Premium
The PTPN22*R620W polymorphism does not confer genetic susceptibility to antiphospholipid syndrome in the Spanish population
Author(s) -
CastroMarrero J.,
Balada E.,
VilardellTarrés M.,
OrdiRos J.
Publication year - 2011
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2011.01038.x
Subject(s) - ptpn22 , genotyping , genotype , snp , medicine , antiphospholipid syndrome , immunology , antibody , biology , genetics , single nucleotide polymorphism , gene
Summary 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.