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STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients.
PLoS One. 2015; 10(3):e0117389.Plos

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+Show Affiliations

Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.Department of Rheumatology and Immunology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province 210008, China.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25781893

Citation

Fan, Zhi-Dan, et al. "STAT4 Rs7574865 G/T and PTPN22 Rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients." PloS One, vol. 10, no. 3, 2015, pp. e0117389.
Fan ZD, Wang FF, Huang H, et al. STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients. PLoS ONE. 2015;10(3):e0117389.
Fan, Z. D., Wang, F. F., Huang, H., Huang, N., Ma, H. H., Guo, Y. H., Zhang, Y. Y., Qian, X. Q., & Yu, H. G. (2015). STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients. PloS One, 10(3), e0117389. https://doi.org/10.1371/journal.pone.0117389
Fan ZD, et al. STAT4 Rs7574865 G/T and PTPN22 Rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients. PLoS ONE. 2015;10(3):e0117389. PubMed PMID: 25781893.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients. AU - Fan,Zhi-Dan, AU - Wang,Fei-Fei, AU - Huang,Hui, AU - Huang,Na, AU - Ma,Hui-Hui, AU - Guo,Yi-Hong, AU - Zhang,Ya-Yuan, AU - Qian,Xiao-Qing, AU - Yu,Hai-Guo, Y1 - 2015/03/17/ PY - 2014/09/10/received PY - 2014/12/21/accepted PY - 2015/3/18/entrez PY - 2015/3/18/pubmed PY - 2016/2/9/medline SP - e0117389 EP - e0117389 JF - PloS one JO - PLoS ONE VL - 10 IS - 3 N2 - 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. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/25781893/STAT4_rs7574865_G/T_and_PTPN22_rs2488457_G/C_polymorphisms_influence_the_risk_of_developing_juvenile_idiopathic_arthritis_in_Han_Chinese_patients_ L2 - http://dx.plos.org/10.1371/journal.pone.0117389 DB - PRIME DP - Unbound Medicine ER -