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Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete

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dc.contributor.author Eliopoulos, E en
dc.contributor.author Zervou, MI en
dc.contributor.author Andreou, A en
dc.contributor.author Dimopoulou, K en
dc.contributor.author Cosmidis, N en
dc.contributor.author Voloudakis, G en
dc.contributor.author Mysirlaki, H en
dc.contributor.author Vazgiourakis, V en
dc.contributor.author Sidiropoulos, P en
dc.contributor.author Niewold, TB en
dc.contributor.author Boumpas, DT en
dc.contributor.author Goulielmos, GN en
dc.date.accessioned 2014-06-06T06:51:12Z
dc.date.available 2014-06-06T06:51:12Z
dc.date.issued 2011 en
dc.identifier.issn 09612033 en
dc.identifier.uri http://dx.doi.org/10.1177/0961203310392423 en
dc.identifier.uri http://62.217.125.90/xmlui/handle/123456789/5384
dc.subject polymorphism en
dc.subject PTPN22 gene en
dc.subject rheumatoid arthritis en
dc.subject systemic lupus erythematosus en
dc.subject.other non receptor protein tyrosine phosphatase 22 en
dc.subject.other adult en
dc.subject.other allele en
dc.subject.other article en
dc.subject.other controlled study en
dc.subject.other correlation analysis en
dc.subject.other down regulation en
dc.subject.other female en
dc.subject.other gene frequency en
dc.subject.other gene locus en
dc.subject.other genetic polymorphism en
dc.subject.other genetic risk en
dc.subject.other genetic susceptibility en
dc.subject.other Greece en
dc.subject.other human en
dc.subject.other major clinical study en
dc.subject.other male en
dc.subject.other population research en
dc.subject.other priority journal en
dc.subject.other rheumatoid arthritis en
dc.subject.other risk factor en
dc.subject.other single nucleotide polymorphism en
dc.subject.other systemic lupus erythematosus en
dc.subject.other T lymphocyte activation en
dc.subject.other Adult en
dc.subject.other Arthritis, Rheumatoid en
dc.subject.other Case-Control Studies en
dc.subject.other Female en
dc.subject.other Genetic Predisposition to Disease en
dc.subject.other Greece en
dc.subject.other Humans en
dc.subject.other Lupus Erythematosus, Systemic en
dc.subject.other Male en
dc.subject.other Middle Aged en
dc.subject.other Polymorphism, Single Nucleotide en
dc.subject.other Protein Tyrosine Phosphatase, Non-Receptor Type 22 en
dc.title Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete en
heal.type journalArticle en
heal.identifier.primary 10.1177/0961203310392423 en
heal.publicationDate 2011 en
heal.abstract Autoimmune diseases affect approximately 5% of the population, but much work remains to define the genetic risk factors and pathogenic mechanisms underlying these conditions. There is accumulating evidence that common genetic factors might predispose to multiple autoimmune disorders. Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune disorders with multiple susceptibility genes. The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, a member of the PTPs that negatively regulate T-cell activation, has been recently associated with susceptibility to various autoimmune diseases. The aim of this study was to assess whether the C1858T polymorphism of PTPN22 also confers increased risk for SLE and RA in the genetically homogeneous population of Crete. It was found that the minor T allele of the PTPN22 C1858T SNP was more common in SLE patients than in control individuals (odds ratio [OR]-=-1.91, 95% confidence interval [CI]-=-1.11 to 3.9, p-=-0.017). No significant difference was observed in the frequency of this allele when RA patients were compared with controls (OR-=-1.14, 95% CI-=-0.65 to 1.9, p-=-0.64). Although the PTPN22 1858-T allele is found at decreased frequency in Southern Europe, including Crete, an association was found between this allele and SLE in the population studied. © The Author(s), 2011. en
heal.journalName Lupus en
dc.identifier.issue 5 en
dc.identifier.volume 20 en
dc.identifier.doi 10.1177/0961203310392423 en
dc.identifier.spage 501 en
dc.identifier.epage 506 en


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