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

Juan L. Martínez, Aleshka Carrión, Maria E. Florián, José A. Martín, Juan R. López-Taylor, Thomas D. Fahey, Miguel A. Rivera
2009 Medicina Sportiva  
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
more » ... e 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.
doi:10.2478/v10036-009-0039-9 fatcat:layaaxpnhfdgxmsxdvftjl75o4