Wipff J, Allanore Y, Kahan A, Meyer O, Mouthon L, Guillevin L, Pierlot C, Glickmans E, Bardin T, Boileau C, Cornélis F, Dieudé P
Lack of association between the protein tyrosine phosphatase non receptor 22 (PTPN22) - 620W Allele and systemic sclerosis in the French Caucasian population. [JOURNAL ARTICLE]
Ann Rheum Dis 2006 Feb 7.
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 tissue connective disease with some autoimmune abnormalities. The aim of our study was to test for association the PTPN22*620W allele with SSc in a French Caucasian cohort, by means of a case-control study with 121 SSc patients 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% vs 9.2%, P = 0.39). The frequency of genotypes carrying at least one 620W allele was similar in both groups (13% vs 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.
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