ArticleScientific reports2019
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.Scientific reports · 2020Pooled it
- Impact of Renal Impairment on the Pharmacodynamic and Pharmacokinetic Profiles of Epaminurad, a Novel Uric Acid Transporter 1 Inhibitor.Clinical and translational science · 2025Trial
- 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
- Clinical Presentation, Genetic Testing, and Outcome of Congenital Nephrotic Syndrome in KwaZulu-Natal, South Africa.Nephron · 2026Article
- Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.Molecular diagnosis & therapy · 2024Article
- Dysuricemia.Biomedicines · 2023Review
- The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2.Chemico-biological interactions · 2023Article
- Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.European journal of pediatrics · 2022Article
- Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.Biomedicines · 2022Review
- Article
- Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.Biomedicines · 2021Article
- Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.Biomedicines · 2021Article
- Rational selection of a biomarker panel targeting unmet clinical needs in kidney injury.Clinical proteomics · 2021Review
- Function of Uric Acid Transporters and Their Inhibitors in Hyperuricaemia.Frontiers in pharmacology · 2021Article
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Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic diagnosis using two founder variants in primary screening. We selected all cases (N = 31) with extreme hypouricemia (<1.3 mg/dl) from a Korean urban cohort of 179,381 subjects without underlying conditions. WES and corresponding downstream analyses were performed for the discovery of rare causal variants for hypouricemia. Two known recessive variants within SLC22A12 (p.Trp258*, pArg90His) were identified in 24 out of 31 subjects (77.4%). In an independent cohort, we identified 50 individuals with hypouricemia and genotyped the p.Trp258* and p.Arg90His variants; 47 of the 50 (94%) hypouricemia cases were explained by only two mutations. Four novel coding variants in SLC22A12, p.Asn136Lys, p.Thr225Lys, p.Arg284Gln, and p.Glu429Lys, were additionally identified. In silico studies predict these as pathogenic variants. This is the first study to show the value of genetic diagnostic screening for hypouricemia in the clinical setting. Screening of just two ethnic-specific variants (p.Trp258* and p.Arg90His) identified 87.7% (71/81) of Korean patients with monogenic hypouricemia. Early genetic identification of constitutive hypouricemia may prevent acute kidney injury by avoidance of dehydration and excessive exercise.
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