ArticleNature communications2018
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.
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In one paragraph
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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32citing papers in PubMed, 2 pooled it
5.6field-weighted citation impact, top 3% of its field
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study.Nutrients · 2022Pooled it
- Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.Scientific reports · 2020Pooled it
- Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12.The Journal of clinical investigation · 2025Trial
- Comprehensive gene heritability estimation reveals the genetic architecture of rare coding variants underlying complex traits.bioRxiv : the preprint server for biology · 2025Article
- Unraveling the impact of miRNAs on gouty arthritis: diagnostic significance and therapeutic opportunities.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- The genetics of gout: translation into clinical practice.Therapeutic advances in musculoskeletal disease · 2025Review
- SGLT2 Inhibitors and Uric Acid Homeostasis.Gout, urate, and crystal deposition disease · 2024Article
- Establishment of Polydopamine-Modified HK-2 Cell Membrane Chromatography and Screening of Active Components fromInternational journal of molecular sciences · 2024Article
- Whole-genome sequencing reveals rare variants associated with gout in Taiwanese males.Frontiers in genetics · 2024Article
- Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.Nature communications · 2023Article
- Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics.Advanced genetics (Hoboken, N.J.) · 2022Article
- PEG35 as a Preconditioning Agent against Hypoxia/Reoxygenation Injury.International journal of molecular sciences · 2022Article
- Role of microRNA alternation in the pathogenesis of gouty arthritis.Frontiers in endocrinology · 2022Review
- Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.Frontiers in cell and developmental biology · 2022Review
- Article
- Rare protein-coding variants implicate genes involved in risk of suicide death.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2021Article
- Urate transport in health and disease.Best practice & research. Clinical rheumatology · 2021Review
- Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.Rheumatology (Oxford, England) · 2021Article
- Chenodeoxycholic Acid Has Non-Thermogenic, Mitodynamic Anti-Obesity Effects in an In Vitro CRISPR/Cas9 Model of Bile Acid Receptor TGR5 Knockdown.International journal of molecular sciences · 2021Article
- Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.Biomedicines · 2021Article
Corrections and comments
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Authors and funding
35 authors at 16 institutions in 5 countries.
Adrienne TinDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA. atin1@jhu.edu.ORCID http://orcid.org/0000-0002-4207-5866
Yong LiInstitute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, 79106, Germany.ORCID http://orcid.org/0000-0003-2651-8791
Jennifer A BrodyCardiovascular Health Research Unit, DoM, University of Washington, Seattle, WA, 98195, USA.ORCID http://orcid.org/0000-0001-8509-148X
Teresa NutileInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso" - CNR, Naples, 80131, Italy.ORCID http://orcid.org/0000-0001-7062-8352
Audrey Y ChuPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA, 01702, USA.
Jennifer E HuffmanPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA, 01702, USA.
Qiong YangFramingham Heart Study, National Heart, Lung, and Blood Institute, Framingham, MA, 01702, USA.ORCID http://orcid.org/0000-0002-3658-1375
Ming-Huei ChenPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA, 01702, USA.
Cassianne Robinson-CohenDepartment of Nephrology, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Aurélien MacéDepartment of Computational Biology, University of Lausanne, Lausanne, 1015, Switzerland.
Jun LiuDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3000 CA, Netherlands.ORCID http://orcid.org/0000-0001-5288-3042
Ayşe DemirkanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3000 CA, Netherlands.
Rossella SoriceInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso" - CNR, Naples, 80131, Italy.
Sanaz SedaghatDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3000 CA, Netherlands.
Melody SwenDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA.
Bing YuUTHealth School of Public Health, Houston, Texas, 77030, USA.
Sahar GhasemiInstitute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
Alexanda TeumerInstitute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.ORCID http://orcid.org/0000-0002-8309-094X
Peter VollenweiderDepartment of Internal Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, 1011, Switzerland.
Marina CiulloInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso" - CNR, Naples, 80131, Italy.
Meng LiDepartment of Physiology, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
André G UitterlindenDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, 3000 CA, The Netherlands.
Robert KraaijDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, 3000 CA, The Netherlands.
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3000 CA, Netherlands.
Jeroen van RooijDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, 3000 CA, The Netherlands.
Zoltán KutalikInstitute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, 1010, Switzerland.ORCID http://orcid.org/0000-0001-8285-7523
Abbas DehghanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3000 CA, Netherlands.
Barbara McKnightCardiovascular Health Research Unit, DoM, University of Washington, Seattle, WA, 98195, USA.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3000 CA, Netherlands.
Alanna MorrisonUTHealth School of Public Health, Houston, Texas, 77030, USA.
Bruce M PsatyCardiovascular Health Research Unit, DoM, University of Washington, Seattle, WA, 98195, USA.
Eric BoerwinkleUTHealth School of Public Health, Houston, Texas, 77030, USA.
Caroline S FoxPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA, 01702, USA.
Owen M WoodwardDepartment of Physiology, University of Maryland School of Medicine, Baltimore, MD, 21201, USA. owoodward@som.umaryland.edu.ORCID http://orcid.org/0000-0001-9514-2180
Anna KöttgenDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA. anna.koettgen@uniklinik-freiburg.de.ORCID http://orcid.org/0000-0002-4671-3714
Erasmus MC · NLJohns Hopkins University · USNational Heart Lung and Blood Institute · USUniversity of Texas Health Science Center at Dallas · USUniversity of Washington · USIstituto Neurologico Mediterraneo · ITLeiden University · NLUniversitätsmedizin Greifswald · DEUniversity Hospital of Lausanne · CHUniversity of Maryland, Baltimore · USBoston University · USInstitute of Genetics and Biophysics · ITUniversity of Freiburg · DEUniversity of Lausanne · CHVA Boston Healthcare System · USVanderbilt University Medical Center · US
Funding
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MCHS research resources for the cardiovascular health of older adultsU01HL130114 · NHLBI · UNIVERSITY OF WASHINGTON · PI BURKE, GREGORY L, KRONMAL, RICHARD A · 2016 to 2019
$6.6MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MMolecular Mechanisms of Uric Acid HomeostasisR01DK114091 · NIDDK · UNIVERSITY OF MARYLAND BALTIMORE · PI WOODWARD, OWEN M · 2017 to 2020
$1.4MNHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIDDK NIH HHS R01 DK114091
Abstract
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exome sequencing association studies of serum urate and kidney function among ≤19,517 European ancestry and African-American individuals. We identify aggregate associations of low-frequency damaging variants in the urate transporters SLC22A12 (URAT1; p = 1.3 × 10
Indexed as
ExomeGenetic Predisposition to DiseaseGlucose Transport Proteins, FacilitativeHumansKidney Function TestsMeta-Analysis as TopicOrganic Anion TransportersOrganic Cation Transport ProteinsProtein Structure, SecondaryUric AcidGlucose Transport Proteins, FacilitativeOrganic Anion TransportersOrganic Cation Transport ProteinsSLC22A12 protein, humanSLC2A9 protein, humanUric Acid
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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.