{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T17:22:40Z","timestamp":1785864160193,"version":"3.56.0"},"reference-count":80,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100011531","name":"University of Alabama","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011531","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Rheumatology"],"published-print":{"date-parts":[[2021,12]]},"DOI":"10.1016\/j.berh.2021.101721","type":"journal-article","created":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:53:16Z","timestamp":1635727996000},"page":"101721","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["The genetic basis of urate control and gout: Insights into molecular pathogenesis from follow-up study of genome-wide association study loci"],"prefix":"10.1016","volume":"35","author":[{"given":"Megan P.","family":"Leask","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony R.","family":"Merriman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.berh.2021.101721_bib1","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/hmg\/ddaa013","article-title":"Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control","volume":"29","author":"Boocock","year":"2020","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.berh.2021.101721_bib2","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/s42003-019-0339-0","article-title":"Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals","volume":"2","author":"Nakatochi","year":"2019","journal-title":"Commun Biol"},{"key":"10.1016\/j.berh.2021.101721_bib3","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1038\/s41588-019-0504-x","article-title":"Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels","volume":"51","author":"Tin","year":"2019","journal-title":"Nat Genet"},{"key":"10.1016\/j.berh.2021.101721_bib4","doi-asserted-by":"crossref","first-page":"7041","DOI":"10.1038\/ncomms8041","article-title":"Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese","volume":"6","author":"Li","year":"2015","journal-title":"Nat Commun"},{"key":"10.1016\/j.berh.2021.101721_bib5","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1136\/annrheumdis-2016-209632","article-title":"GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes","volume":"76","author":"Nakayama","year":"2017","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib6","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1136\/annrheumdis-2014-205877","article-title":"Twenty-eight loci that influence serum urate levels: analysis of association with gout","volume":"75","author":"Phipps-Green","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib7","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/ng.3211","article-title":"LD Score regression distinguishes confounding from polygenicity in genome-wide association studies","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.berh.2021.101721_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1002725","article-title":"No causal effects of serum urate levels on the risk of chronic kidney disease: a Mendelian randomization study","volume":"16","author":"Jordan","year":"2019","journal-title":"PLoS Med"},{"key":"10.1016\/j.berh.2021.101721_bib9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0039321","article-title":"Serum uric acid and adiposity: deciphering causality using a bidirectional Mendelian randomization approach","volume":"7","author":"Lyngdoh","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.berh.2021.101721_bib10","doi-asserted-by":"crossref","DOI":"10.1002\/art.41779","article-title":"Assessing the causal relationships between insulin resistance and hyperuricemia and gout using bidirectional Mendelian randomization","author":"McCormick","year":"2021","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.berh.2021.101721_bib11","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1161\/CIRCGENETICS.114.000556","article-title":"Mendelian randomization provides no evidence for a causal role of serum urate in increasing serum triglyceride levels","volume":"7","author":"Rasheed","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.berh.2021.101721_bib12","doi-asserted-by":"crossref","first-page":"j2376","DOI":"10.1136\/bmj.j2376","article-title":"Serum uric acid levels and multiple health outcomes: umbrella review of evidence from observational studies, randomised controlled trials and Mendelian randomisation studies","volume":"357","author":"Li","year":"2017","journal-title":"BMJ"},{"key":"10.1016\/j.berh.2021.101721_bib13","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1038\/ncomms1756","article-title":"Decreased extra-renal urate excretion is a common cause of hyperuricemia","volume":"3","author":"Ichida","year":"2012","journal-title":"Nat Commun"},{"key":"10.1016\/j.berh.2021.101721_bib14","doi-asserted-by":"crossref","first-page":"129142","DOI":"10.2147\/PGPM.S105854","article-title":"ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches","volume":"10","author":"Cleophas","year":"2017","journal-title":"Pharmacogenomics Personalized