SynthesisHuman molecular genetics2011
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
Synthesis in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 4 of them syntheses that pooled it.
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Who cites it
69 citing papers in PubMed, 4 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.Human cell · 2021Pooled it
- Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.Annals of the rheumatic diseases · 2019Pooled it
- Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.Communications biology · 2019Pooled it
- Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population.Acta pharmacologica Sinica · 2014Pooled it
- Safety and Efficacy of Benzbromarone and Febuxostat in Hyperuricemia Patients with Chronic Kidney Disease: A Prospective Pilot Study.Clinical and experimental nephrology · 2018Trial
- ABCG2 transporter: Structural and functional associations with gout (Review).International journal of molecular medicine · 2026Review
- Mechanism of Sodium-Glucose Cotransporter-2 Inhibitors for Uricosuria.Electrolyte & blood pressure : E & BP · 2025Review
- Association of Hyperuricemia with Cardiovascular Risk Factors and Cardiac Structural Changes in Patients Undergoing Maintenance Hemodialysis in Southwest China.Medical science monitor : international medical journal of experimental and clinical research · 2025Article
- SGLT2 Inhibitors and Uric Acid Homeostasis.Gout, urate, and crystal deposition disease · 2024Article
- Exploring the Multifaceted Nexus of Uric Acid and Health: A Review of Recent Studies on Diverse Diseases.Biomolecules · 2023Review
- Polygenic risk score trend and new variants on chromosome 1 are associated with male gout in genome-wide association study.Arthritis research & therapy · 2022Article
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.Frontiers in cell and developmental biology · 2022Review
- New insight into the management of renal excretion and hyperuricemia: Potential therapeutic strategies with natural bioactive compounds.Frontiers in pharmacology · 2022Review
- Article
- Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus.Nature communications · 2021Article
- Immunomodulation-A Molecular Solution to Treating Patients with Severe Bladder Pain Syndrome?European urology open science · 2021Article
- An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.Genome medicine · 2021Article
- Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.Journal of human genetics · 2021Article
- An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.medRxiv : the preprint server for health sciences · 2020Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 13 institutions in 2 countries.
Funding
Abstract
Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using (14)C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 × 10(-8)): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 × 10(-9)), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 × 10(-32)) and SLC22A12 (P= 2.1 × 10(-10)). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta -1.19 mg/dl, P= 2.7 × 10(-16)). (14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants.
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Registered trials
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.