Email updates

Keep up to date with the latest news and content from Arthritis Research & Therapy and BioMed Central.

This article is part of the supplement: The role of IFN alpha in autoimmune disease

Review

Genetic associations in type I interferon related pathways with autoimmunity

Angélica M Delgado-Vega1, Marta E Alarcón-Riquelme123 and Sergey V Kozyrev1*

Author Affiliations

1 Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85 Uppsala, Sweden

2 Arthritis and Immunology Program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA

3 Andalucian Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucía, Parque Tecnologico Ciencias de la Salud, Avda. Conocimiento S/N, 18100 Armilla, Granada, Spain

For all author emails, please log on.

Arthritis Research & Therapy 2010, 12(Suppl 1):S2  doi:10.1186/ar2883

Published: 14 April 2010

Abstract

Type I interferons play an outstanding role in innate and adaptive immunity by enhancing functions of dendritic cells, inducing differentiation of monocytes, promoting immunoglobulin class switching in B cells and stimulating effector functions of T cells. The increased production of IFNα/β by plasmacytoid dendritic cells could be responsible for not only efficient antiviral defence, but it also may be a pathological factor in the development of various autoimmune disorders. The first evidence of a genetic link between type I interferons and autoimmune diseases was the observation that elevated IFNα activity is frequently detected in the sera of patients with systemic lupus erythematosus, and that this trait shows high heritability and familial aggregation in their first-degree healthy relatives. To date, a number of genes involved in interferon signalling have been associated with various autoimmune diseases. Patients with systemic lupus erythematosus, Sjögren's syndrome, dermatomyositis, psoriasis, and a fraction of patients with rheumatoid arthritis display a specific expression pattern of interferon-dependent genes in their leukocytes, termed the interferon signature. Here, in an attempt to understand the role of type I interferons in the pathogenesis of autoimmunity, we review the recent advances in the genetics of autoimmune diseases focusing on the association of genes involved in type I interferon pathways.