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Table 1 Summary of studies on the association of AQP1gene rs1049305 (C > G) variant in the 3′ untranslated region and endurance performance in humans

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
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