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PTPN22 620W allele is not associated with aplastic anemia.

Graf SA, Calado RT, Young NS

Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.

The 1858C/T variant in PTPN22 imparts a gain of function mutation dysregulating T-cell stimulation and is associated with an array of autoimmune diseases. Using a case-control design, we compared the frequency of this polymorphism in 91 patients with acquired aplastic anemia to 132 ethnically matched controls. Representation of the PTPN22 variant was not significantly different between the two populations, suggesting that this gene polymorphism does not contribute to the etiology of aplastic anemia. Aplastic anemia thus joins a list of autoimmune diseases that commonly lack a major humoral disease component and do not associate with the PTPN22 variant.

Published 21 March 2007 in Am J Hematol, 82(4): 291-2.
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