000 02619na a2200229 4500
003 H12O
005 20180417112623.0
008 130622s2010 xxx||||| |||| 00| 0 eng d
040 _cH12O
041 _aeng
100 _9467
_aCarreira Delgado, Patricia Esmeralda
_eReumatología
245 0 0 _aAnalysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
_h[artículo]
260 _bAnnals of the Rheumatic Diseases,
_c2011
300 _a70(3):454-462
500 _aFormato Vancouver: Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, et al. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis. 2011;70(3):454-62.
501 _aPMID: 21131644
504 _aContiene 44 referencias
520 _aTwo functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity. The aim of this study was to investigate the role of the R263Q SNP for the first time and to re-evaluate the role of the R620W SNP in the genetic predisposition to systemic sclerosis (SSc) susceptibility and clinical phenotypes. METHODS: 3422 SSc patients (2020 with limited cutaneous SSc and 1208 with diffuse cutaneous SSc) and 3638 healthy controls of Caucasian ancestry from an initial case--control set of Spain and seven additional independent replication cohorts were included in our study. Both rs33996649 and rs2476601 PTPN22 polymorphisms were genotyped by TaqMan allelic discrimination assay. A meta-analysis was performed to test the overall effect of these PTPN22 polymorphisms in SSc. RESULTS: The meta-analysis revealed evidence of association of the rs2476601 T allele with SSc susceptibility (p(FDRcorrected)=0.03 pooled, OR 1.15, 95% CI 1.03 to 1.28). In addition, the rs2476601 T allele was significantly associated with anticentromere-positive status (p(FDRcorrected)=0.02 pooled, OR 1.22, 95% CI 1.05 to 1.42). Although the rs33996649 A allele was significantly associated with SSc in the Spanish population (p(FDRcorrected)=0.04, OR 0.58, 95% CI 0.36 to 0.92), this association was not confirmed in the meta-analysis (p=0.36 pooled, OR 0.89, 95% CI 0.72 to 1.1). CONCLUSION: The study suggests that the PTPN22 R620W polymorphism influences SSc genetic susceptibility but the novel R263Q genetic variant does not. These data strengthen evidence that the R620W mutation is a common risk factor in autoimmune diseases.
710 _9123
_aServicio de Reumatología
856 _uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/7/pc7154.pdf
_ySolicitar documento
942 _n0
_2ddc
_cART
999 _c7154
_d7154