Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population. Issue 9 (7th February 2006)

• Record Type: Journal Article
• Authors: Wipff, J; Allanore, Y; Kahan, A; Meyer, O; Mouthon, L; Guillevin, L; Pierlot, C; Glikmans, E; Bardin, T; Boileau, C; Cornélis, F; Dieudé, P
• Is Part Of: Annals of the rheumatic diseases. Volume 65:Issue 9(2006)
• Page Start: 1230
• Page End: 1232
• Publication Date: 2006-02-07
• Subjects: Csk, intracellular tyrosine kinase -- PTPN22, protein tyrosine phosphatase non-receptor 22 gene -- SNP, single-nucleotide polymorphism -- SSc, systemic sclerosis; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/ard.2005.048181
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601 ) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. Systemic sclerosis (SSc) is a connective tissue disease with some autoimmune abnormalities. The aim of our study was to test for association of the PTPN22*620W allele with SSc in a French Caucasian cohort with a case–control study of 121 patients with SSc and 103 controls. All patients and controls were genotyped for the PTPN22*R620W SNP. No association was found between the PTPN22*620W allele and SSc (7% v 9.2%, p = 0.39). The frequency of genotypes carrying at least one 620W allele was similar in both groups (13% v 17%, p = 0.38). The PTPN22*620W allele was also not associated with autoantibody patterns. Thus, the PTPN22*R620W polymorphism cannot be regarded as a genetic susceptibility factor for SSc in the French Caucasian population.