Abstract
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 × 10−12 to 1.69 × 10−9). 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.
Highlights
Sarcopenia is a complex disease described as the age-associated loss of skeletal muscle mass, strength and function impairment[1,2]
Fat mass and obesity-associated (FTO) gene is proved the association with fat mass, which contributes to human obesity[16,17,18,19,20,21]
Zillikens et al reported a series of single nucleotide polymorphisms (SNPs) of FTO associated with lean body mass (LBM) and appendicular lean mass (ALM)[30]
Summary
Sarcopenia is a complex disease described as the age-associated loss of skeletal muscle mass, strength and function impairment[1,2]. The low skeletal muscle mass will lead to many public health problems such as sarcopenia, osteoporosis and increased mortality[3,4], especially in the elderly. FTO gene is proved the association with fat mass, which contributes to human obesity[16,17,18,19,20,21]. FTO gene is proved the association with lean mass[22,23,26,27,28,29,30,31]. Zillikens et al reported a series of SNPs of FTO associated with LBM and appendicular lean mass (ALM)[30]. We replicated our findings in two replication samples, including 6,004 unrelated Caucasians and 38,292 unrelated Caucasians subjects[30]
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