Opposed independent effects and epistasis in the complex association of IRF5 to SLE
- I. Ferreiro Neira
- M. Calaza
- E. Alonso Perez
- G. D. Sebastiani
- F. J. Blanco
- I. Rego
- R. J.r. Pullmann
- R. Pullmann
- C. G. Kallemberg
- M. Bijl
- F. N. Skopouli
- M. Mavromati
- S. Migliaresi
- N. Barizzone
- S. Ruzickova
- C. Dostal
- R. E. Schmidt
- T. Witte
- C. Papasteriades
- I. Kappou Rigatou
- E. Endreffy
- A. Kovacs
- J. Ordi Ros
- E. Balada
- P. Carreira
- J. J. Gomez Reino
- A. Gonzalez
- M. Marchini
- R. Scorza
DOIAbstract
Genetic variation in the interferon regulatory factor 5 (IRF5) gene affects systemic lupus erythematosus (SLE) susceptibility. However, association is complex and incompletely defined. We obtained fourteen European sample collections with a total of 1383 SLE patients and 1614 controls to better define the role of the different IRF5 variants. Eleven polymorphisms were studied, including nine tag single nucleotide polymorphisms (SNPs) and two extra functional polymorphisms. Two tag SNPs showed independent and opposed associations: Susceptibility (rs10488631, P<10-17) and protection (rs729302, P<10-6). Haplotype analyses showed that the susceptibility haplotype, identified by the minor allele of rs10488631, can be due to epistasis between thre...
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