Association Between An Aquaporin-1 Gene DNA Variation And Endurance Performance Status In Hispanics

Tha aquaporin-1 (AQP1) gene codes for a water channel that permits free movement of water across the cell membrane. PURPOSE We examined the association between a DNA sequence variant in the AQP1 gene and endurance performance status in Hispanics. METHODS DNA samples (n = 174) were available from top class male Hispanic marathon runners (cases; n = 102) and subjects with severely compromised cardiorespiratory functions (controls; n = 72). 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 = 10%. GC = 52%, GG = 38%; and controls: CC 12%, GC = 24%, GG =65%). These genotype frequencies were in Hardy-Weinberg equilibrium (X2, P>0.05). Allelic frequencies (cases; C = 0.36, G = 0.64 and controls; C = 0.24, G = 0.76) were not significantly different between groups (Chi-square P>0.05). Comparing genotype frequencies by C allele carrier status revealed a statistically significant (X2 = 4.0, df = 1, P = 0.03) excess of C allele carriers in the cases (carriers = 62%, non-carriers = 38%) versus controls (carriers = 35%; non-carriers = 65%). CONCLUSION In light of the small sample size, one may regard the present indings as providing some support to the hypothesis of an association between a DNA sequence variant in the aquaporin-1 gene or in its surrounding region and endurance performance status in Hispanics. Supported by CRC-RCMI 1P20RR11126, RCMI #G12RR03051, Comite de Fondismo: FPRA, Maraton Pacifico, Maraton de Guadalajara, and Maraton Popular de Madrid.