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A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus
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2009 (English)In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 18, no 3, 569-579 p.Article in journal (Refereed) Published
Abstract [en]

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 activity. High-resolution structural analysis revealed the molecular basis for this loss of function. Furthermore, the Q263 variant conferred protection against human systemic lupus erythematosus, reinforcing the proposal that inhibition of LYP activity could be beneficial in human autoimmunity.

Place, publisher, year, edition, pages
2009. Vol. 18, no 3, 569-579 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-102305DOI: 10.1093/hmg/ddn363ISI: 000262519300016PubMedID: 18981062OAI: oai:DiVA.org:uu-102305DiVA: diva2:214618
Available from: 2009-05-06 Created: 2009-05-06 Last updated: 2010-12-15Bibliographically approved

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Alarcon-Riquelme, Marta E.

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