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Juvenile idiopathic arthritis (JIA) is a common autoimmune disease characterized by environmental influences along with several predisposing genes in the pathogenesis. The protein tyrosine phosphatase nonreceptor 22 ( PTPN22 ) and signal transducer and activator of transcription factor 4 ( STAT4 ) have been recognized as susceptibility genes for numerous autoimmune diseases. Associations of  STAT4  rs7574865 G/T and  PTPN22  (rs2488457 G/C and rs2476601 C/T) polymorphisms with JIA have repeatedly been replicated in several Caucasian populations. The aim of this study was to investigate the influence of three polymorphisms mentioned above on the risk of developing JIA in Han Chinese patients. Genotyping was performed on a total of 137 Chinese patients with JIA (JIA group) and 150 sex and age frequency-matched healthy volunteers (Control group). The single-nucleotide polymorphisms (SNP) were determined by using direct sequencing of PCR-amplified products. There were significant differences of  PTPN22  rs2488457 G/C and  STAT4  rs7574865 G/T polymorphisms between both groups. However, no significant difference was observed in distribution frequencies of  PTPN22  rs2476601 polymorphism. The association with the  PTPN22  rs2488457 G/C polymorphism remained significant in the stratifications by age at onset, ANA status, splenomegaly, lymphadenectasis and involvement joints. As with the  STAT4  rs7574865 G/T polymorphisms, the enthesitis-related arthritis and presence of hepatomegaly had strong effect on the association. Our data strengthen  STAT4  rs7574865 G/T and  PTPN22  rs2488457 G/C polymorphisms as susceptibility factors for JIA.

STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients