Association between the functional PTPN22 G788A (R263Q) polymorphism and susceptibility to autoimmune diseases: A meta-analysis

• Published in: Cellular and Molecular Biology Vol. 64; no. 5; pp. 46 - 51
• Main Authors: Bae, Sang-Cheol, Lee, Young Ho
• Format: Journal Article
• Language: English
• Published: France 30.04.2018
• Subjects: Arthritis, Rheumatoid - ethnology; Arthritis, Rheumatoid - genetics; Arthritis, Rheumatoid - immunology; Arthritis, Rheumatoid - pathology; Case-Control Studies; Colitis, Ulcerative - ethnology; Colitis, Ulcerative - genetics; Colitis, Ulcerative - immunology; Colitis, Ulcerative - pathology; Crohn Disease - ethnology; Crohn Disease - genetics; Crohn Disease - immunology; Crohn Disease - pathology; Disease Resistance - genetics; European Continental Ancestry Group; Gene Expression; Genetic Association Studies; Genotype; Giant Cell Arteritis - ethnology; Giant Cell Arteritis - genetics; Giant Cell Arteritis - immunology; Giant Cell Arteritis - pathology; Graves Disease - ethnology; Graves Disease - genetics; Graves Disease - immunology; Graves Disease - pathology; Hispanic Americans; Humans; Lupus Erythematosus, Systemic - ethnology; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Lupus Erythematosus, Systemic - pathology; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics; Purpura, Schoenlein-Henoch - ethnology; Purpura, Schoenlein-Henoch - genetics; Purpura, Schoenlein-Henoch - immunology; Purpura, Schoenlein-Henoch - pathology; Scleroderma, Systemic - ethnology; Scleroderma, Systemic - genetics; Scleroderma, Systemic - immunology; Scleroderma, Systemic - pathology; Uveitis - ethnology; Uveitis - genetics; Uveitis - immunology; Uveitis - pathology; Autoimmune diseases; PTPN22; Meta-analysis
• ISSN: 0145-5680; 1165-158X; 1165-158X
• DOI: 10.14715/cmb/2018.64.5.7

This study explored whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) G788A (R263Q) polymorphism is associated with susceptibility to autoimmune diseases. A meta-analysis was conducted using 23 comparative studies with a total of 16,719 patients and 17,783 controls. The meta-analysis showed an association between the A allele of the PTPN22 G788A polymorphism and decreased risk of autoimmune diseases in all subjects (p < 0.001). Analysis after stratification by ethnicity indicated that the PTPN22 788A allele was significantly associated with autoimmune diseases in Europeans (p < 0.001) but not in Latin Americans. Meta-analysis by autoimmune disease type showed a significant negative association between the PTPN22 788A allele and systemic lupus erythematous (SLE) (p = 001), rheumatoid arthritis (RA) (p = 0.008), ulcerative colitis (UC) (p = 0.016), but not Crohn's disease (CD). A single study for each showed no association between the PTPN22 788A allele and systemic sclerosis, giant cell arteritis, Henoch-schonlein purpura, uveitis, and Grave's disease. This meta-analysis demonstrates that the PTPN22 G788A polymorphism confers protection against SLE, RA, and UC, supporting evidence of association of the PTPN22 gene with a subgroup of autoimmune diseases.