A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus

A gain-of-function R620W polymorphism in the PTPN22 gene, encoding the lymphoid tyrosine phosphatase LYP, has recently emerged as an important risk factor for human autoimmunity. Here we report that another missense substitution (R263Q) within the catalytic domain of LYP leads to reduced phosphatase...

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Κύριοι συγγραφείς: Orrú, Valeria, Tsai, Sophia J., Rueda, Blanca, Fiorillo, Edoardo, Stanford, Stephanie M., Dasgupta, Jhimli, Hartiala, Jaana, Zhao, Lei, Ortego-Centeno, Norberto, D’Alfonso, Sandra, Arnett, Frank C., Wu, Hui, Gonzalez-Gay, Miguel A., Tsao, Betty P., Pons-Estel, Bernardo, Alarcon-Riquelme, Marta E., He, Yantao, Zhang, Zhong-Yin, Allayee, Hooman, Chen, Xiaojiang S., Martin, Javier, Bottini, Nunzio
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2009
Θέματα:
Association Studies Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722189/
https://ncbi.nlm.nih.gov/pubmed/18981062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn363
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