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The effect size of\n                      <jats:italic>ABCG2 rs2231142<\/jats:italic>\n                      on urate is ~\u200960% that of\n                      <jats:italic>SLC2A9<\/jats:italic>\n                      , yet the effect size on gout is greater\n                      <jats:italic>.<\/jats:italic>\n                      We tested the hypothesis that ABCG2 plays a role in the progression from HU to gout by testing for association of\n                      <jats:italic>ABCG2 rs2231142<\/jats:italic>\n                      and\n                      <jats:italic>rs10011796<\/jats:italic>\n                      with gout using HU controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We analysed 1699 European gout cases and 14,350 normouricemic (NU) and HU controls, and 912 New Zealand (NZ) Polynesian (divided into Eastern and Western Polynesian) gout cases and 696 controls. Association testing was performed using logistic and linear regression with multivariate adjusting for confounding variables.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In Europeans and Polynesians, the\n                      <jats:italic>ABCG2<\/jats:italic>\n                      141K (T) allele was associated with gout using HU controls (OR\u2009=\u20091.85,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20093.8E\n                      <jats:sup>\u2212\u200921<\/jats:sup>\n                      and OR\n                      <jats:sub>meta<\/jats:sub>\n                      \u2009=\u20091.85,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20091.3E\n                      <jats:sup>\u2212\u200903<\/jats:sup>\n                      , respectively). There was evidence for an effect of 141K in determining HU in European (OR\u2009=\u20091.56,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20091.7E\n                      <jats:sup>\u2212\u200918<\/jats:sup>\n                      ) but not in Polynesian (OR\n                      <jats:sub>meta<\/jats:sub>\n                      \u2009=\u20091.49,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.057). For\n                      <jats:italic>SLC2A9 rs11942223<\/jats:italic>\n                      , the T allele associated with gout in the presence of HU in European (OR\u2009=\u20091.37,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20094.7E\n                      <jats:sup>\u2212\u200906<\/jats:sup>\n                      ), however significantly weaker than\n                      <jats:italic>ABCG2 rs2231142<\/jats:italic>\n                      141K (\n                      <jats:italic>P<\/jats:italic>\n                      <jats:sub>Het<\/jats:sub>\n                      \u2009=\u20090.0023). In Western Polynesian and European, there was epistatic interaction between\n                      <jats:italic>ABCG2 rs2231142<\/jats:italic>\n                      and\n                      <jats:italic>rs10011796<\/jats:italic>\n                      . Combining the presence of the 141K allele with the\n                      <jats:italic>rs10011796<\/jats:italic>\n                      CC-genotype increased gout risk, in the presence of HU, 21.5-fold in Western Polynesian (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.009) and 2.6-fold in European (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20099.9E\n                      <jats:sup>\u2212\u200906<\/jats:sup>\n                      ). The 141K allele of\n                      <jats:italic>ABCG2<\/jats:italic>\n                      associated with increased gout flare frequency in Polynesian (\n                      <jats:italic>P<\/jats:italic>\n                      <jats:sub>meta<\/jats:sub>\n                      \u00a0\n                      <jats:italic>=<\/jats:italic>\n                      \u00a02.5E\n                      <jats:sup>\u2212\u200903<\/jats:sup>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      These data are consistent with a role for\n                      <jats:italic>ABCG2<\/jats:italic>\n                      141K in gout in the presence of established HU.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13075-020-2136-z","type":"journal-article","created":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T10:02:50Z","timestamp":1584007370000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout"],"prefix":"10.1186","volume":"22","author":[{"given":"Rebekah","family":"Wrigley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J.","family":"Phipps-Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth K.","family":"Topless","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya J.","family":"Major","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murray","family":"Cadzow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Riches","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Kathrin","family":"Tausche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthijs","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo A. 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The following institutional committees in Europe and Australia also granted ethical approval: Research Ethics Committee, University of New South Wales; Ethikkommission, Technische Universit\u00e4t Dresden (EK 8012012); South East Scotland Research Ethics Committee (04\/S1102\/41); Commission Cantonale D\u2019\u00e9thique de la Recherche sur l\u2019\u00eatre Humain, Universit\u00e9 de Lausanne; Commissie Mensgebonden Onderzoek regio Arnhem \u00ad Nijmegen. All subjects gave written informed consent. 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