Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Tyrosine-protein phosphatase non-receptor type 22

The PTPN22 gene encodes a phosphatase which in lymphocytes is involved in signal transduction and plays therefore an important role in reguation of immunity. Genetic variants seem to modify susceptibility and progression in dabetes type 1, rheumatoid arthritis, and systemic lupus erythematodes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to type 1 diabetes 01
PTPN22
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Susceptibility to systemic lupus erythematosus
CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
Susceptibility to lupus nephritis
FCGR2A
Systemic lupus erythematosus susceptibility to 9
CR2
TREX1

References:

1.

Vang T et al. (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.

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2.

Zhang J et al. (2011) The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness.

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3.

Mahdi H et. al. (2009) Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis.

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4.

Barrett JC et al. (2009) Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

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5.

Arechiga AF et al. (2009) Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling.

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6.

Orrú V et al. (2009) A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.

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7.

Cooper JD et al. (2008) Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

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8.

Skinningsrud B et al. (2008) Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

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9.

Yu X et al. (2007) Structure, inhibitor, and regulatory mechanism of Lyp, a lymphoid-specific tyrosine phosphatase implicated in autoimmune diseases.

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10.

Rieck M et al. (2007) Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes.

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11.

None (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

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12.

Kallberg H et. al. (2007) Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis.

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13.

Hinks A et al. (2007) Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK.

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14.

Kawasaki E et al. (2006) Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations.

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15.

Hüffmeier U et al. (2006) Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients.

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16.

Matthews RJ et al. (1992) Characterization of hematopoietic intracellular protein tyrosine phosphatases: description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences.

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17.

Carlton VE et. al. (2005) PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.

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18.

Qu H et al. (2005) Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study.

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19.

Criswell LA et al. (2005) Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.

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20.

Begovich AB et al. (2005) The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis.

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21.

None (2004) PTPN22 and autoimmune disease.

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22.

Smyth D et al. (2004) Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus.

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23.

Kyogoku C et al. (2004) Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.

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24.

Begovich AB et. al. (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

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25.

Bottini N et al. (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

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26.

Hasegawa K et al. (2004) PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells.

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27.

Hill RJ et al. (2002) The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation.

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28.

Cohen S et al. (1999) Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp.

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29.

Cloutier JF et al. (1996) Association of inhibitory tyrosine protein kinase p50csk with protein tyrosine phosphatase PEP in T cells and other hemopoietic cells.

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Update: Aug. 14, 2020
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