{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T11:19:36Z","timestamp":1777461576037,"version":"3.51.4"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2011,6,9]],"date-time":"2011-06-09T00:00:00Z","timestamp":1307577600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2011,6,9]],"date-time":"2011-06-09T00:00:00Z","timestamp":1307577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arthritis Res Ther"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                        <jats:title>Introduction<\/jats:title>\n                        <jats:p>The C allele of the nonsynonymous Arg265His (<jats:italic>rs3733591<\/jats:italic>) variant of <jats:italic>SLC2A9<\/jats:italic> confers risk for gout in Han Chinese, Solomon Island and Japanese samples, with a stronger role in tophaceous gout. There is no evidence for an association with gout in Caucasian populations. In the present study, we tested <jats:italic>rs3733591<\/jats:italic> for association with gout in New Zealand (NZ) M\u0101ori, Pacific Island and Caucasian samples.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Methods<\/jats:title>\n                        <jats:p><jats:italic>Rs3733591<\/jats:italic> was genotyped across gout patients (<jats:italic>n<\/jats:italic> = 229, 232 and 327 NZ M\u0101ori, Pacific Island and Caucasian samples, respectively) and non-gout controls (<jats:italic>n<\/jats:italic> = 343, 174 and 638 M\u0101ori, Pacific Island and Caucasian samples, respectively). Further Caucasian sample sets consisting of 67 cases and 4,712 controls as well as 153 cases and 6,969 controls were obtained from the Framingham Heart Study and the Atherosclerosis Risk in Communities study, respectively. The Polynesian samples were analyzed according to Eastern and Western Polynesian ancestry.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>No evidence for risk conferred by the C allele of <jats:italic>rs3733591<\/jats:italic> with gout was found in the sample sets of NZ M\u0101ori (odd ratio (OR) = 0.98, <jats:italic>P<\/jats:italic> = 0.86), Eastern Polynesians (OR = 0.99, <jats:italic>P<\/jats:italic> = 0.92), Western Polynesians (OR = 1.16, <jats:italic>P<\/jats:italic> = 0.36) or combined Caucasians (OR = 1.15, <jats:italic>P<\/jats:italic> = 0.13). The C allele was significantly overrepresented in M\u0101ori tophaceous cases compared to cases without tophi (OR = 2.21, <jats:italic>P<\/jats:italic> = 0.008), but not in the other ancestral groupings.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusions<\/jats:title>\n                        <jats:p>Noting that our study's power was limited for detecting weak genetic effects, we were unable to replicate associations of <jats:italic>rs3733591<\/jats:italic> with gout in Eastern Polynesian, Western Polynesian and Caucasian samples. However, consistent with a previous study of Han Chinese and Solomon Island populations, our data suggest that <jats:italic>rs3733591<\/jats:italic> could be a marker of severe gout in some populations. Our results also suggest that the effect of this variant is population-specific, further confirming population heterogeneity regarding the association of <jats:italic>SLC2A9<\/jats:italic> with gout.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/ar3356","type":"journal-article","created":{"date-parts":[[2011,6,10]],"date-time":"2011-06-10T05:27:06Z","timestamp":1307683626000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["The SLC2A9 nonsynonymous Arg265His variant and gout: evidence for a population-specific effect on severity"],"prefix":"10.1186","volume":"13","author":[{"given":"Jade E","family":"Hollis-Moffatt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J","family":"Gow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew A","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Highton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter BB","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa K","family":"Stamp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Dalbeth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony R","family":"Merriman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,6,9]]},"reference":[{"key":"3230_CR1","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1136\/ard.56.1.22","volume":"56","author":"P Klemp","year":"1997","unstructured":"Klemp P, Stansfield SA, Castle B, Robertson MC: Gout is on the increase in New Zealand. Ann Rheum Dis. 1997, 56: 22-26. 