OBJECTIVE: It has recently been reported that some autoimmune diseases seem to be associated with a functional polymorphism in PTPN22, a gene which encodes a phosphatase known to be important in T-cell signaling. The aim of our study was to check for the prevalence of the PTPN22 R620W polymorphism in patients with systemic sclerosis. METHODS: DNA samples from 54 systemic sclerosis patients and 55 healthy controls were obtained from peripheral blood and genotyping was performed by means of a restriction fragment length polymorphism analysis of PCR products (RFLP-PCR). RESULTS: Allele frequency for the T allele was slightly higher in the patients group (0.074 versus 0.055). Eight out of the 54 systemic sclerosis patients (14.8 %) were heterozygous for this single nucleotide polymorphism whereas the CT genotype was found in 6 out of the 55 controls (10.9%). Nevertheless, the difference did not reach statistical significance (p = 0.542). Neither certain antibodies linked to systemic sclerosis (anti-centromere and anti-topoisomerase I antibodies) nor any particular clinical involvement were associated with the polymorphism. CONCLUSION: This particular single nucleotide polymorphism of PTPN22 does not seem to be associated with systemic sclerosis.
OBJECTIVE: It has recently been reported that some autoimmune diseases seem to be associated with a functional polymorphism in PTPN22, a gene which encodes a phosphatase known to be important in T-cell signaling. The aim of our study was to check for the prevalence of the PTPN22R620W polymorphism in patients with systemic sclerosis. METHODS: DNA samples from 54 systemic sclerosispatients and 55 healthy controls were obtained from peripheral blood and genotyping was performed by means of a restriction fragment length polymorphism analysis of PCR products (RFLP-PCR). RESULTS: Allele frequency for the T allele was slightly higher in the patients group (0.074 versus 0.055). Eight out of the 54 systemic sclerosispatients (14.8 %) were heterozygous for this single nucleotide polymorphism whereas the CT genotype was found in 6 out of the 55 controls (10.9%). Nevertheless, the difference did not reach statistical significance (p = 0.542). Neither certain antibodies linked to systemic sclerosis (anti-centromere and anti-topoisomerase I antibodies) nor any particular clinical involvement were associated with the polymorphism. CONCLUSION: This particular single nucleotide polymorphism of PTPN22 does not seem to be associated with systemic sclerosis.
Authors: Debendra Pattanaik; Monica Brown; Bradley C Postlethwaite; Arnold E Postlethwaite Journal: Front Immunol Date: 2015-06-08 Impact factor: 7.561
Authors: L M Diaz-Gallo; P Gourh; J Broen; C Simeon; V Fonollosa; N Ortego-Centeno; S Agarwal; M C Vonk; M Coenen; G Riemekasten; N Hunzelmann; R Hesselstrand; F K Tan; J D Reveille; S Assassi; F J García-Hernandez; P Carreira; M T Camps; A Fernandez-Nebro; P Garcia de la Peña; T Nearney; D Hilda; M A González-Gay; P Airo; L Beretta; R Scorza; A Herrick; J Worthington; A Pros; I Gómez-Gracia; L Trapiella; G Espinosa; I Castellvi; T Witte; F de Keyser; M Vanthuyne; M D Mayes; T R D J Radstake; F C Arnett; J Martin; B Rueda Journal: Ann Rheum Dis Date: 2010-12-03 Impact factor: 19.103