Human angiotensin-converting enzyme I/D and alpha-actinin 3 R577X genotypes and muscle functional and contractile properties

The angiotensin-converting enzyme (ACE) I/D and α-actinin 3 (ACTN3) R/X polymorphisms have been suggested to influence variations in skeletal muscle function. This study investigated the association between ACE I/D and ACTN3 R/X polymorphisms and muscle strength and contractile properties in young UK Caucasian men. Measurements of the knee extensor muscles were taken from 79 recreationally active but non-strength-trained males on two occasions. Isometric knee extensor strength was measured using a conventional strength-testing chair. Maximal twitches were electrically evoked by percutaneous stimulation to assess time-to-peak tension, half-relaxation time and peak rate of force development. The torque–velocity relationship was measured at four angular velocities (0, 30, 90 and 240 deg s−1) using isokinetic dynamometry, and the relative torque at high velocity was calculated (torque at 240 deg s−1 as a percentage of that at 30 deg s−1). The ACE I/D and ACTN3 R/X polymorphisms were genotyped from whole blood by polymerase chain reaction. Serum ACE activity was assayed from serum using automated spectrophotometry. Physical characteristics were independent of either genotype. Absolute and relative high-velocity torque were not influenced by ACE or ACTN3 genotypes. Isometric strength and the time course of a maximal twitch were independent of ACE and ACTN3 genotypes. Serum ACE activity was significantly dependent on ACE genotype (P < 0.001), but was not associated with any measure of functional or contractile properties. Knee extensor functional and contractile properties, including high-velocity strength, were not influenced by ACE and ACTN3 polymorphisms in a cohort of UK Caucasian males. Any influence of these individual polymorphisms on human skeletal muscle does not appear to be of sufficient magnitude to influence function in free-living UK Caucasian men.