Communications Biology (May 2024)

A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals

  • Shuji Ito,
  • Hiroshi Takuwa,
  • Saori Kakehi,
  • Yuki Someya,
  • Hideyoshi Kaga,
  • Nobuyuki Kumahashi,
  • Suguru Kuwata,
  • Takuya Wakatsuki,
  • Masaru Kadowaki,
  • Soichiro Yamamoto,
  • Takafumi 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,
  • Chikashi Terao

DOI
https://doi.org/10.1038/s42003-024-06108-6
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 9

Abstract

Read online

Abstract 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.