Med"},{"key":"10.1016\/j.berh.2021.101721_bib15","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nature24277","article-title":"Genetic effects on gene expression across human tissues","volume":"550","author":"Battle","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.berh.2021.101721_bib16","first-page":"3964","article-title":"A\u00a0non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression","volume":"27","author":"Ketharnathan","year":"2018","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.berh.2021.101721_bib17","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.ajhg.2018.07.004","article-title":"An eQTL landscape of kidney tissue in human nephrotic syndrome","volume":"103","author":"Gillies","year":"2018","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.berh.2021.101721_bib18","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/s41588-019-0407-x","article-title":"A\u00a0catalog of genetic loci associated with kidney function from analyses of a million individuals","volume":"51","author":"Wuttke","year":"2019","journal-title":"Nat Genet"},{"key":"10.1016\/j.berh.2021.101721_bib19","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000504","article-title":"Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations","volume":"5","author":"Kolz","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1016\/j.berh.2021.101721_bib20","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1254\/jphs.10228SC","article-title":"Functional analysis of human sodium-phosphate transporter 4 (NPT4\/SLC17A3) polymorphisms","volume":"115","author":"Jutabha","year":"2011","journal-title":"J\u00a0Pharmacol Sci"},{"key":"10.1016\/j.berh.2021.101721_bib21","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1136\/jmg.39.12.882","article-title":"Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy","volume":"39","author":"Hart","year":"2002","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.berh.2021.101721_bib22","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2543","article-title":"Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing","volume":"45","author":"Kirby","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.berh.2021.101721_bib23","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/humu.21610","article-title":"Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia","volume":"33","author":"Kraus","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.berh.2021.101721_bib24","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/s41572-019-0109-9","article-title":"Autosomal dominant tubulointerstitial kidney disease","volume":"5","author":"Devuyst","year":"2019","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.berh.2021.101721_bib25","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004722","article-title":"Integrating functional data to prioritize causal variants in statistical fine-mapping studies","volume":"10","author":"Kichaev","year":"2014","journal-title":"PLoS Genet"},{"key":"10.1016\/j.berh.2021.101721_bib26","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/1471-2156-15-81","article-title":"Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations","volume":"15","author":"Scharpf","year":"2014","journal-title":"BMC Genet"},{"key":"10.1016\/j.berh.2021.101721_bib27","doi-asserted-by":"crossref","first-page":"5061","DOI":"10.1093\/hmg\/ddu227","article-title":"Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid","volume":"23","author":"Wei","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.berh.2021.101721_bib28","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1038\/nrg3747","article-title":"Detecting epistasis in human complex traits","volume":"15","author":"Wei","year":"2014","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.berh.2021.101721_bib29","doi-asserted-by":"crossref","DOI":"10.3899\/jrheum.201684","article-title":"Aotearoa New Zealand Maori and Pacific population-specific gout risk variants: CLNK is a separate risk gene at the SLC2A9 locus","author":"Ji","year":"2021","journal-title":"J\u00a0Rheumatol"},{"key":"10.1016\/j.berh.2021.101721_bib30","author":"Takei","year":"2021","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib31","doi-asserted-by":"crossref","first-page":"713710","DOI":"10.3389\/fphys.2021.713710","article-title":"Genetic and Physiological effects of insulin on human urate homeostasis","volume":"12","author":"Mandal","year":"2021","journal-title":"Front Physiol"},{"key":"10.1016\/j.berh.2021.101721_bib32","doi-asserted-by":"crossref","first-page":"5223","DOI":"10.1073\/pnas.1214530110","article-title":"Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules","volume":"110","author":"Woodward","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.berh.2021.101721_bib33","doi-asserted-by":"crossref","first-page":"4081","DOI":"10.1093\/hmg\/ddp357","article-title":"The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver","volume":"18","author":"Beer","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.berh.2021.101721_bib34","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1038\/cdd.2011.147","article-title":"The