Access

Letter

Nature Genetics 38, 550–555 (1 May 2006) | doi:10.1038/ng1782

A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus

Robert R Graham , Sergey V Kozyrev , Emily C Baechler , M V Prasad Linga Reddy , Robert M Plenge , Jason W Bauer , Ward A Ortmann , Thearith Koeuth , Ma Francisca Gonz|[aacute]|lez Escribano , the Argentine and Spanish Collaborative Groups , Bernardo Pons-Estel , Michelle Petri , Mark Daly , Peter K Gregersen , Javier Mart|[iacute]|n , David Altshuler , Timothy W Behrens & Marta E Alarc|[oacute]|n-Riquelme

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by activation of the type I interferon (IFN) pathway. Here we convincingly replicate association of the IFN regulatory factor 5 (IRF5) rs2004640 T allele with SLE in four independent case-control cohorts (P = 4.4 |[times]| 10|[minus]|16) and by family-based transmission disequilibrium test analysis (P = 0.0006).