School of Medical Instruments and Food Engineering, University of Shanghai for Science and Technology, Shanghai, P.R. China.
Center for Genetic Epidemiology and Genomics, School of Public Health, Soochow University, Jiangsu, P.R. China.
Sci Rep. 2020 Mar 19;10(1):5057. doi: 10.1038/s41598-020-61406-3.
Sarcopenia is characterized by low skeletal muscle, a complex trait with high heritability. With the dramatically increasing prevalence of obesity, obesity and sarcopenia occur simultaneously, a condition known as sarcopenic obesity. Fat mass and obesity-associated (FTO) gene is a candidate gene of obesity. To identify associations between lean mass and FTO gene, we performed a genome-wide association study (GWAS) of lean mass index (LMI) in 2207 unrelated Caucasian subjects and replicated major findings in two replication samples including 6,004 unrelated Caucasian and 38,292 unrelated Caucasian. We found 29 single nucleotide polymorphisms (SNPs) in FTO significantly associated with sarcopenia (combined p-values ranging from 5.92 × 10 to 1.69 × 10). Potential biological functions of SNPs were analyzed by HaploReg v4.1, RegulomeDB, GTEx, IMPC and STRING. Our results provide suggestive evidence that FTO gene is associated with lean mass.
肌肉减少症的特征是骨骼肌含量低，这是一种具有高度遗传性的复杂特征。随着肥胖症患病率的急剧上升，肥胖症和肌肉减少症同时发生，这种情况被称为肌少症性肥胖。脂肪质量和肥胖相关（FTO）基因是肥胖的候选基因。为了确定瘦体重与 FTO 基因之间的关联，我们对 2207 名无血缘关系的白种人进行了瘦体重指数（LMI）的全基因组关联研究（GWAS），并在两个包括 6004 名无血缘关系的白种人和 38292 名无血缘关系的白种人的重复样本中复制了主要发现。我们发现 FTO 中有 29 个单核苷酸多态性（SNP）与肌肉减少症显著相关（综合 p 值范围从 5.92×10 到 1.69×10）。通过 HaploReg v4.1、RegulomeDB、GTEx、IMPC 和 STRING 分析了 SNP 的潜在生物学功能。我们的研究结果提供了有说服力的证据，表明 FTO 基因与瘦体重有关。
