Aquaporin-4 Gene Dna Variant And Endurance Performance Status In Hispanics

Aquaporins are a family of transmembrane proteins that transport water and glycerol across cellular membranes. Aquaporin-4 is abundant in the sarcolemma of skeletal muscle. PURPOSE: to test the hypothesis of an association between an Aquaporin-4 gene polymorphism and endurance performance status in Hispanics. METHODS: DNA samples were successfully genotyped from 240 Hispanics subjects. Cases (n = 162) were long distance runners finishers in the highest 3 percentile, by age and gender, during their participation in an international marathon (42 km) race, while controls (n = 78) were subjects with severely compromised cardiorespiratory functions. The DNA sequence variation was detected by the tetra-primer ARMS-PCR procedure. RESULTS: The three observed genotypes for the controls were in Hardy-Weinberg equilibrium (X2, P>0.05) while those for the cases were not (X2, P<0.05). Allelic frequencies were not significantly different between genders or groups (controls; G = 0.50, A = 0.50 and cases; G = 0.53, A = 0.47; Chi-square P>0.05)). Chi-square analysis for the pooled data for both genders revealed significant differences in genotype (cases; GG = 43%, GA = 20%, AA = 375% and controls; GG = 29%, GA = 42%, CC = 29%; Chi-square = 6.6, df = 2, P = 0.03) frequencies between the cases and controls. CONCLUSIONS: The findings provide some support to the hypothesis that a sequence variant in the aquaporin-4 or a gene in close proximity may influence individual variability in the endurance performance status of Hispanics.