Association of the ACTN3 genotype and physical functioning with age in older adults.
OBJECTIVE
The purpose of this study was to examine the association of the alpha-actinin-3 (ACTN3) R577X polymorphism on muscle function and physical performance in older adults.


METHODS
We measured knee extensor torque, midthigh muscle cross-sectional area, muscle quality, short physical performance battery score, and 400-meter walk time at baseline and after 5 years in white older adults aged 70-79 years in the Health, Aging and Body Composition Study cohort (n = 1367). Incident persistent lower extremity limitation (PLL) over 5 years was additionally assessed. We also examined white men in the Osteoporotic Fractures in Men Study, a longitudinal, observational cohort (n = 1152) of men 65 years old or older as a validation cohort for certain phenotypes.


RESULTS
There were no significant differences between genotype groups in men or women for adjusted baseline phenotypes. Male X-homozygotes had a significantly greater adjusted 5-year increase in their 400-meter walk time compared to R-homozygotes and heterozygotes (p =.03). In women, X-homozygotes had a approximately 35% greater risk of incident PLL compared to R-homozygotes (hazard ratio = 0.65, 95% confidence interval = 0.44-0.94). There were no other significant associations between any of the phenotypes and ACTN3 genotype with aging in either cohort.


CONCLUSIONS
The ACTN3 polymorphism may influence declines in certain measures of physical performance with aging in older white adults, based on longitudinal assessments. However, the influence of the ACTN3 R577X polymorphism does not appear to have a strong effect on skeletal muscle-related phenotypes based on the strength and consistency of the associations and lack of replication with regard to specific phenotypes.
Delmonico
Matthew J
MJ
Department of Epidemiology, University of Pittsburg , Pittsburg, PA, USA. delmonico@uri.edu
Zmuda
Joseph M
JM
Taylor
Brent C
BC
Cauley
Jane A
JA
Harris
Tamara B
TB
Manini
Todd M
TM
Schwartz
Ann
A
Li
Rongling
R
Roth
Stephen M
SM
Hurley
Ben F
BF
Bauer
Douglas C
DC
Ferrell
Robert E
RE
Newman
Anne B
AB
D000185:Actinin / Q000235:genetics*; D000368:Aged; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009043:Motor Activity / Q000502:physiology*; D018482:Muscle, Skeletal / Q000502:physiology*; D011110:Polymorphism, Genetic
C118456:ACTN3 protein, human; D000185:Actinin