10.1136\/ard.56.1.22.","journal-title":"Ann Rheum Dis"},{"key":"3230_CR2","first-page":"79","volume":"121","author":"D Winnard","year":"2008","unstructured":"Winnard D, Kake T, Gow P, Barratt-Boyes C, Harris V, Hall DA, Mason H, Merriman T, Dalbeth N, Maaori Gout Action Group in Counties Manukau District Health Board: Debunking the myths to provide 21st century management of gout. N Z Med J. 2008, 121: 79-85.","journal-title":"N Z Med J"},{"key":"3230_CR3","doi-asserted-by":"publisher","first-page":"932","DOI":"10.1093\/rheumatology\/33.10.932","volume":"33","author":"HA Simmonds","year":"1994","unstructured":"Simmonds HA, McBride MB, Hatfield PJ, Graham R, McCaskey J, Jackson M: Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling. Br J Rheumatol. 1994, 33: 932-937. 10.1093\/rheumatology\/33.10.932.","journal-title":"Br J Rheumatol"},{"key":"3230_CR4","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1093\/rheumatology\/23.4.276","volume":"23","author":"T Gibson","year":"1984","unstructured":"Gibson T, Waterworth R, Hatfield P, Robinson G, Bremner K: Hyperuricaemia, gout and kidney function in New Zealand M\u0101ori men. Br J Rheumatol. 1984, 23: 276-282. 10.1093\/rheumatology\/23.4.276.","journal-title":"Br J Rheumatol"},{"key":"3230_CR5","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1161\/CIRCGENETICS.109.934455","volume":"3","author":"Q Yang","year":"2010","unstructured":"Yang Q, K\u00f6ttgen A, Dehghan A, Smith AV, Glazer NL, Chen MH, Chasman DI, Aspelund T, Eiriksdottir G, Harris TB, Launer L, Nalls M, Hernandez D, Arking DE, Boerwinkle E, Grove ML, Li M, Linda Kao WH, Chonchol M, Haritunians T, Li G, Lumley T, Psaty BM, Shlipak M, Hwang SJ, Larson MG, O'Donnell CJ, Upadhyay A, van Duijn CM, Hofman A, et al: Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet. 2010, 3: 523-530. 10.1161\/CIRCGENETICS.109.934455.","journal-title":"Circ Cardiovasc Genet"},{"key":"3230_CR6","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1038\/ng.107","volume":"40","author":"A D\u00f6ring","year":"2008","unstructured":"D\u00f6ring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, Fischer G, Henke K, Klopp N, Kronenberg F, Paulweber B, Pfeufer A, Rosskopf D, V\u00f6lzke H, Illig T, Meitinger T, Wichmann HE, Meisinger C: SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet. 2008, 40: 430-436. 10.1038\/ng.107.","journal-title":"Nat Genet"},{"key":"3230_CR7","doi-asserted-by":"publisher","first-page":"e194","DOI":"10.1371\/journal.pgen.0030194","volume":"3","author":"S Li","year":"2007","unstructured":"Li S, Sanna S, Maschio A, Busonero F, Usala G, Mulas A, Lai S, Dei M, Orr\u00f9 M, Albai G, Bandinelli S, Schlessinger D, Lakatta E, Scuteri A, Najjar SS, Guralnik J, Naitza S, Crisponi L, Cao A, Abecasis G, Ferrucci L, Uda M, Chen WM, Nagaraja R: The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet. 2007, 3: e194-10.1371\/journal.pgen.0030194.","journal-title":"PLoS Genet"},{"key":"3230_CR8","doi-asserted-by":"publisher","first-page":"2874","DOI":"10.1002\/art.23752","volume":"58","author":"PF McArdle","year":"2008","unstructured":"McArdle PF, Parsa A, Chang YP, Weir MR, O'Connell JR, Mitchell BD, Shuldiner AR: Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in Old Order Amish. Arthritis Rheum. 2008, 58: 2874-2881. 10.1002\/art.23752.","journal-title":"Arthritis Rheum"},{"key":"3230_CR9","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/ng.106","volume":"40","author":"V Vitart","year":"2008","unstructured":"Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, et al: SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet. 2008, 40: 437-442. 