Abstract
A functional variant of protein tyrosine phosphatase nonreceptor 22 (PTPN22) has recently been shown to be associated with multiple autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, type 1 diabetes, and autoimmune thyroid disease. In this review, we discuss the structure and function of this gene and its disease-associated polymorphisms. In addition, we review the studies investigating the association between this gene and SLE, along with other autoimmune diseases.
MeSH terms
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Animals
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Arthritis, Rheumatoid / enzymology
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Arthritis, Rheumatoid / genetics
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Arthritis, Rheumatoid / immunology
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Autoimmunity / genetics*
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Diabetes Mellitus, Type 1 / enzymology
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Diabetes Mellitus, Type 1 / genetics
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Diabetes Mellitus, Type 1 / immunology
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Humans
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Lupus Erythematosus, Systemic / enzymology
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Lupus Erythematosus, Systemic / genetics*
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Lupus Erythematosus, Systemic / immunology
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Polymorphism, Genetic / immunology
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Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
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Protein Tyrosine Phosphatase, Non-Receptor Type 22 / immunology
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Thyroid Diseases / enzymology
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Thyroid Diseases / genetics
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Thyroid Diseases / immunology
Substances
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PTPN22 protein, human
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Protein Tyrosine Phosphatase, Non-Receptor Type 22