death domain-containing protein Unc5CL is a novel MyD88-independent activator of the pro-inflammatory IRAK signaling cascade","volume":"19","author":"Heinz","year":"2012","journal-title":"Cell Death Differ"},{"key":"10.1016\/j.berh.2021.101721_bib35","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng.2500","article-title":"Genome-wide association analyses identify 18 new loci associated with serum urate concentrations","volume":"45","author":"K\u00f6ttgen","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.berh.2021.101721_bib36","doi-asserted-by":"crossref","first-page":"4813","DOI":"10.1093\/hmg\/ddq412","article-title":"A\u00a0strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not M\u0101ori, case and control sample sets","volume":"19","author":"Phipps-Green","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.berh.2021.101721_bib37","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.1093\/rheumatology\/kez685","article-title":"Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus","volume":"59","author":"Zaidi","year":"2020","journal-title":"Rheumatology"},{"key":"10.1016\/j.berh.2021.101721_bib38","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13075-017-1254-8","article-title":"Population-specific association between ABCG2 variants and tophaceous disease in people with gout","volume":"19","author":"He","year":"2017","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.berh.2021.101721_bib39","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1002\/cpt.89","article-title":"Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response","volume":"97","author":"Wen","year":"2015","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.berh.2021.101721_bib40","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/tpj.2015.101","article-title":"ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout","volume":"17","author":"Roberts","year":"2017","journal-title":"Pharmacogenomics J"},{"key":"10.1016\/j.berh.2021.101721_bib41","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1093\/rheumatology\/kex467","article-title":"Association between ABCG2 rs2231142 and poor response to allopurinol: replication and meta-analysis","volume":"57","author":"Wallace","year":"2018","journal-title":"Rheumatology"},{"key":"10.1016\/j.berh.2021.101721_bib42","doi-asserted-by":"crossref","first-page":"3642","DOI":"10.1158\/0008-5472.CAN-11-2008","article-title":"Histone deacetylase inhibitors influence chemotherapy transport by modulating expression and trafficking of a common polymorphic variant of the ABCG2 efflux transporter","volume":"72","author":"Basseville","year":"2012","journal-title":"Cancer Res"},{"key":"10.1016\/j.berh.2021.101721_bib43","doi-asserted-by":"crossref","first-page":"2767","DOI":"10.1038\/s41467-020-16525-w","article-title":"The ABCG2 Q141K hyperuricemia and gout associated variant illuminates the physiology of human urate excretion","volume":"11","author":"Hoque","year":"2020","journal-title":"Nat Commun"},{"key":"10.1016\/j.berh.2021.101721_bib44","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1136\/annrheumdis-2015-208111","article-title":"Hyperuricaemia: contributions of urate transporter ABCG2 and the fractional renal clearance of urate","volume":"75","author":"Kannangara","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib45","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1136\/annrheumdis-2014-206191","article-title":"Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes","volume":"75","author":"Matsuo","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib46","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/j.semnephrol.2020.12.002","article-title":"The shared genetic basis of hyperuricemia, gout and kidney function","volume":"40","author":"Leask","year":"2021","journal-title":"Semin Nephrol"},{"key":"10.1016\/j.berh.2021.101721_bib47","doi-asserted-by":"crossref","first-page":"2543","DOI":"10.1681\/ASN.2020020184","article-title":"Hnf4a is required for the development of cdh6-expressing progenitors into proximal tubules in the mouse kidney","volume":"31","author":"Marable","year":"2020","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.berh.2021.101721_bib48","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.1038\/s41467-021-22761-5","article-title":"The nuclear receptor HNF4 drives a brush border gene program conserved across murine intestine, kidney, and embryonic yolk sac","volume":"12","author":"Chen","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.berh.2021.101721_bib49","doi-asserted-by":"crossref","first-page":"F1041","DOI":"10.1152\/ajprenal.00640.2013","article-title":"Transcriptional regulation of urate transportosome member SLC2A9 by nuclear receptor HNF4alpha","volume":"307","author":"Prestin","year":"2014","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.berh.2021.101721_bib50","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1124\/mol.113.088229","article-title":"Hepatocyte nuclear factors 4\u03b1 and 1\u03b1 regulate kidney developmental expression of drug-metabolizing enzymes and