SynthesisAnnals of the rheumatic diseases2017
GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
Open access · hybridAbstract readMeta-AnalysisValidation Study
In one paragraph
Synthesis in Annals of the rheumatic diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 7 of them syntheses that pooled it.
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88citing papers in PubMed, 7 pooled it
8.7field-weighted citation impact, top 2% of its field
What it found
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The trial behind it
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Who cites it
88 citing papers in PubMed, 7 syntheses or guidelines pooled it, 171 citations in OpenAlex.
- Single-nucleotide polymorphisms link gout with health-related lifestyle factors in Korean cohorts.PloS one · 2023Pooled it
- 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
- The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.BMC medical genetics · 2020Pooled it
- Subtype-specific gout susceptibility loci and enrichment of selection pressure onAnnals of the rheumatic diseases · 2020Pooled 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
- Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.Communications biology · 2019Pooled it
- DNA methylation loci in placenta associated with birthweight and expression of genes relevant for early development and adult diseases.Clinical epigenetics · 2020Trial
- Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.Molecular genetics & genomic medicine · 2019Trial
- ABCG2 transporter: Structural and functional associations with gout (Review).International journal of molecular medicine · 2026Review
- Effects of ABCG2 dysfunction on hyperuricemia progression in premenopausal and postmenopausal women.Human cell · 2026Article
- Pediatric hyperuricemia: genetic basis, metabolic mechanisms, and clinical implications.Frontiers in endocrinology · 2026Review
- Using Multi-Omics Methods to Understand Gouty Arthritis.Current rheumatology reviews · 2026Review
- Multidimensional mechanisms of natural products in modulating metabolic dysfunction-associated kidney disease: recent advances and future perspectives.Frontiers in pharmacology · 2026Review
- Advances in post-translational and epigenetic modification of hyperuricemia-to-gout progression: mechanisms and therapeutic targets.Frontiers in cell and developmental biology · 2026Review
- NIPAL1 as a prognostic biomarker associated with pancreatic adenocarcinoma progression and immune infiltration.BMC cancer · 2025Article
- Effects of Genetic Risk and Lifestyle Habits on Gout: A Korean Cohort Study.Journal of Korean medical science · 2025Article
- Potential associations of selected polymorphic genetic variants with COVID-19 disease susceptibility and severity.PloS one · 2025Article
- Tigulixostat Alleviates Hyperuricemic Nephropathy by Promoting M2 Macrophage Polarization.Journal of inflammation research · 2025Article
- Triglyceride-glucose index and its additive interaction withAnnals of medicine · 2024Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
48 authors at 20 institutions in 4 countries.
Akiyoshi NakayamaDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Hirofumi NakaokaDivision of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Shizuoka, Japan.
Ken YamamotoDepartment of Medical Chemistry, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Masayuki SakiyamaDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Amara ShaukatDepartment of Biochemisty, University of Otago, Dunedin, New Zealand.
Yu ToyodaDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Yukinori OkadaDepartment of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan.
Takahiro NakamuraLaboratory for Mathematics, National Defense Medical College, Tokorozawa, Saitama, Japan.
Tappei TakadaDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Katsuhisa InoueDepartment of Biopharmaceutics, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan.
Tomoya YasujimaDepartment of Biopharmaceutics, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Aichi, Japan.
Hiroaki YuasaDepartment of Biopharmaceutics, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Aichi, Japan.
Yuko ShirahamaDepartment of Medical Chemistry, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Hiroshi NakashimaDepartment of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Saitama, Japan.
Seiko ShimizuDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Toshihide HigashinoDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Yusuke KawamuraDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Hiraku OgataDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Makoto KawaguchiDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Yasuyuki OhkawaDivision of Transcriptomics, Research Center for Transomics Medicine, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Inaho DanjohDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan.
Atsumi TokumasuRyougoku East Gate Clinic, Tokyo, Japan.
Keiko OoyamaRyougoku East Gate Clinic, Tokyo, Japan.
Toshimitsu ItoDepartment of Internal Medicine, Self-Defense Forces Central Hospital, Tokyo, Japan.
Takaaki KondoProgram in Radiological and Medical Laboratory Sciences, Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Kenji WakaiDepartment of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Blanka StiburkovaFirst Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic.
Karel PavelkaInstitute of Rheumatology, Prague, Czech Republic.
Lisa K StampDepartment of Medicine, University of Otago, Christchurch, New Zealand.
Nicola DalbethDepartment of Medicine, University of Auckland, Grafton, Auckland, New Zealand.
Eurogout Consortium
Yutaka SakuraiDepartment of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Saitama, Japan.
Hiroshi SuzukiDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Makoto HosoyamadaDepartment of Human Physiology and Pathology, Faculty of Pharma-Sciences, Teikyo University, Tokyo, Japan.
Shin FujimoriDepartment of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
Takashi YokooDivision of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Tatsuo HosoyaDivision of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Ituro InoueDivision of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Shizuoka, Japan.
Atsushi TakahashiLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan.
Michiaki KuboLaboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Kanagawa, Japan.
Hiroshi OoyamaRyougoku East Gate Clinic, Tokyo, Japan.
Toru ShimizuMidorigaoka Hospital, Takatsuki, Osaka, Japan.
Kimiyoshi IchidaDepartment of Pathophysiology and Therapy in Chronic Kidney Disease, Jikei University School of Medicine, Tokyo, Japan.
Nariyoshi ShinomiyaDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Tony R MerrimanDepartment of Biochemisty, University of Otago, Dunedin, New Zealand.
Hirotaka MatsuoDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
Eurogout Consortium
National Defense Medical College · JPGroupe d'Analyse et de Théorie Economique Lyon St Etienne · FRJikei University School of Medicine · JPUniversity of Otago · NZUniversity of Tokyo Hospital · JPNagoya City University · JPNagoya University · JPNational Institute of Genetics · JPRIKEN Center for Integrative Medical Sciences · JPTeikyo University · JPGeneral University Hospital in Prague · CZInstitute of Rheumatology · CZKurume University · JPKurume University Medical Center · JPKyushu University · JPMidorigaoka Hospital · JPNational Cerebral and Cardiovascular Center · JPSelf-Defense Forces Central Hospital · JPTohoku Medical Megabank Organization · JPTokyo Medical and Dental University · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveA genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific.
methodsPutative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study.
resultsIn addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10
conclusionsOur findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia.
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyAdultAgedAsian PeopleCase-Control StudiesCation Transport ProteinsCell Cycle ProteinsDNA-Binding ProteinsGenetic LociGenotypeGoutHistonesHumansJapanMaleCation Transport ProteinsCell Cycle ProteinsDNA-Binding ProteinsHistonesNIPAL1 protein, humanOrganic Anion TransportersOrganic Cation Transport ProteinsProteinsSHLD2 protein, humanSLC17A1 protein, humanSLC22A12 protein, humanSodium-Phosphate Cotransporter Proteins, Type IArthritisGene PolymorphismGout
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