SynthesisAnnals of the rheumatic diseases2020
Subtype-specific gout susceptibility loci and enrichment of selection pressure on
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Annals of the rheumatic diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 3 of them syntheses that pooled it.
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40citing papers in PubMed, 3 pooled it
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40 citing papers in PubMed, 3 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Genome-Wide Association Study for eGFR in a Taiwanese Population.Clinical journal of the American Society of Nephrology : CJASN · 2022Pooled 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
- Superiority of Low-Dose Benzbromarone Add-On to Low-Dose Febuxostat Compared With Febuxostat Monotherapy in Gout With Combined-Type Hyperuricemia.Arthritis care & research · 2024Trial
- The efficacy and safety of benzbromarone and febuxostat in combined-type hyperuricemia: a single-center study.Clinical rheumatology · 2026Article
- Genome-wide association study identifies toll-like receptor four protein-mediated metabolic remodelling affecting gout pathogenesis.Journal of global health · 2026Observational
- Effects of ABCG2 dysfunction on hyperuricemia progression in premenopausal and postmenopausal women.Human cell · 2026Article
- SLC52A1 is a neofunctionalized primate urate transporter enabling intestinal urate secretion.The Journal of biological chemistry · 2026Article
- Effects of adding urinary alkalizer citrate mixture to febuxostat in gout patients with combined-type hyperuricemia and low urine pH: a prospective cohort study.Arthritis research & therapy · 2026Article
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- PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.Cancer cell international · 2025Article
- Low Alanine Aminotransferase Levels in Alcohol Consuming Male Subjects, Carriers of the Common ALDH2 Deficient Variant, ALDH2*2.Hepatology research : the official journal of the Japan Society of Hepatology · 2025Review
- Colocalization analysis reveals shared genetic loci contributing to gout and metabolite levels.Gout, urate, and crystal deposition disease · 2025Article
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- ALDH2 Ameliorates Acute Gouty Arthritis Through Inhibiting NLRP3 Inflammasome and Pyroptosis by Nrf2/ROS Pathway.Journal of inflammation research · 2025Article
- The genetics of gout: translation into clinical practice.Therapeutic advances in musculoskeletal disease · 2025Review
- Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.Communications biology · 2024Article
- Triglyceride-glucose index and its additive interaction withAnnals of medicine · 2024Article
- The Genetic Variants Influencing Hypertension Prevalence Based on the Risk of Insulin Resistance as Assessed Using the Metabolic Score for Insulin Resistance (METS-IR).International journal of molecular sciences · 2024Article
- Strong genetic effect on gout revealed by genetic risk score from meta-analysis of two genome-wide association studies.Human cell · 2024Article
Corrections and comments
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Authors and funding
55 authors at 20 institutions in 3 countries.
Akiyoshi Nakayama *Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Masahiro Nakatochi *Division of Department of Nursing, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID 0000-0002-1838-4837
Yusuke Kawamura *Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Ken Yamamoto *Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan.
Hirofumi Nakaoka *Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan.
Seiko ShimizuDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Toshihide HigashinoDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Teruhide KoyamaDepartment of Epidemiology for Community Health and Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Asahi HishidaDepartment of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Kiyonori KurikiLaboratory of Public Health, School of Food and Nutritional Sciences, University of Shizuoka, Shizuoka, Japan.
Miki WatanabeDepartment of Public Health, Nagoya City University Graduate School Medical Science, Nagoya, Japan.
Toru ShimizuMidorigaoka Hospital, Takatsuki, Japan.
Keiko OoyamaRyougoku East Gate Clinic, Tokyo, Japan.
Hiroshi OoyamaRyougoku East Gate Clinic, Tokyo, Japan.
Mitsuo NagaseNagase Clinic, Tokyo, Japan.
Yuji HidakaAkasaka Central Clinic, Tokyo, Japan.
Daisuke MatsuiDepartment of Epidemiology for Community Health and Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Takashi TamuraDepartment of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Takeshi NishiyamaDepartment of Public Health, Nagoya City University Graduate School Medical Science, Nagoya, Japan.
Chisato ShimanoeDepartment of Preventive Medicine, Faculty of Medicine, Saga University, Saga, Japan.