drug transporters","volume":"84","author":"Martovetsky","year":"2013","journal-title":"Mol Pharmacol"},{"key":"10.1016\/j.berh.2021.101721_bib51","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/tpj.2015.55","article-title":"Variability in hepatic expression of organic anion transporter 7\/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors","volume":"16","author":"Emami Riedmaier","year":"2016","journal-title":"Pharmacogenomics J"},{"key":"10.1016\/j.berh.2021.101721_bib52","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1146\/annurev-physiol-021113-170343","article-title":"The molecular physiology of uric acid homeostasis","volume":"77","author":"Mandal","year":"2015","journal-title":"Annu Rev Physiol"},{"key":"10.1016\/j.berh.2021.101721_bib53","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1124\/dmd.111.040295","article-title":"PDZK1 regulates breast cancer resistance protein in small intestine","volume":"39","author":"Shimizu","year":"2011","journal-title":"Drug Metab Dispos"},{"key":"10.1016\/j.berh.2021.101721_bib54","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s12576-018-00658-1","article-title":"Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium\u2013coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12)","volume":"69","author":"Srivastava","year":"2019","journal-title":"J\u00a0Physiol Sci"},{"key":"10.1016\/j.berh.2021.101721_bib55","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1080\/15257770802136024","article-title":"Urate transport across the apical membrane of renal proximal tubules","volume":"27","author":"Endou","year":"2008","journal-title":"Nucleos Nucleot Nucleic Acids"},{"key":"10.1016\/j.berh.2021.101721_bib56","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1101\/gr.139725.112","article-title":"Extensive conservation of ancient microsynteny across metazoans due to cis-regulatory constraints","volume":"22","author":"Irimia","year":"2012","journal-title":"Genome Res"},{"key":"10.1016\/j.berh.2021.101721_bib57","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1016\/j.bbrc.2004.05.222","article-title":"Developmental contribution of c-maf in the kidney: distribution and developmental study of c-maf mRNA in normal mice kidney and histological study of c-maf knockout mice kidney and liver","volume":"320","author":"Imaki","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.berh.2021.101721_bib58","doi-asserted-by":"crossref","first-page":"733","DOI":"10.3389\/fgene.2018.00733","article-title":"Functional urate-associated genetic variants influence expression of lincRNAs LINC01229 and MAFTRR","volume":"9","author":"Leask","year":"2018","journal-title":"Front Genet"},{"key":"10.1016\/j.berh.2021.101721_bib59","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/nrg.2015.10","article-title":"Unique features of long non-coding RNA biogenesis and function","volume":"17","author":"Quinn","year":"2016","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.berh.2021.101721_bib60","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/j.celrep.2015.07.033","article-title":"Nuclear fractionation reveals thousands of chromatin-tethered noncoding RNAs adjacent to active genes","volume":"12","author":"Werner","year":"2015","journal-title":"Cell Rep"},{"key":"10.1016\/j.berh.2021.101721_bib61","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/ni.3093","article-title":"The long intergenic noncoding RNA landscape of human lymphocytes highlights the regulation of T cell differentiation by linc-MAF-4","volume":"16","author":"Ranzani","year":"2015","journal-title":"Nat Immunol"},{"key":"10.1016\/j.berh.2021.101721_bib62","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1186\/s13075-017-1369-y","article-title":"Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout","volume":"19","author":"Rasheed","year":"2017","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.berh.2021.101721_bib63","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1136\/annrheumdis-2019-215521","article-title":"Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout","volume":"78","author":"Kawamura","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib64","doi-asserted-by":"crossref","first-page":"25360","DOI":"10.1038\/srep25360","article-title":"Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus","volume":"6","author":"Sakiyama","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.berh.2021.101721_bib65","doi-asserted-by":"crossref","first-page":"13854","DOI":"10.1016\/S0021-9258(17)36725-X","article-title":"Effects of changing glutamate 487 to lysine in rat and human liver mitochondrial aldehyde dehydrogenase. A model to study human (Oriental type) class 2 aldehyde dehydrogenase","volume":"269","author":"Farr\u00e9s","year":"1994","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.berh.2021.101721_bib66","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/978-1-4615-2584-4_13","article-title":"Analysis of the genotypes for aldehyde dehydrogenase 2 in Japanese patients with primary