Περίληψη:
Introduction 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 x 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
respect.
Συγγραφείς:
Suarez-Gestal, Marian
Calaza, Manuel
Endreffy, Emoeke and
Pullmann, Rudolf
Ordi-Ros, Josep
Sebastiani, Gian Domenico and
Ruzickova, Sarka
Santos, Maria Jose
Papasteriades, Chryssa and
Marchini, Maurizio
Skopouli, Fotini N.
Suarez, Ana
Blanco,
Francisco J.
D'Alfonso, Sandra
Bijl, Marc
Carreira, Patricia
and Witte, Torsten
Migliaresi, Sergio
Gomez-Reino, Juan J. and
Gonzalez, Antonio
European Consortium SLE DNA
