RT Journal Article
T1 Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study
A1 Suárez Gestal, María de los Ángeles
A1 Calaza Cabanas, Manuel
A1 Endreffy, Emöke
A1 Pullmann, Rudolf
A1 Ordi Ros, Josep
A1 Sebastiani, Gian Domenico
A1 Ruzickova, Sarka
A1 Santos, María José
A1 Papasteriades, Chryssa
A1 Marchini, Maurizio
A1 Skopouli, Fotini N.
A1 Suárez, Ana
A1 Blanco, Francisco J.
A1 D'Alfonso, Sandra
A1 Bijl, Marc
A1 Carreira, Patricia
A1 Witte, Torsten
A1 Migliaresi, Sergio
A1 Gómez-Reino Carnota, Juan Jesús
A1 González Martínez-Pedrayo, Antonio
A1 European Consortium of SLE DNA Collections, 
K1 Systemic Lupus Erythematosus
K1 Systemic Lupus Erythematosus Patient
K1 Additional Data File
K1 Causal Polymorphism
K1 KIAA1542 Gene
AB IntroductionWe aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.MethodsWe 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.ResultsA 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.ConclusionsOur 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 respect
PB BMC
SN 1478-6354
YR 2009
FD 2009
LK http://hdl.handle.net/10347/23077
UL http://hdl.handle.net/10347/23077
LA eng
NO Suarez-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/ar2698
NO The present work was supported by Fondo de Investigacion Sanitaria of the Instituto de Salud Carlos III (Spain), grants 04/1651 and 06/0620 that are partially financed by the Fondo Europeo de Desarrollo Regional program of the European Union, by grants from the Xunta de Galicia, and by BMBF KN Rheuma grant C2.12 (to TW)
DS Minerva
RD 24 abr 2026