¹The Division of Immunologic and Infectious Diseases, The Children's Hospital of Philadelphia. The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA

²The Division of Rheumatology, The Johns Hopkins School of Medicine, Baltimore, MD 21210, USA

Correspondence to: Kathleen E. Sullivan, MD, PhD, Division of Immunologic and Infectious Diseases, The Children's Hospital of Philadelphia, 34th St. and Civic Ctr. Blvd, Philadelphia, PA 19104, USA. E-mail: Sullivak@mail.med.upenn.edu

The Hopkins Lupus cohort is supported by NIH RO-1 AR43727 and the Johns Hopkins Outpatient Clinical Research Center MO-1 RR 00052. Julia Lee is a recipient of the Gina Finzi Memorial Fellowship and is supported by training grant 5 T32 EYO 7131-07. This work was also supported by RO1 AI/AR 44127-01.

Interferon- is a cytokine which is believed to play a role in both the susceptibility and pathogenesis of lupus. To determine whether genetic variants might influence the development of this polygenic autoimmune disease, we analyzed the gene frequency of eight different alleles in controls and patients with SLE. Ninety-nine controls and 136 patients with systemic lupus erythematosus were genotyped for a CA repeat in the first intron of the interferon- gene. There were no statistically significant differences in the allele frequencies between patients and controls suggesting that these polymorphic variants do not influence susceptibility. We then examined whether any of these alleles were associated with specific clinical manifestations. Allele 1 was associated with gastrointestinal lupus while allele 6 was associated with more severe lupus. Allele 2 appeared to be protective for arthritis. This suggests that genetic variation in interferon- expression might influence the disease course. Genes and Immunity (2001) 2, 254-257.

interferon-; systematic lupus erythematosus; polymorphisms; gastrointestinal lupus