Summary statistics-lean mass | Summary statistics-appendicular lean body mass | README
Publication
Multi-ancestry whole genome sequencing analysis of lean body mass.
Zhang X, Su KJ, Banerjee B, Eres I, Hsu YH, Crandall CJ, Donaka R, Han Z, Jackson RD, Liu H, Luo Z, Mitchell BD, Qiu C, Tian Q, Shen H, Tsai MJ, Wiggins KL, Xu H, Yau M, Zhao LJ, Zhang X, Montasser ME, Kiel DP, Deng HW, Liu CT, et al.
Genome Biology. 2025 Apr 28;26(1):106. doi: 10.1186/s13059-025-03520-x.
PMID: 40296127
Phenotypes
- Whole-body lean mass (WB-LM)
- Appendicular lean mass (A-LM)
Experiment summary
This study performed a multi-ancestry whole-genome sequencing meta-analysis of lean body mass in 6260 females from six TOPMed cohorts and the Louisiana Osteoporosis Study, with replication in UK Biobank. The analysis identified seven genome-wide significant loci, uncovered sex-specific rare-variant signals (including DMAC1 in females), and highlighted candidate genes with functional support from animal models (e.g., EMP2 in Drosophila mobility and SSUH2 in zebrafish muscle fiber growth).