ArticlePloS one2014
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.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.BMC medical genetics · 2020Pooled it
- Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.Scientific reports · 2016Pooled it
- Triglyceride-glucose index and its additive interaction withAnnals of medicine · 2024Article
- A genome-wide association analysis reveals new pathogenic pathways in gout.Nature genetics · 2024Article
- Examining the Association of Rare Allelic Variants in Urate TransportersDisease markers · 2024Article
- SLC2A9 rs16890979 reduces uric acid absorption by kidney organoids.Frontiers in cell and developmental biology · 2023Article
- Article
- Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.Biomedicines · 2021Article
- Circulating microRNA alternations in primary hyperuricemia and gout.Arthritis research & therapy · 2021Article
- Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.International journal of molecular sciences · 2021Article
- Evaluation of the Influence of Genetic Variants ofJournal of clinical medicine · 2020Article
- Severe hyperuricemia in two children with acute gastroenteritis: answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.BMC medical genetics · 2020Article
- Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.Annals of translational medicine · 2020Article
- Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.Hereditas · 2020Article
- Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.Molecular genetics & genomic medicine · 2019Article
- Article
- The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.Arthritis research & therapy · 2019Article
- Long-term effects of the SLC2A9 G844A and SLC22A12 C246T variants on serum uric acid concentrations in children.BMC pediatrics · 2018Article
- A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.BMC pediatrics · 2018Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveUsing European descent Czech populations, we performed a study of SLC2A9 and SLC22A12 genes previously identified as being associated with serum uric acid concentrations and gout. This is the first study of the impact of non-synonymous allelic variants on the function of GLUT9 except for patients suffering from renal hypouricemia type 2.
methodsThe cohort consisted of 250 individuals (150 controls, 54 nonspecific hyperuricemics and 46 primary gout and/or hyperuricemia subjects). We analyzed 13 exons of SLC2A9 (GLUT9 variant 1 and GLUT9 variant 2) and 10 exons of SLC22A12 by PCR amplification and sequenced directly. Allelic variants were prepared and their urate uptake and subcellular localization were studied by Xenopus oocytes expression system. The functional studies were analyzed using the non-parametric Wilcoxon and Kruskall-Wallis tests; the association study used the Fisher exact test and linear regression approach.
resultsWe identified a total of 52 sequence variants (12 unpublished). Eight non-synonymous allelic variants were found only in SLC2A9: rs6820230, rs2276961, rs144196049, rs112404957, rs73225891, rs16890979, rs3733591 and rs2280205. None of these variants showed any significant difference in the expression of GLUT9 and in urate transport. In the association study, eight variants showed a possible association with hyperuricemia. However, seven of these were in introns and the one exon located variant, rs7932775, did not show a statistically significant association with serum uric acid concentration.
conclusionOur results did not confirm any effect of SLC22A12 and SLC2A9 variants on serum uric acid concentration. Our complex approach using association analysis together with functional and immunohistochemical characterization of non-synonymous allelic variants did not show any influence on expression, subcellular localization and urate uptake of GLUT9.
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