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Träfflista för sökning "WFRF:(Löfgren Sara E.) ;pers:(Alarcón Riquelme Marta E.)"

Sökning: WFRF:(Löfgren Sara E.) > Alarcón Riquelme Marta E.

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1.
  • Löfgren, Sara E., et al. (författare)
  • A 3 '-Untranslated Region Variant Is Associated With Impaired Expression of CD226 in T and Natural Killer T Cells and Is Associated With Susceptibility to Systemic Lupus Erythematosus
  • 2010
  • Ingår i: Arthritis and Rheumatism. - : Wiley. - 0004-3591 .- 1529-0131. ; 62:11, s. 3404-3414
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective. Costimulatory receptor CD226 plays an important role in T cell activation, differentiation, and cytotoxicity. This study was undertaken to investigate the genetic association of CD226 with susceptibility to systemic lupus erythematosus (SLE) and to assess the functional implications of this association. Methods. Twelve tag single-nucleotide polymorphisms (SNPs) in CD226 were typed in 1,163 SLE patients and 1,482 healthy control subjects from Europe or of European ancestry. Analyses of association were performed by single-marker Cochran-Mantel-Haenszel meta-analysis, followed by haplotype analysis. Gene expression was analyzed by quantitative real-time polymerase chain reaction analyses of RNA from peripheral blood mononuclear cells, and by fluorescence-activated cell sorter analysis. To study the functional impact of the associated variants, luciferase reporter constructs containing different portions of the 3'-untranslated region (3'-UTR) of the gene were prepared and used in transfection experiments. Results. A 3-variant haplotype, rs763361; rs34794968; rs727088 (ATC), in the last exon of CD226 was associated with SLE (P = 1.3 x 10(-4), odds ratio 1.24, 95% confidence interval 1.11-1.38). This risk haplotype correlated with low CD226 transcript expression and low CD226 protein levels on the surface of CD4+ and CD8+ T cells and natural killer T (NKT) cells. NK cells expressed high levels of CD226, but this expression was independent of the haplotype. Reporter assays with deletion constructs indicated that only the presence of rs727088 could account for the differences in the levels of luciferase transcripts. Conclusion. This study identified an association of CD226 with SLE in individuals of European ancestry. These data support the importance of the 3'-UTR SNP rs727088 in the regulation of CD226 transcription both in T cells and in NKT cells.
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2.
  • Löfgren, Sara E, et al. (författare)
  • Estrogen-dependent upregulation of IRF5 in human immune cells
  • Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
    • Objective: To contribute to the knowledge of the mechanisms behind the strong sex-biased prevalence of SLE, we investigated the role of estrogen on the expression of one of the strongest associated gene with SLE, the interferon regulatory factor 5 (IRF5), in human immune cells. Material and methods:  IRF5, as well as IRF3, IRF4, IRF7 and IRF9 expression was measured in PBMCs, LCLs, monocytes and macrophages from both male and female origin. Cells were treated with different concentrations of estrogen and gene expression was measured by quantitative RT-PCR. Results: We found that the initial levels of IRF5 in PBMC were almost 2-fold higher in women than men, although not reaching statistical significance. After 12 h in culture the IRF5 levels became roughly equal in both sexes, and further stimulation with estrogen lead to up-regulation of IRF5 expression in both PBMCs and monocytes in both women and men. No difference was seen for IRF3, IRF4, IRF7 and IRF9 expression, and no gene was up-regulated in LCLs, upon estrogen treatment, regardless of the gender. Conclusions: We showed that in human PBMCs and monocytes from healthy individuals IRF5 expression can be regulated by exogenous estrogen. This feature might be specific to IRF5 since four other IRF genes tested did not show any up-regulation in these cells.
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3.
  • Löfgren, Sara E., et al. (författare)
  • Promoter Insertion/Deletion in the IRF5 Gene Is Highly Associated with Susceptibility to Systemic Lupus Erythematosus in Distinct Populations, But Exerts a Modest Effect on Gene Expression in Peripheral Blood Mononuclear Cells
  • 2010
  • Ingår i: Journal of Rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 37:3, s. 574-578
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective. We examined the genetic association of the promoter insertion/deletion (indel) in IRF5 gene with systemic lupus erythematosus (SLE) in distinct populations and assessed its role in gene expression. Methods. Four IRF5 polymorphisms were genotyped in 1488 SLE patients and 1466 controls. Gene expression was analyzed by quantitative real-time PCR using RNA from peripheral blood mononuclear cells (PBMC). Results. The promoter indel and rs2070197 had independent genetic effects, which accounted for the association of rs2004640 and rs10954213. Gene expression analysis revealed that rs10954213 exerted the greatest influence on IRF5 transcript levels. Conclusion. We corroborated the association of the promoter indel with SLE in 5 different populations and revealed that rs10954213 is the main single-nucleotide polymorphism responsible for altered IRF5 expression in PBMC.
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4.
  • Delgado-Vega, Angelica, et al. (författare)
  • Recent findings on genetics of systemic autoimmune diseases
  • 2010
  • Ingår i: Current Opinion in Immunology. - : Elsevier BV. - 0952-7915 .- 1879-0372. ; 22:6, s. 698-705
  • Forskningsöversikt (refereegranskat)abstract
    • Association studies of over 1 million SNPs capturing most of the human genome common variation became possible thanks to the information provided by the HapMap International project and the development of high-throughput genotyping technologies at accessible prices. Genome-wide scans analyzing thousands of individuals have now identified most if not all of the major genes involved in susceptibility for several systemic autoimmune diseases. In particular, results for rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) are reviewed here. While most genes are shared between diseases, few seem to be unique reflecting that we still are long before knowing all genes, their interactions with other genes and the environment and their impact on biological functions.
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  • Resultat 1-4 av 4

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