Suárez Gestal, María de los ÁngelesCalaza Cabanas, ManuelEndreffy, EmökePullmann, RudolfOrdi Ros, JosepSebastiani, Gian DomenicoRuzickova, SarkaSantos, María JoséPapasteriades, ChryssaMarchini, MaurizioSkopouli, Fotini N.Suárez, AnaBlanco, Francisco J.D'Alfonso, SandraBijl, MarcCarreira, PatriciaWitte, TorstenMigliaresi, SergioGómez-Reino Carnota, Juan JesúsGonzález Martínez-Pedrayo, AntonioEuropean Consortium of SLE DNA Collections2020-07-022020-07-022009Suarez-Gestal, M., Calaza, M., Endreffy, E. et al. Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study. Arthritis Res Ther 11, R69 (2009). https://doi.org/10.1186/ar26981478-6354http://hdl.handle.net/10347/23077Introduction We aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci. Methods 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–Haenszel approach to account for heterogeneity between sample collections. Results A previously controversial association with a SNP in the TYK2 gene was replicated (odds ratio (OR) = 0.79, P = 2.5 × 10-5), as well as association with the X chromosome MECP2 gene (OR = 1.26, P = 0.00085 in women), which had only been reported in a single study, and association with four other loci, 1q25.1 (OR = 0.81, P = 0.0001), PXK (OR = 1.19, P = 0.0038), BANK1 (OR = 0.83, P = 0.006) and KIAA1542 (OR = 0.84, P = 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 LY9 SNP, which had been reported in a single study. Conclusions Our results confirm nine SLE loci. For six of them, TYK2, MECP2, 1q25.1, PXK, BANK1 and KIAA1542, this replication is important. The other three loci, ITGAM, STAT4 and C8orf13-BLK, were already clearly confirmed. Our results also suggest that MECP2 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 respecteng© 2009 Suarez-Gestel et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly citedhttp://creativecommons.org/licenses/by/2.0Systemic Lupus ErythematosusSystemic Lupus Erythematosus PatientAdditional Data FileCausal PolymorphismKIAA1542 Genejournal article10.1186/ar26981478-6362open access