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Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout

Publication at Faculty of Mathematics and Physics, First Faculty of Medicine |
2020

Abstract

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 (SLC2A9) and URAT1 (SLC22A12) and their association with hyperuricemia and gout.

In a cohort of 250 individuals with primary hyperuricemia and gout, we used direct sequencing to examine theSLC22A12andSLC2A9genes. Identified variants were evaluated in relation to clinical data, biochemical parameters, metabolic syndrome criteria, and our previous analysis of the major secretory urate transporter ABCG2.

We detected seven nonsynonymous variants ofSLC2A9. There were no nonsynonymous variants ofSLC22A12.

Eleven variants ofSLC2A9and two variants ofSLC22A12were significantly more common in our cohort than in the European population (p= 0), while variants p.V282I and c.1002+78A>G had a low frequency in our cohort (p= 0). Since the association between variants and the level of uric acid was not demonstrated, the influence of variants on the development of hyperuricemia and gout should be evaluated with caution.

However, consistent with the findings of other studies, our data suggest that p.V282I and c.1002+78A>G (SLC2A9) reduce the risk of gout, while p.N82N (SLC22A12) increases the risk.