Identification of a Risk Allele at SLC41A3 and a Protective Allele HLA-DPB1*02:01 Associated with Sarcopenia in Japanese
Rare variant analysis identified a deleterious frameshift deletion in SLC41A3 as a risk factor for sarcopenia. Our findings suggest that the suppression of MYOG could play a role in myogenesis or muscle maintenance, although this mutation did not impact the terminal differentiation of human myoblasts. Additionally, HLA analysis revealed that HLA-DPB1*02:01 has a protective effect, especially in Northeast Asian populations. Our study enhances the understanding of the etiology of sarcopenia and provides new insights into the mechanisms of its pathogenesis.
Authors
- Koya Fukunaga (ORCID: https://orcid.org/0000-0002-5241-6062)
- Shosuke Satake (ORCID: https://orcid.org/0000-0003-0301-1461)
- Yasumoto Matsui (ORCID: https://orcid.org/0000-0001-7105-0919)
- Tohru Hosoyama (ORCID: https://orcid.org/0000-0002-1825-6923)
- Marie Takemura
- Daichi Shigemizu (ORCID: https://orcid.org/0000-0002-4412-0552)
- Kouichi Ozaki (ORCID: https://orcid.org/0000-0003-0028-1570)
- Motoki Furutani
- Yukiko Nakano (ORCID: https://orcid.org/0000-0002-1799-1205)
- Shumpei Niida (ORCID: https://orcid.org/0000-0002-6192-8035)
- Taisei Mushiroda (ORCID: https://orcid.org/0000-0002-4139-8794)
- Mutsumi Suganuma
- Tetsuaki Kimura (ORCID: https://orcid.org/0000-0002-2010-104X)
Institutions
- Hiroshima University (JP)
- RIKEN Center for Integrative Medical Sciences (JP)
- National Center for Geriatrics and Gerontology (JP)
Publication Details
- Journal
- Gerontology
- Published
- 2025-03-18
- DOI
- https://doi.org/10.1159/000545298
- Primary Topic
- Immune Cell Function and Interaction
- Type
- article
- Field-Weighted Citation Impact
- 0.00