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.
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Acknowledgements
This work was supported by the intramural research programs of the National Institute of Dental and Craniofacial Research, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Eye Institute. BDK was supported by the NIH Clinical Research Training Program, a public–private partnership between the Foundation for the National Institutes of Health and Pfizer Inc. Control subjects from a genome-wide association study were analyzed at the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract N01-HG-65403 from the National Institute of Health to the Johns Hopkins University. We thank Yuko Shirota, MD, Stefanie Alexander, BS, Rose Anne Leakan and Ms Donna Kelly for their technical assistance. We thank Christopher I Amos of the University of Texas, MD Anderson Cancer Center, supported by NIH Grant RO1 CA121197, for the control DNA genotypes.
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Korman, B., Alba, M., Le, J. et al. Variant form of STAT4 is associated with primary Sjögren's syndrome. Genes Immun 9, 267–270 (2008). https://doi.org/10.1038/gene.2008.1
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DOI: https://doi.org/10.1038/gene.2008.1
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