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Open Access 01-11-2010 | Poster presentation

Differential association of two PTPN22 coding variants with Crohn’s disease and ulcerative colitis

Authors: L M Diaz-Gallo, L Espino-Paisán, K Fransen, M Gómez-García, S van Sommeren, C Cardeña, L Rodrigo, J L Mendoza, C Taxonera, A Nieto, G Alcain, I Cueto, M A López-Nevot, N Bottini, M L Barclay, J B Crusius, A A van Bodegraven, C Wijmenga, C Y Ponsioen, R B Gearry, R L Roberts, R K Weersma, E Urcelay, T R Merriman, B Z Alizadeh, J Martin

Published in: Journal of Translational Medicine | Special Issue 1/2010

Excerpt

The PTPN22 gene is an important risk factor for human autoimmunity. Two PTPN22 missense-SNPs, both with functional influence, the R620W (1858C>T, rs2476601) in exon 14 and the R263Q (788G>A, rs33996649) in exon 10 have been associated with autoimmune diseases [1‐4]. …

Stanford SM, Mustelin TM, Bottini N: Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. Semin Immunopathol. 2010, 32 (2): 127-36. 10.1007/s00281-010-0201-4.PubMedCentralCrossRefPubMed

Bottini N: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004, 36 (4): 337-8. 10.1038/ng1323.CrossRefPubMed

Bottini N: Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol. 2006, 18 (4): 207-13. 10.1016/j.smim.2006.03.008.CrossRefPubMed

Orru V: A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet. 2009, 18 (3): 569-79. 10.1093/hmg/ddn363.PubMedCentralCrossRefPubMed

Title: Differential association of two PTPN22 coding variants with Crohn’s disease and ulcerative colitis
Authors: L M Diaz-Gallo
L Espino-Paisán
K Fransen
M Gómez-García
S van Sommeren
C Cardeña
L Rodrigo
J L Mendoza
C Taxonera
A Nieto
G Alcain
I Cueto
M A López-Nevot
N Bottini
M L Barclay
J B Crusius
A A van Bodegraven
C Wijmenga
C Y Ponsioen
R B Gearry
R L Roberts
R K Weersma
E Urcelay
T R Merriman
B Z Alizadeh
J Martin
Publication date: 01-11-2010
Publisher: BioMed Central
Published in: Journal of Translational Medicine / Issue Special Issue 1/2010
Electronic ISSN: 1479-5876
DOI: https://doi.org/10.1186/1479-5876-8-S1-P2

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Differential association of two PTPN22 coding variants with Crohn’s disease and ulcerative colitis

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