Table 1.
Demographic, anamnestic and biochemical characteristics of the normouricemic and hyperuricemic groups.
Figure 1.
Transport activity is expressed as % urate uptake in oocytes injected with 50 ng of cRNA encoding the wild-type or the particular analyzed allelic variants. The uptake of 100 µM [14C]urate in oocytes was measured after 30 minutes incubation. Our experiments showed similar urate transport activity of GLUT9 variant 1 wt and GLUT9 variant 2 wt. GLUT9 wt variants were set to 100%. The average of six measurements each with five oocytes in group is shown and error bars represent standard error. (A) GLUT9 variant 1 (B) GLUT9 variant 2.
Figure 2.
Immunocytochemical analysis of Xenopus oocytes.
Immunocytochemical analysis of Xenopus oocytes injected with 50 ng of cRNA encoding the wild-type (wt) or mutant GLUT9 performed with rabbit anti-SLC2A9 polyclonal antibody. The signal of protein is green while autofluorescent granules in cytoplasm of oocytes give a blue signal. (a) Non-injected oocytes, (b) oocytes injected with wt cRNA GLUT9 variant 1, (c) oocytes injected with wt cRNA GLUT9 variant 2, (d) GLUT9 variant 2 A17T, (e) GLUT9 variant 1 G25R, (f) GLUT9 variant 1 V169M, (g) GLUT9 variant 2 V140M, (h) GLUT9 variant 2 T246M, (i) GLUT9 variant 2 D252H, (j) GLUT9 variant 1 V282I, (k) GLUT9 variant 2 V253I, (l) GLUT9 variant 1 R294H, (m) GLUT9 variant 2 R265H, (n) GLUT9 variant 1 P350L, (o) GLUT9 variant 2 P321L. Scale bar represents 50 µm.
Figure 3.
Plot of -log10(p-value) for the analysis of association of studied allele variants with hyperuricemia/primary gout and serum uric acid concentration.
The dependent variable is the -log10(p-value) of either the Fisher exact test for genotype distribution comparison (top and middle figure) or the -log10(p-value) of the goodness-of-fit test in the linear regression model with and without the respective variant (bottom figure).
Table 2.
Genotype distribution, variant allele frequency and geometric mean of serum uric acid concentrations (µmol/l) for allelic variants that showed possible association with hyperuricemia (W wild type, M mutant).
Figure 4.
Alignment of the GLUT9 amino acids in the studied allelic variants with chimpanzee, horse, dog, mouse, rat and Xenopus paralogs.