ArticleArthritis research & therapy2019
The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.
Article in Arthritis research & therapy, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- A systematic review of single nucleotide polymorphisms affecting allopurinol pharmacokinetics and serum uric acid level.Pharmacogenomics · 2024Pooled it
- The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.BMC medical genetics · 2020Pooled it
- ABCG2 transporter: Structural and functional associations with gout (Review).International journal of molecular medicine · 2026Review
- Serum uric acid in pediatric metabolic assessment: the scientific rationale for routine screening and the urgent need for age- and sex-specific diagnostic thresholds.Frontiers in nephrology · 2026Article
- Pediatric hyperuricemia: genetic basis, metabolic mechanisms, and clinical implications.Frontiers in endocrinology · 2026Review
- Genetic variants associated with gout identified through a genome-wide study in the UK biobank (N = 150 542).Human molecular genetics · 2025Article
- Clinical Practice Consensus Statement 2025: Management of Hyperuricemia and Gout in Adolescents.International journal of rheumatic diseases · 2025Article
- Targeting uric acid: a promising intervention against oxidative stress and neuroinflammation in neurodegenerative diseases.Cell communication and signaling : CCS · 2025Review
- Triglyceride-glucose index and its additive interaction withAnnals of medicine · 2024Article
- Structural View of Cryo-Electron Microscopy-Determined ATP-Binding Cassette Transporters in Human Multidrug Resistance.Biomolecules · 2024Review
- Article
- Examining the Association of Rare Allelic Variants in Urate TransportersDisease markers · 2024Article
- Target Screen of Anti-Hyperuricemia Compounds from Cortex Fraxini In Vivo Based on ABCG2 and Bioaffinity Ultrafiltration Mass Spectrometry.Molecules (Basel, Switzerland) · 2023Article
- Expression, Function and Trafficking of the Human ABCG2 Multidrug Transporter Containing Mutations in an Unstructured Cytoplasmic Loop.Membranes · 2023Article
- Genetic polymorphisms and decreased protein expression of ABCG2 urate transporters are associated with susceptibility to gout, disease severity and renal-overload hyperuricemia.Clinical and experimental medicine · 2023Article
- Dysuricemia-A New Concept Encompassing Hyperuricemia and Hypouricemia.Biomedicines · 2023Review
- Association between glucokinase regulator gene polymorphisms and serum uric acid levels in Taiwanese adolescents.Scientific reports · 2022Article
- Article
- Association and interaction between dietary patterns and gene polymorphisms in Liangshan residents with hyperuricemia.Scientific reports · 2022Article
- Examining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants.Pharmacogenomics and personalized medicine · 2022Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundABCG2 is a high-capacity urate transporter that plays a crucial role in renal urate overload and extra-renal urate underexcretion. Previous studies have suggested an association between hyperuricemia and gout susceptibility relative to dysfunctional ABCG2 variants, with rs2231142 (Q141K) being the most common. In this study, we analyzed the ABCG2 gene in a hyperuricemia and gout cohort focusing on patients with pediatric-onset, i.e., before 18 years of age.
methodThe cohort was recruited from the Czech Republic (n = 234) and consisted of 58 primary hyperuricemia and 176 gout patients, with a focus on pediatric-onset patients (n = 31, 17 hyperuricemia/14 gouts); 115 normouricemic controls were used for comparison. We amplified, sequenced, and analyzed 15 ABCG2 exons. The chi-square goodness-of-fit test was used to compare minor allele frequencies (MAF), and the log-rank test was used to compare empirical distribution functions.
resultsIn the pediatric-onset cohort, two common (p.V12M, p.Q141K) and three very rare (p.K360del, p.T421A, p.T434M) allelic ABCG2 variants were detected. The MAF of p.Q141K was 38.7% compared to adult-onset MAF 21.2% (OR = 2.4, P = 0.005), to the normouricemic controls cohort MAF 8.5% (OR = 6.8, P < 0.0001), and to the European population MAF 9.4% (OR = 5.7, P < 0.0001). The MAF was greatly elevated not only among pediatric-onset gout patients (42.9%) but also among patients with hyperuricemia (35.3%). Most (74%) of the pediatric-onset patients had affected family members (61% were first-degree relatives).
conclusionOur results show that genetic factors affecting ABCG2 function should be routinely considered in a hyperuricemia/gout diagnosis, especially in pediatric-onset patients. Genotyping of ABCG2 is essential for risk estimation of gout/hyperuricemia in patients with very early-onset and/or a family history.
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