Genome-wide associations reveal human-mouse genetic convergence and novel modifiers of myogenesis, CPNE1 and STC2

Abstract Muscle bulk in adult healthy humans is highly variable even after accounting for height, age and sex. Low muscle mass, due to fewer and/or smaller constituent muscle fibres, would exacerbate the impact of muscle loss occurring in aging or disease. Genetic variability substantially influences muscle mass differences, but causative genes remain largely unknown. In a genome-wide association study (GWAS) on appendicular lean mass (ALM) in a population of 95,545 middle-age (37-48 years) individuals from the UK Biobank we found 125 loci associated with ALM (P