A genome-wide association study identifies a locus associated with knee extension strength in older people Article Swipe

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Sarcopenia Myotonic dystrophy Genome-wide association study Skeletal muscle Muscle strength Locus (genetics) Medicine Genetic association Genetics Single-nucleotide polymorphism Biology Internal medicine Gene Genotype

Chikashi Terao , Shuji Ito , Hiroshi Takuwa , Saori Kakehi , Yuki Someya , Hideyoshi Kaga , Nobuyuki Kumahashi , Suguru Kuwata , Takuya Wakatsuki , Masaru Kadowaki , Soichiro Yamamoto , Tkafumi Abe , Miwako Takeda , Yuki Ishikawa , Xiaoxi Liu , Nao Otomo , Hiroyuki Suetsugu , Yoshinao Koike , Keiko Hikino , Kohei Tomizuka , Yukihide Momozawa , Kouichi Ozaki , Minoru Isomura , Toru Nabika , Haruka Kaneko , Muneaki Ishijima , Ryuzo Kawamori , Hirotaka Watada , Yoshifumi Tamura , Yuji Uchio , Shiro Ikegawa ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.21203/rs.3.rs-3171930/v1 · OA: W4385197879

<title>Abstract</title> 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 3,452 Japanese aged 60 years or older from two independent cohorts. We identified a significant association in <italic>TACC2</italic> (transforming acidic coiled-coil-containing 2) (<italic>P</italic> = 4.2 × 10<sup>− 8</sup>). <italic>TACC2</italic>, 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 <italic>TACC2</italic> as a potential therapeutic target for sarcopenia.