Trial reportScientific reports2016
The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.
Trial report in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 4 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Large-scale cross-ancestry genome-wide meta-analysis of serum urate.Nature communications · 2024Pooled it
- A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population.Human cell · 2020Pooled it
- Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.Annals of the rheumatic diseases · 2019Pooled it
- Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.Nature communications · 2018Pooled it
- A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance.CEN case reports · 2026Article
- The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.medRxiv : the preprint server for health sciences · 2026Article
- Investigation of the causal effects of hypertension, candesartan, lisinopril, and ramipril on gout.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- The role of the gut microbiota-uric acid metabolism axis in high-altitude hyperuricemia: dysregulation mechanisms, pathway associations and therapeutic perspectives.Frontiers in microbiology · 2026Review
- Deciphering genetic causes for sex differences in human health through drug metabolism and transporter genes.Nature communications · 2023Article
- Susceptibility genes of hyperuricemia and gout.Hereditas · 2022Review
- Differential gene expression of ABCG2, SLC22A12, IL-1β, and ALPK1 in peripheral blood leukocytes of primary gout patients with hyperuricemia and their comorbidities: a case-control study.European journal of medical research · 2022Article
- Hypouricemia and Urate Transporters.Biomedicines · 2022Review
- Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.Rheumatology (Oxford, England) · 2022Article
- New insight into the management of renal excretion and hyperuricemia: Potential therapeutic strategies with natural bioactive compounds.Frontiers in pharmacology · 2022Review
- The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.Journal of clinical laboratory analysis · 2021Article
- Dietary Acid Load Is Positively Associated with the Incidence of Hyperuricemia in Middle-Aged and Older Korean Adults: Findings from the Korean Genome and Epidemiology Study.International journal of environmental research and public health · 2021Article
- A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants ofBiomedicines · 2021Article
- From purines to purinergic signalling: molecular functions and human diseases.Signal transduction and targeted therapy · 2021Review
- Evaluation of the Influence of Genetic Variants ofJournal of clinical medicine · 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
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urate transporter 1 (URAT1/SLC22A12), a urate transporter gene, is a causative gene for renal hypouricemia type 1. Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. However, no case-control study has evaluated the relationship between gout and these two variants. Additionally, the effect size of these two variants on serum uric acid (SUA) levels remains to be clarified. Here, 1,993 primary gout patients and 4,902 health examination participants (3,305 males and 1,597 females) were genotyped with R90H and W258X. These URAT1 variants were not observed in any gout cases, while 174 subjects had the URAT1 variant in 2,499 health examination participants, respectively (P = 8.3 × 10(-46)). Moreover, in 4,902 health examination participants, the URAT1 nonfunctional variants significantly reduce the risk of hyperuricemia (P = 6.7 × 10(-19); risk ratio = 0.036 in males). Males, having 1 or 2 nonfunctional variants of URAT1, show a marked decrease of 2.19 or 5.42 mg/dl SUA, respectively. Similarly, females, having 1 or 2 nonfunctional variants, also evidence a decrease of 1.08 or 3.89 mg/dl SUA, respectively. We show that URAT1 nonfunctional variants are protective genetic factors for gout/hyperuricemia, and also demonstrated the sex-dependent effect size of these URAT1 variants on SUA (P for interaction = 1.5 × 10(-12)).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.