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Primary immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterized by autoantibody-mediated platelet destruction. Multiple factors have been implicated in ITP pathogenesis, including T-lymphocyte dysfunctions. The protein tyrosine phosphatase, non-receptor type 22 ( PTPN22) gene encodes lymphoid-specific phosphatase (LYP), a critical negative regulator of T cell activation. Single nucleotide polymorphisms (SNPs) of PTPN22 have been broadly associated with susceptibilities to various autoimmune disorders. Here we conducted a case-control study investigating whether the PTPN22 -1123G > C SNP contributes to the risk of ITP in Chinese population. The study included 191 ITP cases and 216 ethnically matched normal controls. Genotyping of -1123G > C SNP was performed using a single-base extension (SBE) and mass spectrometry method. Allelic and genotypic frequencies were compared between the case-control groups by the chi-square test. We observed significant overrepresentation of -1123G allele ( p = 0.034, odds ratio (OR) = 1.374, 95% confidence interval (CI) [1.024-1.843]) and GG genotype ( P = 0.038, OR = 1.951, 95% CI [1.031-3.694]) in the patients compared with the controls. Stratified analysis by gender and age of disease onset revealed comparable observations in both male and adult ITP cohorts. These data suggest a moderate association of PTPN22 -1123G > C SNP with susceptibility to ITP. Together with previous reports, our finding provides further evidence for PTPN22 being a general autoimmunity gene. [ABSTRACT FROM AUTHOR]

Idiopathic thrombocytopenic purpura (ITP) is an acquired organ-specific autoimmune hemorrhagic disease with many immune dysfunctions. Cytotoxic T lymphocyte antigen 4 (CTLA-4) is a T-lymphocyte surface molecule that can down modulate and terminate immune responses. Recently, several studies have confirmed that some polymorphisms of this gene can influence its expression level, therefore speculating that they might be associated with autoimmune diseases. In order to investigate the role of the CTLA-4 gene in ITP, we investigated -318 and CT60 polymorphisms of the CTLA-4 gene in 186 ITP patients and 162 healthy controls through polymerase chain reaction (PCR)-restriction fragment length polymorphism. No significant differences were revealed in genotypes and allele distributions between the patients with ITP and the controls in both sites. Similar results were observed between the two groups when stratified by first onset age and disease course including acute childhood, chronic childhood, acute adult, and chronic adult. In the conclusion, these two single-nucleotide polymorphisms in CTLA-4 are not associated with susceptibility to ITP in a Chinese population. [ABSTRACT FROM AUTHOR]