Ontology highlight
ABSTRACT:
SUBMITTER: Pavelcova K
PROVIDER: S-EPMC7465009 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Pavelcova Katerina K Bohata Jana J Pavlikova Marketa M Bubenikova Eliska E Pavelka Karel K Stiburkova Blanka B
Journal of clinical medicine 20200804 8
Urate transporters, which are located in the kidneys, significantly affect the level of uric acid in the body. We looked at genetic variants of genes encoding the major reabsorption proteins GLUT9 (<i>SLC2A9</i>) and URAT1 (<i>SLC22A12</i>) and their association with hyperuricemia and gout. In a cohort of 250 individuals with primary hyperuricemia and gout, we used direct sequencing to examine the <i>SLC22A12</i> and <i>SLC2A9</i> genes. Identified variants were evaluated in relation to clinical ...[more]