【摘要】 目的 探索成纤维细胞生长因子19 (FGF19)及其专性共受体基因KLB、受体FGFR4与肌少症发病的关联，为研究肌少症发病机制和制定精准化干预措施提供依据。方法 采用病例对照研究方法，基于浙江省老年人健康监测队列纳入≥60岁肌少症病例为肌少症组，≥60岁正常居民为对照组。采用问卷调查收集基本情况；测量身高、体重、四肢骨骼肌质量和握力等；提取DNA采用多重PCR靶向捕获技术测序；采用多因素logistic回归模型分析单核苷酸多态性位点（SNP）不同遗传模型与肌少症的关联。结果 肌少症组纳入200例，其中男性91例，女性109例；对照组纳入180人，其中男性70人，女性110人。各候选SNP均符合哈迪-温伯格平衡，最小等位基因频率均>0.05，肌少症组与对照组SNP分布差异无统计学意义（均P>0.05）。多因素logistic回归分析结果显示，老年男性KLB基因的rs2687968位点在超显性模型中与肌少症存在统计学关联，AC型等位基因携带者患肌少症的风险是AA/CC型携带者的2.332倍（95%CI:1.882～3.313）。结论 KLB基因与老年男性肌少症可能存在关联。更多还原

【Abstract】 Objective To examine the associations of fibroblast growth factor 19(FGF19), its co-receptor KLB gene and its receptor FGFR4 with susceptibility to sarcopenia, so as to provide insights into elucidation of sarcopenia pathogenesis and formulation of precision interventions for sarcopenia.Methods A case-control study was conducted. Patients with sarcopenia at ages of 60 years and older included in the Zhejiang Provincial Elderly Health Surveillance Cohorts were selected as the sarcopenia group, and normal residents at ages of 60 years and older were served as controls. Subjects’ demographics were collected using questionnaire surveys, and the height, body weight, appendicular skeletal muscle mass and grip strength were measured. Genomic DNA was extracted from blood samples for multiplex PCR targeted capture. The associations between the KLB gene single-nucleotide polymorphisms(SNPs) and susceptibility to sarcopenia were evaluated using multivariable logistic regression models.Results including 91 men and 109 women, and 180 cases in the control group, including 70 men and 110 women. All SNPs satisfied the Hardy-Weinberg equilibrium, and the minor allele frequencies were all > 0.05. There were no significant differences in the distribution of SNPs between the sarcopenia and control groups(all P>0.05). Multivariable logistic regression analysis showed that the SNP rs2687968 locus in the KLB gene was significantly associated with the susceptibility to sarcopenia among the elderly men(superdominant model), and individuals carrying the AC allele had a 2.332-fold higher risk of sarcopenia than those carrying the AA/CC allele(95%CI: 1.882-3.313).Conclusion KLBgene may correlate with the susceptibility to sarcopenia among the elderly men.更多还原