title: Interaction Between ACE I/D and ACTN3 R557X Polymorphisms in Polish Competitive Swimmers.
abstract: We hypothesized that the ACE ID / ACTN3 R577X genotype combination was associated with sprint and endurance performance. Therefore, the purpose of the present study was to determine the interaction between both ACE ID and ACTN3 R577X polymorphisms and sprint and endurance performance in swimmers. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a real-time poly- merase chain reaction. The ACE I/D and the ACTN3 R577X genotype frequencies met Hardy-Weinberg expectations in both swimmers and controls. When the two swimmer groups, long distance swimmers (LDS) and short distance swimmers (SDS), were compared with control subjects in a single test, a significant association was found only for the ACE polymorphism, but not for ACTN3. Additionally, four ACE/ACTN3 combined genotypes (ID/RX, ID/XX, II/RX and II/XX) were statistically significant for the LDS versus Control comparison, but none for the SDS versus Control comparison. The ACE I/D and the ACTN3 R577X polymorphisms did not show any association with sprint swimming, taken individually or in combination. In spite of numerous previous reports of associations with athletic status or sprint performance in other sports, the ACTN3 R577X polymorphism, in contrast to ACE I/D, was not significantly associated with elite swimming status when considered individually. However, the combined analysis of the two loci suggests that the co-occurrence of the ACE I and ACTN3 X alleles may be beneficial to swimmers who compete in long distance races.
authors.affiliation: Department of Physical Education and Sport, West Pomeranian Technological University, Szczecin, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Grenda
authors.affiliation: Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Leońska-Duniec
authors.affiliation: Faculty of Tourism and Recreation, Academy of Physical Education and Sport, Gdansk, Poland.
authors.forename: Mariusz
authors.initials: M
authors.lastname: Kaczmarczyk
authors.affiliation: Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Ficek
authors.affiliation: University of Rzeszow, Department of Physical Culture, Rzeszow, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Król
authors.affiliation: Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Cięszczyk
authors.affiliation: Institute of Sport in Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Zmijewski
keywords: ACE; ACTN3; gene polymorphism; swimming