gout","volume":"370","author":"Yamanaka","year":"1994","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.berh.2021.101721_bib67","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.cbi.2012.12.018","article-title":"ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein\u2013protein interactions with HPRT1","volume":"202","author":"Vasiliou","year":"2013","journal-title":"Chem Biol Interact"},{"key":"10.1016\/j.berh.2021.101721_bib68","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.cbi.2017.02.013","article-title":"Transcriptomic analysis and plasma metabolomics in Aldh16a1-null mice reveals a potential role of ALDH16A1 in renal function","volume":"276","author":"Charkoftaki","year":"2017","journal-title":"Chem Biol Interact"},{"key":"10.1016\/j.berh.2021.101721_bib69","doi-asserted-by":"crossref","first-page":"R92","DOI":"10.1186\/ar3816","article-title":"The renal urate transporter SLC17A1 locus: confirmation of association with gout","volume":"14","author":"Hollis-Moffatt","year":"2012","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.berh.2021.101721_bib70","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1002\/art.40110","article-title":"Population-specific resequencing associates the ATP-binding cassette subfamily c member 4 gene with gout in New Zealand M\u0101ori and Pacific men","volume":"69","author":"Tanner","year":"2017","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.berh.2021.101721_bib71","doi-asserted-by":"crossref","first-page":"e197","DOI":"10.1371\/journal.pmed.0050197","article-title":"SLC2A9 is a high-capacity urate transporter in humans","volume":"7","author":"Caulfield","year":"2008","journal-title":"PLoS Med"},{"key":"10.1016\/j.berh.2021.101721_bib72","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/nature742","article-title":"Molecular identification of a renal urate-anion exchanger that regulates blood urate levels","volume":"417","author":"Enomoto","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.berh.2021.101721_bib73","first-page":"5118","article-title":"Idiopathic renal hypouricemia: a case report and literature review","volume":"20","author":"Wang","year":"2019","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.berh.2021.101721_bib74","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1186\/s12881-018-0595-8","article-title":"Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review","volume":"19","author":"Zhou","year":"2018","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.berh.2021.101721_bib75","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1038\/s41467-018-06620-4","article-title":"Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels","volume":"9","author":"Tin","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/j.berh.2021.101721_bib76","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1186\/s13075-016-1107-x","article-title":"Lesinurad, a novel, oral compound for gout, acts to decrease serum uric acid through inhibition of urate transporters in the kidney","volume":"18","author":"Miner","year":"2016","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.berh.2021.101721_bib77","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.berh.2019.03.010","article-title":"Management of complex gout in clinical practice: update on therapeutic approaches","volume":"32","author":"Narang","year":"2018","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.berh.2021.101721_bib78","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1136\/annrheumdis-2019-216044","article-title":"Dysfunctional missense variant of OAT10\/SLC22A13 decreases gout risk and serum uric acid levels","volume":"79","author":"Higashino","year":"2020","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.berh.2021.101721_bib79","doi-asserted-by":"crossref","first-page":"16332","DOI":"10.1074\/jbc.M800737200","article-title":"Identification of a new urate and high affinity nicotinate transporter, hOAT10 (SLC22A13)","volume":"283","author":"Bahn","year":"2008","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.berh.2021.101721_bib80","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"}],"container-title":["Best Practice & Research Clinical Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521694221000632?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521694221000632?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T17:22:20Z","timestamp":1761499340000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521694221000632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":80,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["S1521694221000632"],"URL":"https:\/\/doi.org\/10.1016\/j.berh.2021.101721","relation":{},"ISSN":["1521-6942"],"issn-type":[{"value":"1521-6942","type":"print"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The genetic basis of urate control and gout: Insights into molecular pathogenesis from follow-up study of genome-wide association study loci","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Rheumatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.berh.2021.101721","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"101721"}}