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Recent genome-wide association studies (GWASs) have revealed several novel single nucleotide polymorphism (SNPs) associated with SUA levels. Of these, rs10821905 of <jats:italic>A1CF<\/jats:italic> and rs1178977 of <jats:italic>BAZ1B<\/jats:italic> showed the greatest and the second greatest significant effect size for increasing SUA level in the Japanese population, but their association with gout is not clear. We examined their association with gout using 1411 clinically-defined Japanese gout patients and 1285 controls, and meta-analyzed our previous gout GWAS data to investigate any association with gout. Replication studies revealed both SNPs to be significantly associated with gout (<jats:italic>P<\/jats:italic>\u2009=\u20090.0366, odds ratio [OR] with 95% confidence interval [CI]: 1.30 [1.02\u20131.68] for rs10821905 of <jats:italic>A1CF<\/jats:italic>, <jats:italic>P<\/jats:italic>\u2009=\u20096.49\u2009\u00d7\u200910<jats:sup>\u20133<\/jats:sup>, OR with 95% CI: 1.29 [1.07\u20131.55] for rs1178977 of <jats:italic>BAZ1B<\/jats:italic>). Meta-analysis also revealed a significant association with gout in both SNPs (<jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20093.16\u2009\u00d7\u200910<jats:sup>\u20134<\/jats:sup>, OR with 95% CI: 1.39 [1.17\u20131.66] for rs10821905 of <jats:italic>A1CF<\/jats:italic>, <jats:italic>P<\/jats:italic><jats:sub><jats:italic>meta<\/jats:italic><\/jats:sub>\u2009=\u20097.28\u2009\u00d7\u200910<jats:sup>\u20135<\/jats:sup>, OR with 95% CI 1.32 [1.15\u20131.51] for rs1178977 of <jats:italic>BAZ1B<\/jats:italic>). This study shows the first known association between SNPs of <jats:italic>A1CF<\/jats:italic>, <jats:italic>BAZ1B<\/jats:italic> and clinically-defined gout cases in Japanese. Our results also suggest a shared physiological\/pathophysiological background between several populations, including Japanese, for both SUA increase and gout susceptibility. Our findings will not only assist the elucidation of the pathophysiology of gout and hyperuricemia, but also suggest new molecular targets.<\/jats:p>","DOI":"10.1007\/s13577-021-00485-4","type":"journal-article","created":{"date-parts":[[2021,1,31]],"date-time":"2021-01-31T08:02:25Z","timestamp":1612080145000},"page":"293-299","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population"],"prefix":"10.1007","volume":"34","author":[{"given":"Makoto","family":"Kawaguchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiyoshi","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Aoyagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiko","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Kawamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikiya","family":"Takao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asahi","family":"Hishida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mako","family":"Nagayoshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuo","family":"Nagase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Ooyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Ooyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nariyoshi","family":"Shinomiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotaka","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,1,31]]},"reference":[{"issue":"1","key":"485_CR1","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1038\/s41572-019-0115-y","volume":"5","author":"N Dalbeth","year":"2019","unstructured":"Dalbeth N, Choi HK, Joosten LAB, Khanna PP, Matsuo H, Perez-Ruiz F, Stamp LK. Gout. Nat Rev Dis Primers. 2019;5(1):69.","journal-title":"Nat Rev Dis Primers"},{"issue":"9654","key":"485_CR2","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(9654):1953\u201361.","journal-title":"Lancet"},{"issue":"6","key":"485_CR3","doi-asserted-by":"publisher","first-page":"e1000504","DOI":"10.1371\/journal.pgen.1000504","volume":"5","author":"Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H, Consortium E, Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI, Consortium E, Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, Volker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H, Consortium P, Doering A, Wichmann HE, Study K, Spector TD, Peltonen L, Volzke H, Nagaraja R, Vollenweider P, Caulfield M, Wtccc, Illig T, Gieger C","year":"2009","unstructured":"Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H, Consortium E, Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI, Consortium E, Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, Volker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H, Consortium P, Doering A, Wichmann HE, Study K, Spector TD, Peltonen L, Volzke H, Nagaraja R, Vollenweider P, Caulfield M, Wtccc, Illig T, Gieger C. