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A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
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Analysis of Class II human leucocyte antigens in Italian and Spanish systemic sclerosis
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Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression
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Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
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Abstract:
OBJECTIVE: Two 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
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Keyword:
Settore MED/09 - Medicina Interna
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URL: http://hdl.handle.net/2434/169467
https://doi.org/10.1136/ard.2010.130138
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Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis
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Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy
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A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
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Two cultures-one need: merging dialogue forms and the development and promulgation of policy
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In: Indigenous Policy and Dialogue: New Relationships, New Possibilities, the National Policy and Dialogue Conference, Sydney, Australia, 18-19 November 2010 (2010)
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| 11 |
Ann. of Dyslexia DOI 10.1007/s11881-010-0043-8 Reading in French-speaking adults with dyslexia
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In: http://lpp.psycho.univ-paris5.fr/pdf/2841.pdf (2009)
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The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
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Brainstem and Forebrain Contributions to the Generation of Learned Motor Behaviors for Song
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| 14 |
40th EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004.
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Vers un retour à une lecture non linéaire
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In: Premier colloque franco-mexicain de sciences de la communication ; https://edutice.archives-ouvertes.fr/edutice-00000364 ; Premier colloque franco-mexicain de sciences de la communication, Apr 2002, Mexico, France ; http://www.cerimes.education.fr/colloquefrancomexicain/ (2002)
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A communication model based on the 2-tuple fuzzy linguistic representation for a distributed intelligent agent system on Internet, Soft Comput. 6
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In: http://sci2s.ugr.es/publications/ficheros/SC-2002-v6-5-320-328.pdf (2002)
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Somatosensory feedback modulates the respiratory motor program of crystallized birdsong
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Phonological short-term memory and vocabulary development: further evidence on the nature of the relationship
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In: http://www.york.ac.uk/res/wml/gathercole, service, hitch (1999).pdf (1999)
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Combining Linguistic Information in a Distributed Intelligent Agent Model for Information Gathering on the Internet
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In: ftp://decsai.ugr.es/pub/arai/tech_rep/decision/libroWAN.ps.Z (1997)
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