Genomic profile in association with sport-type, sex, ethnicity, psychological traits and sport injuries of elite athletes

The Relationship between ACE, ACTN3 and MCT1 Genetic Polymorphisms and Athletic Performance in Elite Rugby Union Players: A Preliminary Study

“…Moreover, considering the T-dominant model for MCT1 , the AA genotype remains significantly faster than TT+AT variants both in the 505 agility test and in the 20 m sprint test, with a moderate effect size. Furthermore, previous studies [ 5 , 14 ] suggested that the TT genotype characterized elite sprint/power athletic status; our data confirm this finding in peak vertical power, where TT genotype group reported significantly larger values than AT genotype, with a moderate effect size. These data must be interpreted with caution because of the small number of players in the TT group.…”

“…Sports genetics relates to the genotypic basis of sport phenotype. Angiotensin-converting enzyme ( ACE ) and alfa-actinin 3 ( ACTN3 ) are two of the most studied genes influencing endurance, strength/power and other phenotypic traits concerning athletic performance [ 2 , 4 , 5 ], while monocarboxylate transporter 1 ( MCT1 ) gene analysis, instead, showed correlations with skeletal muscles capacity to take up lactate from the circulation [ 6 ] which is linked with elite sprint/power athletic status [ 7 ].…”

“…It is considered by Woods [ 8 ] not a “gene for human performance, but a marker of modulation”. Among others, ACE is associated with endurance polygenic [ 2 , 4 , 5 , 8 ]. Generally, the I allele is more frequent in elite endurance athletes, while the D allele among those engaged in more power-oriented sports, given the enzyme highest fast-twitch muscle fibers [ 2 , 4 , 5 , 8 ].…”

“…Among others, ACE is associated with endurance polygenic [ 2 , 4 , 5 , 8 ]. Generally, the I allele is more frequent in elite endurance athletes, while the D allele among those engaged in more power-oriented sports, given the enzyme highest fast-twitch muscle fibers [ 2 , 4 , 5 , 8 ]. ACTN3 is known as the “speed gene” [ 9 ] and more recently it has been investigated with its association with physical performance.…”

“…In humans, ACTN3 is expressed only in type II muscle fibers (fast twitch). The R allele was found more frequent in speed, power and strength athletes than non-athletes [ 2 , 4 , 5 , 10 ], while it seems that the XX genotype tends to be associated with endurance [ 2 , 5 , 10 ]. MCT1 has been found particularly in oxidative muscle fibers with high mitochondrial content (type I—slow twitch).…”