Association of a functional single‐nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus

• Published in: Arthritis and rheumatism Vol. 52; no. 1; pp. 219 - 224
• Main Authors: Orozco, Gisela, Sánchez, Elena, González‐Gay, Miguel A., López‐Nevot, Miguel A., Torres, Belén, Cáliz, Rafael, Ortego‐Centeno, Norberto, Jiménez‐Alonso, Juan, Pascual‐Salcedo, Dora, Balsa, Alejandro, de Pablo, Rosario, Nuñez‐Roldan, Antonio, González‐Escribano, Ma Francisca, Martín, Javier
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2005; Wiley
• Subjects: Adult; Arthritis, Rheumatoid - genetics; Biological and medical sciences; Cytosine; Diseases of the osteoarticular system; Female; Gene Frequency; Genotype; Humans; Inflammatory joint diseases; Lupus Erythematosus, Systemic - complications; Lupus Erythematosus, Systemic - genetics; Lymphoid Tissue - enzymology; Male; Medical sciences; Middle Aged; Nephritis - etiology; Phosphoprotein Phosphatases - genetics; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Protein Tyrosine Phosphatases - genetics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Thymine; Connective tissue disease; Skin disease; Chronic; Systemic lupus erythematosus; Rheumatoid arthritis; Systemic disease; Diseases of the osteoarticular system; Nucleotide; Autoimmune disease; Inflammatory joint disease; Protein; Polymorphism
• ISSN: 0004-3591; 1529-0131
• DOI: 10.1002/art.20771

Objective To assess the possible association between the PTPN22 gene 1858C→T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Methods Our study population consisted of 826 RA patients, 338 SLE patients, and 1,036 healthy subjects. All subjects were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C→T polymorphism was performed by real‐time polymerase chain reaction technology, using the TaqMan 5′‐allele discrimination assay. Results The overall distribution of genotypes in the RA patients was significantly different from that in the controls (P = 0.005, by chi‐square test with 2 × 3 contingency tables). We observed a statistically significant difference in the distribution of the PTPN22 1858T allele between healthy subjects (7.4%), and RA patients (10.4%) (P = 0.001, odds ratio [OR] 1.45 [95% confidence interval (95% CI) 1.15–1.83]). In addition, PTPN22 1858 C/T and T/T genotypes were present at a significantly higher frequency in SLE patients than in controls (P = 0.02, OR 1.55 [95% CI 1.05–2.29]). Differences were also observed when allele frequencies were compared, with the PTPN22 1858T allele being present at a higher frequency among SLE patients (P = 0.03, OR 1.45 [95% CI 1.01–2.09]). Conclusion These results suggest that the PTPN22 1858T allele may confer differential susceptibility to RA and SLE in the Spanish population.