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Int J Immunogenet. 2011 Dec;38(6):529-31. doi: 10.1111/j.1744-313X.2011.01038.x. Epub 2011 Sep 19.

The PTPN22*R620W polymorphism does not confer genetic susceptibility to antiphospholipid syndrome in the Spanish population.

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  • 1Vall d'Hebron University Hospital Research Institute, Universitat Autonoma de Barcelona, Barcelona, Spain.

Abstract

In this work, we proposed to determine the association of the PTPN22*R620W SNP with primary antiphospholipid syndrome (PAPS) in a case-control association study of Spanish Caucasian individuals. A total of 81 PAPS patients were compared with 81 blood-donor healthy control subjects. PTPN22 SNP (R620W) genotyping was performed by using a polymerase chain reaction-restricted fragment length polymorphism assay. No statistically significant differences were found between control subjects and PAPS patients for the PTPN22*R620W genotypes (P = 0.214). No statistically significant differences were found according to either the presence or absence of antiphospholipid antibodies or the clinical manifestations associated to PAPS. Our results indicate that this functional PTPN22*R620W polymorphism is not associated to PAPS; it seems not to be a risk factor in our Spanish population. The effect of the PTPN22 SNP on clinical manifestations and presence of antiphospholipid antibodies in APS warrants further investigations.

© 2011 Blackwell Publishing Ltd.

PMID:
21923648
[PubMed - indexed for MEDLINE]
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