elderly people who had completed whole-genome sequencing in the Zhejiang Provincial Elderly Health Cohort from January 2018 to December 2022 were selected.From January 2021 to June 2024,139 of them were randomly selected for measurement and typing analysis of sarcopenia-related indicators,and GWAS was carried out.Results Through GWAS analysis,35 positive single nucleotide polymorphisms(SNPs)were finally screened out,which were distributed in 32 genes.Each of the eight chromosomes(chr1,chr3,chr4,chr5,chr8,chr11,chr14 and chr15)had a region associated with sarcopenia.The key genes annotated include PRKACB,TMEM108,MND1,HSPB3,ARMC1,NAV2,TTC7B and SLC28A1.After linkage disequilibrium(LD)analysis,there were still two loci without linkage disequilibrium in PRKACB,TMEM108 and ARMC1 genes.Conclusion In this study,35 SNP loci associated with sarcopenia are found,involving 8 chromosomes and 32 genes,among which PRKACB,TMEM108 and ARMC1 genes have independent key loci,revealing the potential genetic mechanism of sarcopenia.关键词
肌少症/全基因组关联研究/基因Key words
Sarcopenia/Genome-wide association study/Genes分类
医药卫生引用本文复制引用
彭欢,方涵,叶强,祁梦瑶,陈小敏,黄洁..肌少症潜在遗传机制的全基因组关联研究[J].医学信息,2026,39(4):1-6,22,7.基金项目
1.浙江省中医药科技计划项目(编号:2021ZB128) （编号:2021ZB128）
2.浙江省基础公益研究计划项目(编号:LGF21H250001) （编号:LGF21H250001）
