title: STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients.
abstract: 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.
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Zhi-Dan
authors.initials: ZD
authors.lastname: Fan
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Fei-Fei
authors.initials: FF
authors.lastname: Wang
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Huang
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Na
authors.initials: N
authors.lastname: Huang
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Hui-Hui
authors.initials: HH
authors.lastname: Ma
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Yi-Hong
authors.initials: YH
authors.lastname: Guo
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Ya-Yuan
authors.initials: YY
authors.lastname: Zhang
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Xiao-Qing
authors.initials: XQ
authors.lastname: Qian
authors.affiliation: Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.
authors.forename: Hai-Guo
authors.initials: HG
authors.lastname: Yu
mesh_terms: D000293:Adolescent; D000483:Alleles; D001171:Arthritis, Juvenile / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D050797:STAT4 Transcription Factor / Q000235:genetics*
chemical_list: D050797:STAT4 Transcription Factor; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22