The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population

C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity. This work has investigated the possible association between PTPN22 C1858T (rs2476601) polymorphism an...

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Published in:Clinical and experimental rheumatology 2012-07, Vol.30 (4), p.520-524
Main Authors: RAMIREZ, M, QUINTANA, G, ROBLEDO, G, MARTIN, J, IGLESIAS-GAMARRA, A, DIAZ-GALLO, L.-M, CAMINOS, J, GARCES, M, CEPEDA, L, RONDON, F, RESTREPO, J. F, EGEA, E, GARAVITO, G
Format: Article
Language:English
Subjects:
Adult
Arthritis, Rheumatoid - epidemiology
Arthritis, Rheumatoid - genetics
Biological and medical sciences
Case-Control Studies
Colombia - epidemiology
Diseases of the osteoarticular system
Female
Gene Frequency
Genetic Predisposition to Disease - epidemiology
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Genotype
Humans
Inflammatory joint diseases
Lupus Erythematosus, Systemic - epidemiology
Lupus Erythematosus, Systemic - genetics
Male
Medical sciences
Middle Aged
Polymorphism, Single Nucleotide - genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics
Risk Factors
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Scleroderma, Systemic - epidemiology
Scleroderma, Systemic - genetics
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Summary:C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity. This work has investigated the possible association between PTPN22 C1858T (rs2476601) polymorphism and rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) in a Colombian population. A case-control study included 1,042 samples from 413 RA, 94 SLE and 101 SSc patients and 434 healthy controls. The TaqMan allele discrimination assay was used for genotyping. The case-control study provided robust evidence of association between allele 1858T and RA (p=5E-05), as well as between 1858T and SLE (p=0.004). These observations were confirmed for both diseases by meta-analysis (p=2E-04, pooled OR 1.9; 1.3-2.7 95% CI for RA; p
ISSN:0392-856X
1593-098X