PT  - JOURNAL ARTICLE
AU  - SARA E. LÖFGREN
AU  - HONG YIN
AU  - ANGELICA M. DELGADO-VEGA
AU  - ELENA SANCHEZ
AU  - SUSANNA LEWÉN
AU  - BERNARDO A. PONS-ESTEL
AU  - TORSTEN WITTE
AU  - SANDRA D’ALFONSO
AU  - NORBERTO ORTEGO-CENTENO
AU  - JAVIER MARTIN
AU  - MARTA E. ALARCÓN-RIQUELME
AU  - SERGEY V. KOZYREV
TI  - Promoter Insertion/Deletion in the <em>IRF5</em> Gene Is Highly Associated with Susceptibility to Systemic Lupus Erythematosus in Distinct Populations, But Exerts a Modest Effect on Gene Expression in Peripheral Blood Mononuclear Cells
AID  - 10.3899/jrheum.090440
DP  - 2010 Mar 01
TA  - The Journal of Rheumatology
PG  - 574--578
VI  - 37
IP  - 3
4099  - http://www.jrheum.org/content/37/3/574.short
4100  - http://www.jrheum.org/content/37/3/574.full
SO  - J Rheumatol2010 Mar 01; 37
AB  - Objective. We examined the genetic association of the promoter insertion/deletion (indel) in IRF5 gene with systemic lupus erythematosus (SLE) in distinct populations and assessed its role in gene expression. Methods. Four IRF5 polymorphisms were genotyped in 1488 SLE patients and 1466 controls. Gene expression was analyzed by quantitative real-time PCR using RNA from peripheral blood mononuclear cells (PBMC). Results. The promoter indel and rs2070197 had independent genetic effects, which accounted for the association of rs2004640 and rs10954213. Gene expression analysis revealed that rs10954213 exerted the greatest influence on IRF5 transcript levels. Conclusion. We corroborated the association of the promoter indel with SLE in 5 different populations and revealed that rs10954213 is the main single-nucleotide polymorphism responsible for altered IRF5 expression in PBMC.