title: Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population.
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.
authors.affiliation: Rheumatology A Department, Cochin Hospital, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Wipff
authors.forename: Y
authors.initials: Y
authors.lastname: Allanore
authors.forename: A
authors.initials: A
authors.lastname: Kahan
authors.forename: O
authors.initials: O
authors.lastname: Meyer
authors.forename: L
authors.initials: L
authors.lastname: Mouthon
authors.forename: L
authors.initials: L
authors.lastname: Guillevin
authors.forename: C
authors.initials: C
authors.lastname: Pierlot
authors.forename: E
authors.initials: E
authors.lastname: Glikmans
authors.forename: T
authors.initials: T
authors.lastname: Bardin
authors.forename: C
authors.initials: C
authors.lastname: Boileau
authors.forename: F
authors.initials: F
authors.lastname: Cornélis
authors.forename: P
authors.initials: P
authors.lastname: Dieudé
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001323:Autoantibodies / Q000097:blood; D016022:Case-Control Studies; D002503:Centromere / Q000276:immunology; D004264:DNA Topoisomerases, Type I / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000201:enzymology / Q000235:genetics* / Q000276:immunology
chemical_list: D001323:Autoantibodies; C516765:PTPN22 protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases; D004264:DNA Topoisomerases, Type I