Abstract
BackgroundReplication studies are essential for identifying credible associations between alleles and phenotypes. Validation of genotype-phenotype associations in the sports and exercise field is rare. An initial genetic association study suggested that rs1049305 (C > G) in the 3′ untranslated region (3′UTR) of the aquaporin-1 (AQP1) gene was associated with marathon running (MR) performance level in Hispanic males. To validate this finding, we conducted a replication analysis in an independent case-control sample of Hispanic male marathon runners (n = 1430; cases n = 713 and controls n = 717). A meta-analysis was utilized to test the extent of the association between the initial results and the present report. It also provided to test the heterogeneity (variation) between the two studies.ResultsThe replication study showed a statistically significant (p ≤ 0.05) association between rs1049305 (C > G) of the AQP1 gene and MR performance level. Association test results using a fixed effect model for the combined, original study and the present report, yielded an odds ratio = 1.28, 95% confidence interval = 1.13–1.45, p = 0.0001. The extent of the measures of heterogeneity was Tau-squared = 0, H statistic = 1, I2 statistic = 0, and Cochran’s Q test (Q = 0.29; p value 0.59), indicated the variation between studies were due to chance and not to differences in heterogeneity between the two studies. Within the limitations of the present replication, contrast of two studies and its effects on meta-analysis, the findings were robust.ConclusionThis study successfully replicated the results of Martínez et al. (Med Sportiva 13:251-5, 2009). The meta-analysis provided further epidemiological credibility for the hypothesis of association between the DNA rs1049305 (C > G) variation in the 3′UTR of the AQP1 gene and MR running performance level in Hispanics male marathon runners. It is not precluded that a linked DNA structure in the surrounding molecular neighborhood could be of influence by been part of the overly complex phenotype of MR performance level.
Highlights
Aquaporins (AQPs) are integral membrane pore proteins, known as water channels
Evidence from a recent systematic review [4] on the association between AQP1 and endurance performance (EP) indicated that the first effort to evaluate the hypothesis of association between the AQP1 gene Deoxyribonucleic acid (DNA) sequence variant rs1049305 (C > G) in the 3′ untranslated region (3′ UTR) and marathon running (MR) performance level was conducted by Martinez et al [5]
Subjects The present replication study involved 1430 subjects while the initial study by Martinez et al [5] included 784 subjects. This replication study used 646 more subjects than the original study, which reduced the probability of a type II error
Summary
Aquaporins (AQPs) are integral membrane pore proteins, known as water channels. The aquaporin-1 (AQP1) channel is the best known and most studied of the AQP family [1]. The C-allele was more (P = 0.005) prevalent in the cases (i.e., fast runners) than in the controls (slow runners) To date, these data have not been replicated. An initial genetic association study suggested that rs1049305 (C > G) in the 3′ untranslated region (3′UTR) of the aquaporin-1 (AQP1) gene was associated with marathon running (MR) performance level in Hispanic males. To validate this finding, we conducted a replication analysis in an independent case-control sample of Hispanic male marathon runners (n = 1430; cases n = 713 and controls n = 717). It provided to test the heterogeneity (variation) between the two studies
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