Related Experiment Video
Updated: Dec 15, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Interaction Between ACTN3 (R577X), ACE (I/D), and BDKRB2 (-9/+9) Polymorphisms and Endurance Phenotypes in Brazilian
Severino L D A Neto1, Jose J B Herrera1, Thiago S Rosa1
1Department of Physical Education, Catholic University of Brasília, Brasília, DF, Brazil.
Abstract:
Neto, SLdA, Herrera, JJB, Rosa, TS, de Almeida, SS, Silva, GCB, Ferreira, CES, dos Santos, MAP, Silvino, VO, de Melo, GF. Interaction between ACTN3 (R577X), ACE (I/D), and BDKRB2 (-9/+9) polymorphisms and endurance phenotypes in Brazilian long-distance swimmers. J Strength Cond Res 36(6): 1591-1595, 2022-This study investigated the interactions between the polymorphisms ACTN3 (R577X), ACE (I/D), and BDKRB2 (-9/+9) and their association with endurance phenotypes in Brazilian long-distance swimmers. Twenty-six volunteers (aged 18-30 years) were divided into 2 groups as follows: 19 subelite athletes formed the pool swimming experts (PSE: 400-1500 m) group and 7 elite athletes the open water swimming experts (OWSE: 5-25 km) group. ACTN3 (R577X), ACE (I/D), and BDKRB2 (-9/+9) polymorphisms were genotyped through polymerase chain reaction. A nonathletes control (CON) group derived from studies with the Brazilian population was created. Hardy-Weinberg equilibrium (X2) was observed in all groups. The total genotype score (TGS) associated with endurance phenotypes was used in this study. A significance level was established at p ≤ 0.05. PSE and CON groups had very similar genotyping distribution. The OWSE group had a greater frequency for the genotypes XX (57.1%), ID (57.1%), and the alleles X (71.4%) and I (57.2%) than CON and PSE groups (XX = 21.1 and 21.1%; ID = 47.1 and 52.6% [p > 0.05]; X = 44.0 and 42.1%; I = 45.3 and 42.1%, respectively). Considering BDKRB2, OWSE and PSE groups had a greater frequency of +9/+9 than the CON group (42.9% and 31.6 vs. 27.5%, respectively). Although the expected genotypic distribution was not verified among athletes, the TGS revealed small supremacy of 3-5 typical alleles in the OWSE group (54.8 ± 26.7%) compared with the PSE group (41.2 ± 17.8%) (p = 0.072; confidence interval = 95%; effect size = 0.95). The OWSE group seem to have benefited from the best genotype profile verified for ACTN3 and ACE. However, the results of this work should be approached with caution because of the small number of athletes and polymorphisms assessed.
Related Concept Videos
Incomplete Dominance
Multiple Allele Traits
Introduction to Actin
Actin Polymerization and Cell Motility
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate....
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

