Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease

Abstract

The aim of the study was to examine whether SLC22A12 gene mutations might be influenced in primary gout disease. We included 32 patients with diagnosis of primary gout disease and 100 healthy volunteers. DNA was purified from peripheral blood, and all exons of the SLC22A12 gene were sequenced. We did not find any mutations in the SLC22A12 gene in all of the patients, but found 5 polymorphisms in exons 1 (g.T258C, g.C246T), 2 (g.C1246T) and 8 (g.T8011C) and in intron 9 (g.C8577T). However, we have not found any significant differences in the frequency of the individual genotypes between patients with primary gout disease and control group. In addition, the polymorphisms were not associated with hyperuricemia in our patients with primary gout disease. There was no previously reported mutation/polymorphisms of SLC22A12 gene in Turkish population. Our study is the first one in Turkish population and suggests that there is no association between primary gout disease and SLC22A12 gene polymorphisms. Sequence changes in the promotor and intronic regions of SLC22A12 gene should be investigated further with larger case groups.

Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout

“…However, there was no statistically significant change in serum UA concentrations in mutant allele carriers. Collectively, no study has confirmed refuted URAT1 mutations in patient with gout and it is uncertain whether an enhanced tubular reabsorption of urate may cause hyperuricemia [35] , [36] .…”