From: Association Between aquaporin-1 and Endurance Performance: A Systematic Review
Source (ref no.) | Study design | Purpose | Exclusion criteria | Subjects | Study sample | DNA source/genotyping method | Genotype* frequencies | Allele frequencies | Main finding | Odds ratio | 95% confidence interval | p value | |||
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28 | Observation during a marathon run, using a genetic epidemiology association model with a case-controls design | Association between a single-nucleotide polymorphism (SNP), restriction site (rs) 1049305 (C > G) in the 3′ UTR of the AQP1 gene and endurance performance level | Known history of cardiovascular, respiratory, arthritis, metabolic disease or on medication. Incident that negatively affected performance during the race (e.g., significant injury) | N = 784. Adult Hispanic marathon runners, biologically unrelated recruited between 2004 and 2008. All were informed and consented to be part of the study. There were no replications | Cases (n = 396) Finishers in the top third percentile of respective age and gender | Controls (n = 388) Finishers in the lowest third percentile of respective age and gender | Peripheral blood leucocytes tetra-primer Amplification Refractory Mutation System PCR procedure followed by gel electrophoresis | Cases n = 396 CC = 59 (0.15) GC = 167 (0.42 GG = 170 (0.43) | Controls n = 388 CC = 39 (0.10) GC = 151 (0.39) GG = 198 (0.51) | Cases n (%) C = 285 (0.36) G = 507 (0.64) | Controls n (%) C = 229 (0.30) G = 547 (0.70) | Fifty- seven percent (57%) of the cases (fast runners) were carriers of the C-allele versus 49% for the controls (slow runners) | 1.35 | 1.08–1.67 | ≤ 0.005 |
X2 = 7.56, df = 1, p = 0.005 | |||||||||||||||
Hardy-Weinberg equilibrium | |||||||||||||||
X2 = 2.84, df = 2, p = 0.09 | X2 = 1.62, df = 2, p = 0.21 | ||||||||||||||
*X2 = 6.94, df = 2, p = 0.03 | |||||||||||||||
29 | Observation during a 10-km run, using a Genetic Epidemiology association model with allele carrier vs. no-carrier design | Explored the association between a SNP, rs 1049305 (C > G) in the 3′ UTR region of the AQP1 gene and acute body fluid loss as well as endurance performance | Same as Martinez et al [28] | N = 91 Adult Hispanic males, recreational long-distance runners, biologically unrelated, were informed and consented to be part of the study during the Maratón Pacifico 10-km run | C-allele carriers, n = 50 | C-allele non-carriers, n = 51 | Peripheral blood leucocytes tetra-primer Amplification Refractory Mutation System PCR procedure followed by gel electrophoresis | CC n (%) = 10 (0.11) CG n (%) = 40 (0.44) GG n (%) = 41 (0.45) | The unrelated t test revealed that the C-allele carriers ran faster (approximately 16.12 km/h) than C-allele non-carriers (approximately 13.9 km/h) during a 10-km race. | ||||||
Hardy-Weinberg equilibrium X2 = 2.84, df = 2, p = 0.09 | |||||||||||||||
Genotype by C-allele status | CC or CG: mean = 37 ± 2 min GG: mean = 43 ± 3 min | 35–39 min 40–46 min | ≤ 0.05 | ||||||||||||
Carriers CC+CG n = 50 | Non-carriers GG n = 41 | ||||||||||||||
30 | Observation during an Ironman event, using a Genetic Epidemiology association model with allele carrier vs. no-carrier design | Tested the association of the rs1049305 (C > G) variant within the 3′ UTR of the AQP gene, with changes in body weight, post-race serum sodium concentration and performance in Ironman triathletes | No major health concerns | N = 476 of 504, consenting South African, Caucasian male, triathletes who completed either the 2000, 2001, and/or 2006 South African Ironman Triathlons | C-allele carriers, n = 284 | C-allele non-carriers, n = 191 | Peripheral blood leucocytes | GG n (%) = 205 (0.41) CG n (%) = 217 (0.43) CC n (%) = 82 (0.16) | C, n (%) = 381 (0.38) G, n (%) = 627 (0.62) | The AQP1 rs1049305 (C > G) variant was associated with running performance. Triathlete carriers of the C-allele completed the 42.2-km run stage faster than triathletes’ non-carriers of the C-allele. | |||||
Hardy-Weinberg equilibrium p = 0.059 | |||||||||||||||
Genotype by C-allele status | CC or CG: mean = 286 ± 49 min GG: mean = 296 ± 47 min | 280–292 min 289–303 min | 0.032 | ||||||||||||
Carriers CC+CG n = 299 | Non-carriers GG n = 20 |