肌少症潜在遗传机制的全基因组关联研究OA
Genome-wide Association Study on the Potential Genetic Mechanism of Sarcopenia
目的 通过全基因组关联研究(GWAS)揭示肌少症的潜在遗传机制,为该疾病的早期诊断、预防和治疗提供新的分子靶点.方法 选择 2018 年 1 月-2022 年 12 月在浙江省老年健康队列中已完成全基因测序的 1633 名老年人,于 2021 年 1 月-2024年6 月随机抽样选择其中 139 人进行肌少症相关指标的测量与分型分析,开展GWAS.结果 通过GWAS分析,最终筛选出 35 个阳性单核苷酸多态性位点(SNP),这些位点分布在 32 个基因中.在 8 条染色体(chr1、chr3、chr4、chr5、chr8、chr11、chr14 与chr15)上,各自存在 1 个与肌少症相关的区域.注释到的关键基因包括PRKACB、TMEM108、MND1、HSPB3、ARMC1、NAV2、TTC7B和SLC28A1.通过连锁不平衡(LD)分析后,PRKACB、TMEM108 与ARMC1 基因上仍存在两个无连锁不平衡的位点.结论 本研究发现 35 个与肌少症相关的SNP位点,涉及 8 条染色体和 32 个基因,其中PRKACB、TMEM108 和ARMC1 基因具有独立的关键位点,揭示了肌少症的潜在遗传机制.
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.
彭欢;方涵;叶强;祁梦瑶;陈小敏;黄洁
浙江中医药大学第二临床医学院,浙江 杭州 310053浙江中医药大学第二临床医学院,浙江 杭州 310053浙江中医药大学第二临床医学院,浙江 杭州 310053浙江中医药大学第二临床医学院,浙江 杭州 310053浙江中医药大学第二临床医学院,浙江 杭州 310053浙江中医药大学附属第二医院老年医学科,浙江 杭州 310005
医药卫生
肌少症全基因组关联研究基因
SarcopeniaGenome-wide association studyGenes
《医学信息》 2026 (4)
1-6,22,7
1.浙江省中医药科技计划项目(编号:2021ZB128)2.浙江省基础公益研究计划项目(编号:LGF21H250001)
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