1. ¹Complex Disease Genetics Unit, Genetics and Genomics Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, Bethesda, MD, USA
2. ²Sjögren's Syndrome Clinic, Molecular Physiology and Therapeutics Branch, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA
3. ³Office of the Clinical Director, National Eye Institute, Bethesda, MD, USA
4. ⁴National Institutes of Health Clinical Research Training Program, Bethesda, MD, USA

Correspondence: Dr EF Remmers, Genetics and Gemomics Branch, NIAMS, 9 Memorial Drive MSC-0908, Bethesda, MD, 20892, USA. E-mail: remmerse@mail.nih.gov

⁵These authors contributed equally to this work.

Received 19 December 2007; Revised 9 January 2008; Accepted 9 January 2008; Published online 14 February 2008.

Abstract

Single nucleotide polymorphisms in the STAT4 gene have recently been shown to be associated with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Primary Sjögren's sydrome (pSS) is a related autoimmune disease thought to have a pathogenesis similar to these diseases. To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is also associated with pSS, we genotyped rs7574865, the most strongly disease-associated SNP in the variant STAT4 haplotype, in 124 Caucasian pSS subjects and compared them to 1143 Caucasian controls. The disease-associated T allele was more common in chromosomes of the pSS patients (29.6% ) than in controls (22.3% ), leading to a P-value for association of 0.01. These results implicate polymorphisms in the STAT4 gene in the pathogenesis of pSS.