Abstract
BackgroundThe aim of this study was to determine the genotype distribution and allelic frequencies of ACE (I/D), AGTR1 (A +1166 C), BDKRB2 (+9/−9) and LEP (G–2548A) genomic variations in 175 Greek athletes who excelled at a national and/or international level and 169 healthy Greek adults to identify whether some particular combinations of these loci might serve as predictive markers for superior physical condition.ResultsThe D/D genotype of the ACE gene (p = 0.034) combined with the simultaneous existence of BDKRB2 (+9/−9) (p = 0.001) or LEP (G/A) (p = 0.021) genotypes was the most prevalent among female athletes compared to female controls. A statistical trend was also observed in BDKRB2 (+9/−9) and LEP (G–2548A) heterozygous genotypes among male and female Greek athletes, and in ACE (I/D) only in male athletes. Finally, both male and female athletes showed the highest rates in the AGTR1 (A/A) genotype.ConclusionsOur results suggest that the co-existence of ACE (D/D), BDKRB2 (+9/−9) or LEP (G/A) genotypes in female athletes might be correlated with a superior level of physical performance.
Highlights
Genetic polymorphisms that act as potential mediators of the human health and physical performance are targets for many research groups attempting to unravel their role to the genetic predisposition for a superior performance and endurance
We have investigated the presence of known polymorphisms named angiotensin-converting enzyme (ACE) (I/D), AGTR1 (A +1166 C) and BDKRB2 (+9/−9) along the renin-angiotensin system (RAS) biochemical pathway as well as the one in the promoter of the LEP gene (G–2548A)
Genotypic distribution For all four polymorphisms studied, among male athletes versus male controls, the highest percentages of male athletes appeared as heterozygotes for ACE (I/D), BDKRB2 (+9/−9) and LEP (G/A) genes and homozygotes (A/A) for AGTR1 gene polymorphism
Summary
Genetic polymorphisms that act as potential mediators of the human health and physical performance are targets for many research groups attempting to unravel their role to the genetic predisposition for a superior performance and endurance. One of the most extensively studied genome variations, widely associated with the human performance over the last decade, was the insertion (I) or deletion (D) of 287-bp Alu repeats within intron 16 of the angiotensin-converting enzyme (ACE) gene [rs1799752] [2,3]. The aim of this study was to determine the genotype distribution and allelic frequencies of ACE (I/D), AGTR1 (A +1166 C), BDKRB2 (+9/−9) and LEP (G–2548A) genomic variations in 175 Greek athletes who excelled at a national and/or international level and 169 healthy Greek adults to identify whether some particular combinations of these loci might serve as predictive markers for superior physical condition
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