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1.
Commun Biol ; 7(1): 513, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769351

RESUMO

Sarcopenia is a common skeletal muscle disease in older people. Lower limb muscle strength is a good predictive value for sarcopenia; however, little is known about its genetic components. Here, we conducted a genome-wide association study (GWAS) for knee extension strength in a total of 3452 Japanese aged 60 years or older from two independent cohorts. We identified a significant locus, rs10749438 which is an intronic variant in TACC2 (transforming acidic coiled-coil-containing 2) (P = 4.2 × 10-8). TACC2, encoding a cytoskeleton-related protein, is highly expressed in skeletal muscle, and is reported as a target of myotonic dystrophy 1-associated splicing alterations. These suggest that changes in TACC2 expression are associated with variations in muscle strength in older people. The association was consistently observed in young and middle-aged subjects. Our findings would shed light on genetic components of lower limb muscle strength and indicate TACC2 as a potential therapeutic target for sarcopenia.


Assuntos
Estudo de Associação Genômica Ampla , Força Muscular , Humanos , Idoso , Masculino , Feminino , Força Muscular/genética , Pessoa de Meia-Idade , Japão , Sarcopenia/genética , Sarcopenia/fisiopatologia , Polimorfismo de Nucleotídeo Único , Músculo Esquelético/metabolismo , Joelho , Povo Asiático/genética , População do Leste Asiático
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