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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