Key result
AQP1 rs1049305 C-allele linked to ~28% greater odds of faster marathon performance in Hispanic males.
Why the study?
Validation of genotype-phenotype associations in sports is rare, prompting replication of an initial study suggesting the AQP1 rs1049305 variant was associated with marathon performance in Hispanic males.
Does the AQP1 rs1049305 C-allele associate with improved marathon running performance in male Hispanic marathon runners?
Case-Control (n=1,430)
Yes
Does the AQP1 rs1049305 C-allele associate with improved marathon running performance in male Hispanic marathon runners?
The AQP1 rs1049305 C-allele is significantly associated with faster marathon running performance in Hispanic males, confirming previous genetic association findings.
AQP1 rs1049305 C-allele was associated with faster marathon performance in Hispanic males; extends prior genetic associations but remains hypothesis-generating.
Background Replication 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. Results The 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, I 2 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. Conclusion This 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.
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Rivera et al. (2020) conducted a case-control in Marathon running performance (n=1,430). AQP1 gene rs1049305 C-allele vs. AQP1 gene rs1049305 G-allele was evaluated on Association of AQP1 rs1049305 C-allele with marathon running performance level (meta-analysis) (OR 1.28, 95% CI 1.13-1.45, p=0.0001). The AQP1 gene rs1049305 C-allele was significantly associated with faster marathon running performance in Hispanic males, yielding a combined odds ratio of 1.28.
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