Sakurako Katsuura-KamanoDepartment of Preventive Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
Naoyuki TakashimaDepartment of Health Science, Shiga University of Medical Science, Otsu, Japan.
Yuya ShiraiDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Makoto KawaguchiDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Mikiya TakaoDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Ryo SugiyamaDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Yuzo TakadaFaculty of Medical Science, Teikyo University of Science, Tokyo, Japan.
Takahiro NakamuraLaboratory for Mathematics, National Defense Medical College, Tokorozawa, Japan.
Hiroshi NakashimaDepartment of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan.
Masashi TsunodaDepartment of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan.
Inaho DanjohGroup of Privacy Controls, Tohoku Medical Megabank Organization, Sendai, Japan.
Atsushi HozawaDepartment of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Kazuyoshi HosomichiDepartment of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa, Japan.
Yu ToyodaDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Yu KubotaDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Tappei TakadaDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Hiroshi SuzukiDepartment of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan.
Blanka StiburkovaDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Tanya J MajorDepartment of Biochemisty, University of Otago, Dunedin, New Zealand.
Tony R MerrimanDepartment of Biochemisty, University of Otago, Dunedin, New Zealand.
Nagato KuriyamaDepartment of Epidemiology for Community Health and Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Haruo MikamiCancer Prevention Center, Chiba Cancer Center Research Institute, Chiba, Japan.
Toshiro TakezakiDepartment of International Island and Community Medicine, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Keitaro MatsuoDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
Sadao SuzukiDepartment of Public Health, Nagoya City University Graduate School Medical Science, Nagoya, Japan.
Tatsuo HosoyaDivision of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kimiyoshi IchidaDivision of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Kenji WakaiDepartment of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Ituro InoueDivision of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.ORCID 0000-0002-0311-8472
Nariyoshi ShinomiyaDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan.
Hirotaka MatsuoDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan hmatsuo@ndmc.ac.jp.
Japan Gout Genomics Consortium (Japan Gout)
National Defense Medical College · JPNagoya University · JPUniversity of Tokyo Hospital · JPKyoto Prefectural University of Medicine · JPNagoya City University · JPJikei University School of Medicine · JPNational Institute of Genetics · JPThe University of Osaka · JPUniversity of Otago · NZAichi Cancer Center · JPCharles University · CZChiba Cancer Center · JPHokkaido University · JPJapan Industrial Safety and Health Association · JPKagoshima University · JPKanazawa University · JPKurume University Medical Center · JPKyoto University · JPNagase (Japan) · JPNational Defense Medical College Hospital · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesGenome-wide meta-analyses of clinically defined gout were performed to identify subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these loci was also conducted to investigate genetic risks characteristic of the Japanese population over the last 2000-3000 years.
methodsTwo genome-wide association studies (GWASs) of 3053 clinically defined gout cases and 4554 controls from Japanese males were performed using the Japonica Array and Illumina Array platforms. About 7.2 million single-nucleotide polymorphisms were meta-analysed after imputation. Patients were then divided into four clinical subtypes (the renal underexcretion type, renal overload type, combined type and normal type), and meta-analyses were conducted in the same manner. Selection pressure analyses using singleton density score were also performed on each subtype.
resultsIn addition to the eight loci we reported previously, two novel loci,
conclusionsOur findings on subtype GWAS meta-analyses and selection pressure analysis of gout will assist elucidation of the subtype-dependent molecular targets and evolutionary involvement among genotype, phenotype and subtype-specific tailor-made medicine/prevention of gout and hyperuricaemia.
Indexed as
Genome-Wide Association StudyAldehyde Dehydrogenase, MitochondrialATP Binding Cassette Transporter, Subfamily G, Member 2Case-Control StudiesGenetic LociGenetic Predisposition to DiseaseGenotypeGoutHumansIncidenceJapanMaleNeoplasm ProteinsPhenotypePrognosisReference ValuesABCG2 protein, humanAldehyde Dehydrogenase, MitochondrialALDH2 protein, humanATP Binding Cassette Transporter, Subfamily G, Member 2Neoplasm Proteinsgenome-wide association study (GWAS)gout/hyperuricaemiaJapaneseselection pressure analysissubtype specific locus
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