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Table 2 Summary of study evaluating the influence of the rs1049305 (C > G) in the AQP1 gene expression, in vitro

From: Association Between aquaporin-1 and Endurance Performance: A Systematic Review

Source (ref no.) Study design Purpose Exclusion criteria Subjects DNA source/genotyping method In vitro study/gene expression Genotype frequencies Allele frequencies Analysis Main finding p value
38 Prospective study that collected data from gastroenterology and hepatology patients with cirrhosis and ascites To investigate the distribution of single-nucleotide polymorphisms of AQP1 rs1049305 (C > G) and AQP2: rs3741559 (A > G) and rs467323 (C > T) and to analyze their relationship with dilutional hyponatremia. Also, evaluated the possible influence of the rs1049305 (C > G) in the AQP1 gene expression Exclusion criteria were as follows: history of clinical signs of heart disease, malignant disease, diabetes insipidus, arterial hypertension, or parenchymal renal failure, treatment with corticosteroids, lithium, cyclooxygenase inhibitors, or other nephrotoxic drugs 30 days prior to the study N = 100, Caucasian (Santander, Spain) cirrhotic patients with ascites Peripheral blood leucocytes
genotyping was performed using the Custom Taqman SNP Genotyping Assays
Luciferase assays in vitro to evaluate influence of rs1049305 (C > G) in gene expression CC n (%) = 15 (0.15)
CG n (%) = 49 (0.49)
GG n (%) = 36 (0.36)
Hardy-Weinberg equilibrium
p = 0.80
C n (%) = 79 (0.305)
G n (%) = 121 (0.605)
Luciferase assays were evaluated using a non-parametric Mann–Whitney test (two-tailed) The plasmid corresponding to the C-allele produced a luciferase activity of about 60% of the vector. The C > G change revealed a further 12% decrease in the luciferase
activity
0.039