The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

Loss of expression of ACTN3, due to homozygosity of the common null polymorphism (p.Arg577X), is underrepresented in elite sprint/power athletes and has been associated with reduced muscle mass and strength in humans and mice. To investigate ACTN3 gene dosage in performance and whether expression could enhance muscle force, we performed meta-analysis and expression studies. Our general meta-analysis using a Bayesian random effects model in elite sprint/power athlete cohorts demonstrated a consistent homozygous-group effect across studies (per allele OR = 1.4, 95% CI 1.3 –1.6) but substantial heterogeneity in heterozygotes.

Source: The American Journal of Human Genetics - April 26, 2018 Category: Genetics & Stem Cells Authors: Fleur C. Garton, Peter J. Houweling, Damjan Vukcevic, Lyra R. Meehan, Fiona X.Z. Lee, Monkol Lek, Kelly N. Roeszler, Marshall W. Hogarth, Chrystal F. Tiong, Diana Zannino, Nan Yang, Stephen Leslie, Paul Gregorevic, Stewart I. Head, Jane T. Seto, Kathryn N Tags: Article Source Type: research