Aquaporin-1 Gene DNA Variation Predicts Performance in Hispanic Marathon Runners

Abstract

Introduction and aim of the study: We examined the association between a DNA sequence variant in the aquaporin-1 (AQP1) gene and performance in Hispanic marathon runners. Materials and methods: DNA samples (N = 784) were obtained from apparently healthy, biologically unrelated, ethnically matched Hispanic marathon runners who participated in international level marathons in Spain and Mexico. Cases (n = 396; men= 225; women=171) finished in the top 3 rd percentile for their age and gender, while Controls (n = 388; men=221 women=167) finished in the lowest 3 rd percentile. The AQP1 gene DNA sequence variant was detected by the tetra-primer ARMS-PCR procedure which targeted an area of 984 base pairs in the 3' untranslated region that included the polymorphic site (C-G). Results: The three expected AQP1 genotypes were observed in both groups (Cases: CC = 15%. GC = 42%, GG = 43%; and Controls: CC = 10%, GC = 39%, GG = 51%). These genotype frequencies were in Hardy-Weinberg equilibrium (X 2 , P≥0.05) and significantly (X 2 = 6.94, P=0.03) different between the Cases and Controls. The Allelic frequencies (Cases; C = 0.36, G = 0.64 and Controls; C = 0.30, G = 0.70) were significantly (X 2 = 7.55, P=0.005) different between groups. The Odds ratio = 1.35; 95% confidence interval = 1.08-1.67, suggested that the C allele was more prevalent in Cases than Controls. Conclusions: This study showed an association between a DNA sequence variant in the aquaporin-1 gene or in its surrounding region and performance in Hispanic marathon runners.

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

“…The association of the CG and CC genotypes with faster running performance is consistent with that observed by both Martínez et al (2009) and Rivera et al (2011). Martínez et al (2009) observed the C-allele at a higher frequency in Hispanic marathon runners who finished in the top 3% (n = 396; C-allele: 36%), compared to those who finished in the bottom 3% (n = 388; Callele: 30%) of their respective age and gender categories (odds ratio 1.35; 95% confidence interval 1.08-1.67; P = 0.005). Rivera et al (2011) observed that recreational long distance runners who carried a C-allele (CG or CC genotypes; n = 50) completed a …”

“…Five hundred and four (504) The distribution of AQP1 rs1049305 genotypes in the triathletes included in this study did not differ significantly from Hardy-Weinberg equilibrium and were similar to those reported elsewhere (Fábrega et al, 2011;Martínez et al, 2009;Rivera et al, 2011). There were no genotype effects on any physiological characteristics of the triathletes, including age (P = 0.343), height (P = 0.678), body mass index (P = 0.703), pre-race serum sodium concentration (P = 0.848), post-race serum sodium concentration (P = 0.647), pre-race weight (P = 0.610) nor relative weight change during the Ironman Triathlons (P = 0.705) ( Table I) (Table I).…”

“…Carriers of the C-allele also completed the 10-km road race significantly faster (approximately 37 min) than athletes with the GG genotype (approximately 43 min, P < 0.05). Similarly, the C-allele was observed at a higher prevalence within the fastest 3% (n = 396) compared with the slowest 3% (n = 388) of a sample of Hispanic marathon runners (Odds ratio 1.35; 95% confidence interval 1.08-1.67; P = 0.005) (Martínez et al, 2009). It is important to note that, to the authors' current knowledge, none of these genetic associations with body fluid and/or weight loss have been replicated in independent populations.…”

“…The transport of water molecules through this channel is driven by transmembrane osmotic gradients (Rivera et al, 2011). AQP1 is located on human chromosome 7p14 and contains a G > C single nucleotide polymorphism (rs1049305) within the 3ʹ-untranslated region of the gene (Martínez et al, 2009;Moon, Preston, Griffin, Jabs, & Agre, 1993). In contrast to the previously reported associations with exercise induced body fluid loss and exercise performance, the rs1049305 C-allele has been implicated in water retention in Caucasian patients with liver cirrhosis (Fábrega et al, 2011).…”

Current Progress in Sports Genomics

“…During osmotic stress, such as occurs during intense exercise, AQP1 facilitates the transfer of water from the blood into the muscle, provides osmotic protection, and promotes water reabsorption. Martínez et al [51] have examined the association between AQP1 gene rs1049305 C/G polymorphism (in the 3 0 -UTR) and athletic performance in 784 Hispanic international level marathon runners. Athletes were divided into two groups: (1) cases (n ¼ 396), finished in the top third tertile for their age and gender;…”