Association of alpha-actinin-3 genotype with muscle mass and physical function in community-dwelling older adults

Polymorphisms (rs1815739; R577X) in the gene encoding alpha-actinin-3 (ACTN3) are thought to be associated with body composition and physical function in older people and athletes. RR homozygotes are associated with greater expression of ACTN3 protein in muscle than the X-allele carriers. We aimed to investigate the association between ACTN3 R577X polymorphism and appendicular skeletal muscle mass, walking speed, and muscle strength in older adults.

A cross-sectional analysis was performed on 265 community-dwelling older adults (mean age 74.0 ± 5.8 years, 63.4% female) who provided data on ACTN3 gene polymorphisms and completed surveys in the Tarumizu study conducted between 2018 and 2019. Genetic polymorphisms were categorized as RR homozygous and X allele. Muscle mass was assessed using the appendicular skeletal muscle mass index (ASMI), and physical function was assessed based on walking speed and relative muscle strength. Those in the bottom 25% for each sex were considered “low” and the association with ACTN3 genotype was examined.

Considering ACTN3 polymorphism, 72 participants were RR homozygotes (27.2%) and 193 were X-allele carriers (72.8%). After adjusting for potential confounders, RR homozygosity was associated with not having low muscle mass (odds ratio 0.39, 95% confidence interval 0.19–0.82, p = 0.013) but not with low walking speed and muscle strength.

The association between ACTN3 genotype and physical function in community-dwelling older adults is not clear; however, it is considered to be associated with muscle mass.