{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T08:14:18Z","timestamp":1768551258378,"version":"3.49.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2009,5,14]],"date-time":"2009-05-14T00:00:00Z","timestamp":1242259200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2009,5,14]],"date-time":"2009-05-14T00:00:00Z","timestamp":1242259200000},"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>We aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Methods<\/jats:title>\n                        <jats:p>We selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed in 1,579 patients with SLE and 1,726 controls of European origin by single-base extension. Comparison of allele frequencies between cases and controls was done with the Mantel\u2013Haenszel approach to account for heterogeneity between sample collections.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>A previously controversial association with a SNP in the <jats:italic>TYK2<\/jats:italic> gene was replicated (odds ratio (OR) = 0.79, <jats:italic>P<\/jats:italic> = 2.5 \u00d7 10-<jats:sup>5<\/jats:sup>), as well as association with the X chromosome <jats:italic>MECP2<\/jats:italic> gene (OR = 1.26, <jats:italic>P<\/jats:italic> = 0.00085 in women), which had only been reported in a single study, and association with four other loci, <jats:italic>1q25.1<\/jats:italic> (OR = 0.81, <jats:italic>P<\/jats:italic> = 0.0001), <jats:italic>PXK<\/jats:italic> (OR = 1.19, <jats:italic>P<\/jats:italic> = 0.0038), <jats:italic>BANK1<\/jats:italic> (OR = 0.83, <jats:italic>P<\/jats:italic> = 0.006) and <jats:italic>KIAA1542<\/jats:italic> (OR = 0.84, <jats:italic>P<\/jats:italic> = 0.001), which have been identified in a genome-wide association study, but not found in any other study. All these replications showed the same disease-associated allele as originally reported. No association was found with the <jats:italic>LY9<\/jats:italic> SNP, which had been reported in a single study.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusions<\/jats:title>\n                        <jats:p>Our results confirm nine SLE loci. For six of them, <jats:italic>TYK2<\/jats:italic>, <jats:italic>MECP2<\/jats:italic>, <jats:italic>1q25.1<\/jats:italic>, <jats:italic>PXK<\/jats:italic>, <jats:italic>BANK1<\/jats:italic> and <jats:italic>KIAA1542<\/jats:italic>, this replication is important. The other three loci, <jats:italic>ITGAM<\/jats:italic>, <jats:italic>STAT4<\/jats:italic> and <jats:italic>C8orf13-BLK<\/jats:italic>, were already clearly confirmed. Our results also suggest that <jats:italic>MECP2<\/jats:italic> association has no influence in the sex bias of SLE, contrary to what has been proposed. In addition, none of the other associations seems important in this respect.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/ar2698","type":"journal-article","created":{"date-parts":[[2012,7,5]],"date-time":"2012-07-05T02:36:44Z","timestamp":1341455804000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":122,"title":["Replication of recently identified systemic lupus erythematosus genetic associations: a case\u2013control study"],"prefix":"10.1186","volume":"11","author":[{"given":"Marian","family":"Suarez-Gestal","sequence":"first","affiliation":[]},{"given":"Manuel","family":"Calaza","sequence":"additional","affiliation":[]},{"given":"Em\u00f6ke","family":"Endreffy","sequence":"additional","affiliation":[]},{"given":"Rudolf","family":"Pullmann","sequence":"additional","affiliation":[]},{"given":"Josep","family":"Ordi-Ros","sequence":"additional","affiliation":[]},{"given":"Gian Domenico","family":"Sebastiani","sequence":"additional","affiliation":[]},{"given":"Sarka","family":"Ruzickova","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Jose Santos","sequence":"additional","affiliation":[]},{"given":"Chryssa","family":"Papasteriades","sequence":"additional","affiliation":[]},{"given":"Maurizio","family":"Marchini","sequence":"additional","affiliation":[]},{"given":"Fotini N","family":"Skopouli","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Suarez","sequence":"additional","affiliation":[]},{"given":"Francisco J","family":"Blanco","sequence":"additional","affiliation":[]},{"given":"Sandra","family":"D'Alfonso","sequence":"additional","affiliation":[]},{"given":"Marc","family":"Bijl","sequence":"additional","affiliation":[]},{"given":"Patricia","family":"Carreira","sequence":"additional","affiliation":[]},{"given":"Torsten","family":"Witte","sequence":"additional","affiliation":[]},{"given":"Sergio","family":"Migliaresi","sequence":"additional","affiliation":[]},{"given":"Juan J","family":"Gomez-Reino","sequence":"additional","affiliation":[]},{"given":"Antonio","family":"Gonzalez","sequence":"additional","affiliation":[]},{"name":"the European Consortium of SLE DNA Collections","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2009,5,14]]},"reference":[{"issue":"Suppl 1","key":"2538_CR1","doi-asserted-by":"publisher","first-page":"S71","DOI":"10.1038\/sj.gene.6363885","volume":"3","author":"JA Kelly","year":"2002","unstructured":"Kelly JA, Moser KL, Harley JB: The genetics of systemic lupus erythematosus: putting the pieces together. 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