Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Non-receptor Tyrosin-Protein-Phosphatase Typ 22

Das PTPN22-Gen kodiert eine lymphozyten spezifische Thyrosinkinase die eine Bedeutung ür die Immunregulation zu besitzen scheint. Genetische Variationen besitzen Einfluss auf die Entwicklung des Diabetes Typ 1, der rheumatoid Arthritis und des systemischen Lupus erythematodes.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Suszeptibilität für Typ 1 Diabetes 01
PTPN22
Suszeptibilität für Rheumatoide Arthritis
IL10
PTPN22
Suszeptibilität für systemischen Lupus erythematodes
Anfälligkeit für systemischen Lupus erythematodes 9
CR2
CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
Suszeptibilität für Lupus-Nephritis
FCGR2A
TREX1

Referenzen:

1.

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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2.

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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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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

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9.

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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10.

None (2004) PTPN22 and autoimmune disease.

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11.

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

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12.

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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13.

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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14.

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

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15.

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

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16.

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

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17.

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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18.

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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19.

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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20.

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

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21.

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

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22.

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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23.

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

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24.

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

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25.

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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26.

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

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27.

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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28.

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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29.

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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Update: 17. Oktober 2019