10.1038\/ng.106.","journal-title":"Nat Genet"},{"key":"3230_CR10","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.ajhg.2007.11.001","volume":"82","author":"C Wallace","year":"2008","unstructured":"Wallace C, Newhouse SJ, Braund P, Zhang F, Tobin M, Falchi M, Ahmadi K, Dobson RJ, Mar\u00e7ano AC, Hajat C, Burton P, Deloukas P, Brown M, Connell JM, Dominiczak A, Lathrop GM, Webster J, Farrall M, Spector T, Samani NJ, Caulfield MJ, Munroe PB: Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet. 2008, 82: 139-149. 10.1016\/j.ajhg.2007.11.001.","journal-title":"Am J Hum Genet"},{"key":"3230_CR11","doi-asserted-by":"publisher","first-page":"3485","DOI":"10.1002\/art.24938","volume":"60","author":"JE Hollis-Moffatt","year":"2009","unstructured":"Hollis-Moffatt JE, Xu X, Dalbeth N, Merriman ME, Topless R, Waddell C, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Merriman TR: Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand M\u0101ori, Pacific Island, and Caucasian case-control sample sets. Arthritis Rheum. 2009, 60: 3485-3492. 10.1002\/art.24938.","journal-title":"Arthritis Rheum"},{"key":"3230_CR12","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1136\/ard.2009.113357","volume":"69","author":"HP Tu","year":"2010","unstructured":"Tu HP, Chen CJ, Tovosia S, Ko AM, Lee CH, Ou TT, Lin GT, Chang SJ, Chiang SL, Chiang HC, Chen PH, Wang SJ, Lai HM, Ko YC: Associations of a non-synonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon Islanders. Ann Rheum Dis. 2010, 69: 887-890. 10.1136\/ard.2009.113357.","journal-title":"Ann Rheum Dis"},{"key":"3230_CR13","doi-asserted-by":"publisher","first-page":"932","DOI":"10.1136\/ard.2009.111096","volume":"69","author":"W Urano","year":"2010","unstructured":"Urano W, Taniguchi A, Anzai N, Inoue E, Sekita C, Endou H, Kamatani N, Yamanaka H: Association between GLUT9 and gout in Japanese men. Ann Rheum Dis. 2010, 69: 932-933. 10.1136\/ard.2009.111096.","journal-title":"Ann Rheum Dis"},{"key":"3230_CR14","doi-asserted-by":"publisher","first-page":"1953","DOI":"10.1016\/S0140-6736(08)61343-4","volume":"372","author":"A Dehghan","year":"2008","unstructured":"Dehghan A, K\u00f6ttgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS: Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet. 2008, 372: 1953-1961. 10.1016\/S0140-6736(08)61343-4.","journal-title":"Lancet"},{"key":"3230_CR15","doi-asserted-by":"publisher","first-page":"26834","DOI":"10.1074\/jbc.C800156200","volume":"283","author":"N Anzai","year":"2008","unstructured":"Anzai N, Ichida K, Jutabha P, Kimura T, Babu E, Jin CJ, Srivastava S, Kitamura K, Hisatome I, Endou H, Sakurai H: Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans. J Biol Chem. 2008, 283: 26834-26838. 10.1074\/jbc.C800156200.","journal-title":"J Biol Chem"},{"key":"3230_CR16","doi-asserted-by":"publisher","first-page":"e197","DOI":"10.1371\/journal.pmed.0050197","volume":"5","author":"MJ Caulfield","year":"2008","unstructured":"Caulfield MJ, Munroe PB, O'Neill D, Witkowska K, Charchar FJ, Doblado M, Evans S, Eyheramendy S, Onipinla A, Howard P, Shaw-Hawkins S, Dobson RJ, Wallace C, Newhouse SJ, Brown M, Connell JM, Dominiczak A, Farrall M, Lathrop GM, Samani NJ, Kumari M, Marmot M, Brunner E, Chambers J, Elliott P, Kooner J, Laan M, Org E, Veldre G, Viigimaa M, et al: SLC2A9 is a high-capacity urate transporter in humans. PLoS Med. 2008, 5: e197-10.1371\/journal.pmed.0050197.","journal-title":"PLoS Med"},{"key":"3230_CR17","doi-asserted-by":"publisher","first-page":"123","DOI":"10.2174\/157339711795305059","volume":"7","author":"N Anzai","year":"2011","unstructured":"Anzai N, Jutabha P, Kimura T, Fukutomi T: Urate transport: regulators of serum urate levels in humans. Curr Rheumatol Rev. 2011, 7: 123-131. 10.2174\/157339711795305059.","journal-title":"Curr Rheumatol Rev"},{"key":"3230_CR18","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1002\/art.1780200320","volume":"20","author":"SL Wallace","year":"1977","unstructured":"Wallace SL, Robinson H, Masi AT, Decker JL, McCarty DJ, Yu TF: Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum. 1977, 20: 895-900. 