A variant within theAQP13ʹ-untranslated region is associated with running performance, but not weight changes, during an Ironman Triathlon

Abstract

The objective of this study was to test the association of the rs1049305 (G > C) variant within the 3'-untranslated region of the aquaporin 1 gene, AQP1, with changes in body weight, post-race serum sodium concentration and performance in Ironman triathletes. Five hundred and four male Ironman triathletes were genotyped for the rs1049305 variant within the AQP1 gene. Change in pre- and post-race body weight was calculated for 470 triathletes and used as a proxy for changes in body fluid during the race, as well as to divide triathletes into biologically relevant weight-loss groups (0-3%, 3-5% and >5%). There were no rs1049305 genotype effects on post-race serum sodium concentrations (P = 0.647), pre-race weight (P = 0.610) nor relative weight change during the Ironman Triathlons (P = 0.705). In addition, there were no significant differences in genotype (P = 0.640) nor allele (P = 0.643) distributions between the weight loss groups. However, triathletes who carry a C-allele were found to complete the 42.2-km run stage faster (mean 286, s = 49 min) than triathletes with a GG genotype (mean 296, s = 47 min; P = 0.032). The AQP1 rs1049305 variant is associated with running performance, but not relative body weight change, during the 2000, 2001 and 2006 South African Ironman Triathlons.

The Association of Aquaporin-1 Gene with Marathon Running Performance Level: a Confirmatory Study Conducted in Male Hispanic Marathon Runners

“…chi-square test revealed a statistically significant (p = 0.02) difference in the genotype frequency distribution between the cases Values are mean ± standard deviation and controls. The present result replicates and validates the original study [5], see Table 3, and corroborates those of others [8,9].…”

“…Compliance with the latter observations is critical in the exact replication of genetic associations [13,15]. Previous studies [8,9] provided support to the notion that the AQP1 gene could be part of a highly intricate network of molecular, cellular, and biological components that trigger functions and processes specific to CE running performance in humans. Perhaps the extreme complexity of such network interaction, within the human biology and environment variability domain, had been a factor in the lack of consistent results examining candidate genes by others [28,29], while examining the association of genetic markers and MR as well as endurance performance domain across populations.…”

“…The confirmation of a genetic-association finding is vital to identifying true positive genetic variants that may contribute to complex phenotypes, such as MR performance level [6] To confirm findings and make generalizations, the reproduction of results from genetic-association studies should occur using independent samples [7]. Along those lines, an independent study [8] confirmed the original findings of the association between MR performance level and the rs1049305 (C > G), variant within the 3′UTR of the AQP1 gene. This time, the association was evaluated in South African Caucasian male Ironman triathletes (n = 504).…”

KCNA4 Gene Variant is Auxiliary in Endurance Running Performance Level

“…The association between EP and GP in Hispanic MR were independently replicated in a cohort of South African Ironman Triathletes [29]. Numerous other studies confirm the influence of GP on physiological phenotypes that play a role in health and disease [28]. GP describes observed variations in the DNA sequence in each of our nuclear and mitochondrial genomes.…”

“…Recently, researchers considered molecular mechanisms influenced by genetic polymorphisms (GP) to further understand the biological complexity of EP [28]. Previous work from our laboratory has shown associations between EP and GP in Hispanic male 10-km and marathon runners (MR) [20,26].…”