RT Journal Article
SR Electronic
T1 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
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 574
OP 578
DO 10.3899/jrheum.090440
VO 37
IS 3
A1 SARA E. LÖFGREN
A1 HONG YIN
A1 ANGELICA M. DELGADO-VEGA
A1 ELENA SANCHEZ
A1 SUSANNA LEWÉN
A1 BERNARDO A. PONS-ESTEL
A1 TORSTEN WITTE
A1 SANDRA D’ALFONSO
A1 NORBERTO ORTEGO-CENTENO
A1 JAVIER MARTIN
A1 MARTA E. ALARCÓN-RIQUELME
A1 SERGEY V. KOZYREV
YR 2010
UL http://www.jrheum.org/content/37/3/574.abstract
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.