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009;5(6):e1000504.","journal-title":"PLoS Genet"},{"issue":"3","key":"485_CR4","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1038\/ng.531","volume":"42","author":"Y Kamatani","year":"2010","unstructured":"Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura Y, Kamatani N. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet. 2010;42(3):210\u20135.","journal-title":"Nat Genet"},{"issue":"20","key":"485_CR5","doi-asserted-by":"publisher","first-page":"4056","DOI":"10.1093\/hmg\/ddr307","volume":"20","author":"A Tin","year":"2011","unstructured":"Tin A, Woodward OM, Kao WH, Liu CT, Lu X, Nalls MA, Shriner D, Semmo M, Akylbekova EL, Wyatt SB, Hwang SJ, Yang Q, Zonderman AB, Adeyemo AA, Palmer C, Meng Y, Reilly M, Shlipak MG, Siscovick D, Evans MK, Rotimi CN, Flessner MF, Kottgen M, Cupples LA, Fox CS, K\u00f6ttgen A. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. Hum Mol Genet. 2011;20(20):4056\u201368.","journal-title":"Hum Mol Genet"},{"issue":"11","key":"485_CR6","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1038\/ng.972","volume":"43","author":"P Sulem","year":"2011","unstructured":"Sulem P, Gudbjartsson DF, Walters GB, Helgadottir HT, Helgason A, Gudjonsson SA, Zanon C, Besenbacher S, Bjornsdottir G, Magnusson OT, Magnusson G, Hjartarson E, Saemundsdottir J, Gylfason A, Jonasdottir A, Holm H, Karason A, Rafnar T, Stefansson H, Andreassen OA, Pedersen JH, Pack AI, de Visser MC, Kiemeney LA, Geirsson AJ, Eyjolfsson GI, Olafsson I, Kong A, Masson G, Jonsson H, Thorsteinsdottir U, Jonsdottir I, Stefansson K. Identification of low-frequency variants associated with gout and serum uric acid levels. 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Tanaka T, Munroe PB, Samani NJ, Jacobs DR, Jr., Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, D\u00f6ring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, LifeLines Cohort S, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J, Hengstenberg C, Nelson CP, Consortium CA, Consortium D, Consortium I, Consortium M, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C","year":"2013","unstructured":"K\u00f6ttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O\u2019Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR, Jr., Liu K, D\u2019Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, D\u00f6ring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, LifeLines Cohort S, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J, Hengstenberg C, Nelson CP, Consortium CA, Consortium D, Consortium I, Consortium M, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013;45(2):145\u201354.","journal-title":"Nat Genet"},{"issue":"5","key":"485_CR8","doi-asserted-by":"publisher","first-page":"5ra11","DOI":"10.1126\/scitranslmed.3000237","volume":"1","author":"H Matsuo","year":"2009","unstructured":"Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, Ito K, Kusanagi Y, Chiba T, Tadokoro S, Takada Y, Oikawa Y, Inoue H, Suzuki K, Okada R, Nishiyama J, Domoto H, Watanabe S, Fujita M, Morimoto Y, Naito M, Nishio K, Hishida A, Wakai K, Asai Y, Niwa K, Kamakura K, Nonoyama S, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Hamajima N, Shinomiya N. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. 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Ann Rheum Dis. 2016;75(4):652\u20139.","journal-title":"Ann Rheum Dis"},{"key":"485_CR11","doi-asserted-by":"publisher","first-page":"7041","DOI":"10.1038\/ncomms8041","volume":"6","author":"C Li","year":"2015","unstructured":"Li C, Li Z, Liu S, Wang C, Han L, Cui L, Zhou J, Zou H, Liu Z, Chen J, Cheng X, Zhou Z, Ding C, Wang M, Chen T, Cui Y, He H, Zhang K, Yin C, Wang Y, Xing S, Li B, Ji J, Jia Z, Ma L, Niu J, Xin Y, Liu T, Chu N, Yu Q, Ren W, Wang X, Zhang A, Sun Y, Wang H, Lu J, Li Y, Qing Y, Chen G, Wang Y, Zhou L, Niu H, Liang J, Dong Q, Li X, Mi QS, Shi Y. Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese. Nat Commun. 2015;6:7041.","journal-title":"Nat Commun"},{"issue":"5","key":"485_CR12","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1136\/annrheumdis-2016-209632","volume":"76","author":"A Nakayama","year":"2017","unstructured":"Nakayama A, Nakaoka H, Yamamoto K, Sakiyama M, Shaukat A, Toyoda Y, Okada Y, Kamatani Y, Nakamura T, Takada T, Inoue K, Yasujima T, Yuasa H, Shirahama Y, Nakashima H, Shimizu S, Higashino T, Kawamura Y, Ogata H, Kawaguchi M, Ohkawa Y, Danjoh I, Tokumasu A, Ooyama K, Ito T, Kondo T, Wakai K, Stiburkova B, Pavelka K, Stamp LK, Dalbeth N, Eurogout C, Sakurai Y, Suzuki H, Hosoyamada M, Fujimori S, Yokoo T, Hosoya T, Inoue I, Takahashi A, Kubo M, Ooyama H, Shimizu T, Ichida K, Shinomiya N, Merriman TR, Matsuo H, Eurogout Consortium. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes. 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