10.1002\/art.1780200320.","journal-title":"Arthritis Rheum"},{"key":"3230_CR19","doi-asserted-by":"publisher","first-page":"4813","DOI":"10.1093\/hmg\/ddq412","volume":"19","author":"AJ Phipps-Green","year":"2010","unstructured":"Phipps-Green AJ, Hollis-Moffatt JE, Dalbeth N, Merriman ME, Topless R, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Merriman TR: A strong 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. Hum Mol Genet. 2010, 19: 4813-4819. 10.1093\/hmg\/ddq412.","journal-title":"Hum Mol Genet"},{"key":"3230_CR20","doi-asserted-by":"publisher","first-page":"e19","DOI":"10.1371\/journal.pgen.0040019","volume":"4","author":"JS Friedlaender","year":"2008","unstructured":"Friedlaender JS, Friedlaender FR, Reed FA, Kidd KK, Kidd JR, Chambers GK, Lea RA, Loo JH, Koki G, Hodgson JA, Merriwether DA, Weber JL: The genetic structure of Pacific Islanders. PLoS Genet. 2008, 4: e19-10.1371\/journal.pgen.0040019.","journal-title":"PLoS Genet"},{"key":"3230_CR21","doi-asserted-by":"publisher","first-page":"2234","DOI":"10.1093\/molbev\/msl093","volume":"23","author":"M Kayser","year":"2006","unstructured":"Kayser M, Brauer S, Cordaux R, Casto A, Lao O, Zhivotovsky LA, Moyse-Faurie C, Rutledge RB, Schiefenhoevel W, Gil D, Lin AA, Underhill PA, Oefner PJ, Trent RJ, Stoneking M: Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Mol Biol Evol. 2006, 23: 2234-2244. 10.1093\/molbev\/msl093.","journal-title":"Mol Biol Evol"},{"key":"3230_CR22","doi-asserted-by":"publisher","first-page":"533","DOI":"10.3109\/03630268808991642","volume":"12","author":"RJ Trent","year":"1988","unstructured":"Trent RJ, Mickleson KN, Yakas J, Hertzberg M: Population genetics of the globin genes in Polynesians. Hemoglobin. 1988, 12: 533-537. 10.3109\/03630268808991642.","journal-title":"Hemoglobin"},{"key":"3230_CR23","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/sj.cr.7290286","volume":"15","author":"YY Shi","year":"2005","unstructured":"Shi YY, He L: SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005, 15: 97-98. 10.1038\/sj.cr.7290272.","journal-title":"Cell Res"},{"key":"3230_CR24","unstructured":"Software for Genetic Analysis. [http:\/\/pritch.bsd.uchicago.edu\/software.html]"},{"key":"3230_CR25","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1006\/cbir.2001.0850","volume":"26","author":"A Mobasheri","year":"2002","unstructured":"Mobasheri A, Neama G, Bell S, Richardson S, Carter SD: Human articular chondrocytes express three facilitative glucose transporter isoforms: GLUT1, GLUT3 and GLUT9. Cell Biol Int. 2002, 26: 297-300. 10.1006\/cbir.2001.0850.","journal-title":"Cell Biol Int"},{"key":"3230_CR26","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.1002\/art.27356","volume":"62","author":"N Dalbeth","year":"2010","unstructured":"Dalbeth N, Pool B, Gamble GD, Smith T, Callon KE, McQueen FM, Cornish J: Cellular characterization of the gouty tophus: a quantitative analysis. Arthritis Rheum. 2010, 62: 1549-1556.","journal-title":"Arthritis Rheum"}],"container-title":["Arthritis Research &amp; Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/ar3356.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/ar3356\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/ar3356.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T11:06:02Z","timestamp":1728385562000},"score":1,"resource":{"primary":{"URL":"https:\/\/arthritis-research.biomedcentral.com\/articles\/10.1186\/ar3356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,9]]},"references-count":26,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2011,6]]}},"alternative-id":["3230"],"URL":"https:\/\/doi.org\/10.1186\/ar3356","relation":{},"ISSN":["1478-6354"],"issn-type":[{"value":"1478-6354","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,9]]},"assertion":[{"value":"5 January 2011","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 March 2011","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2011","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2011","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"R85"}}