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

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