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Sökning: WFRF:(Escudero Alejandro)

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  • Oparina, Nina Y., et al. (författare)
  • PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6
  • 2015
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ Publishing Group. - 1468-2060 .- 0003-4967. ; 74:3, s. 14-14
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease. Methods Linkage disequilibrium (LD) mapping was conducted by using 1251 SNPs (single nucleotide polymorphism) covering a 862 kb genomic region on 3p14.3 comprising the PXK locus in 1467 SLE patients and 2377 controls of European origin. Tag SNPs and genotypes imputed with IMPUTE2 were tested for association by using SNPTEST and PLINK. The expression QTLs data included three independent datasets for lymphoblastoid cells of European donors: HapMap3, MuTHER and the cross-platform eQTL catalogue. Correlation analysis of eQTLs was performed using Vassarstats. Alternative splicing for the PXK gene was analysed on mRNA from PBMCs. Results Fine mapping revealed long-range LD (>200 kb) extended over the ABHD6, RPP14, PXK, and PDHB genes on 3p14.3. The highly correlated variants tagged an SLE-associated haplotype that was less frequent in the patients compared with the controls (OR=0.89, p=0.00684). A robust correlation between the association with SLE and enhanced expression of ABHD6 gene was revealed, while neither expression, nor splicing alterations associated with SLE susceptibility were detected for PXK. The SNP allele frequencies as well as eQTL pattern analysed in the CEU and CHB HapMap3 populations indicate that the SLE association and the effect on ABHD6 expression are specific to Europeans. Conclusions These results confirm the genetic association of the locus 3p14.3 with SLE in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region. We suggest a pathogenic mechanism mediated by the upregulation of ABHD6 in individuals carrying the SLE-risk variants.
  • Caliz, Rafael, et al. (författare)
  • Gender-Specific Effects of Genetic Variants within Th1 and Th17 Cell-Mediated Immune Response Genes on the Risk of Developing Rheumatoid Arthritis
  • 2013
  • Ingår i: PLoS ONE. - : Public Library of Science. - 1932-6203. ; 8:8
  • Tidskriftsartikel (refereegranskat)abstract
    • The present study was conducted to explore whether single nucleotide polymorphisms (SNPs) in Th1 and Th17 cell-mediated immune response genes differentially influence the risk of rheumatoid arthritis (RA) in women and men. In phase one, 27 functional/tagging polymorphisms in C-type lectins and MCP-1/CCR2 axis were genotyped in 458 RA patients and 512 controls. Carriers of Dectin-2(rs4264222T) allele had an increased risk of RA (OR = 1.47, 95% CI 1.10-1.96) whereas patients harboring the DC-SIGN(rs4804803G), MCP-1(rs1024611G), MCP-1(rs13900T) and MCP-1(rs4586C) alleles had a decreased risk of developing the disease (OR = 0.66, 95% CI 0.49-0.88; OR = 0.66, 95% CI 0.50-0.89; OR = 0.73, 95% CI 0.55-0.97 and OR = 0.68, 95% CI 0.51-0.91). Interestingly, significant gender-specific differences were observed for Dectin-2(rs4264222) and Dectin-2(rs7134303): women carrying the Dectin-2(rs4264222T) and Dectin-2(rs7134303G) alleles had an increased risk of RA (OR = 1.93, 95% CI 1.34-2.79 and OR = 1.90, 95% CI 1.29-2.80). Also five other SNPs showed significant associations only with one gender: women carrying the MCP-1(rs1024611G), MCP-1(rs13900T) and MCP-1(rs4586C) alleles had a decreased risk of RA (OR = 0.61, 95% CI 0.43-0.87; OR = 0.67, 95% CI 0.47-0.95 and OR = 0.60, 95% CI 0.42-0.86). In men, carriers of the DC-SIGN(rs2287886A) allele had an increased risk of RA (OR = 1.70, 95% CI 1.03-2.78), whereas carriers of the DC-SIGN(rs4804803G) had a decreased risk of developing the disease (OR = 0.53, 95% CI 0.32-0.89). In phase 2, we genotyped these SNPs in 754 RA patients and 519 controls, leading to consistent gender-specific associations for Dectin-2(rs4264222), MCP-1(rs1024611), MCP-1(rs13900) and DC-SIGN(rs4804803) polymorphisms in the pooled sample (OR = 1.38, 95% CI 1.08-1.77; OR = 0.74, 95% CI 0.58-0.94; OR = 0.76, 95% CI 0.59-0.97 and OR = 0.56, 95% CI 0.34-0.93). SNP-SNP interaction analysis of significant SNPs also showed a significant two-locus interaction model in women that was not seen in men. This model consisted of Dectin-2(rs4264222) and Dectin-2(rs7134303) SNPs and suggested a synergistic effect between the variants. These findings suggest that Dectin-2, MCP-1 and DC-SIGN polymorphisms may, at least in part, account for gender-associated differences in susceptibility to RA.
  • Stamatiu-Sanchez, Katina, et al. (författare)
  • Tolerancia de hongos filamentosos a endosulfán, clorpirifós y clorotalonil en condiciones in vitro : [Tolerance of filamentous fungi to endosulfan, chlorpyrifos and chlorothalonil in in vitro conditions]
  • 2014
  • Ingår i: Revista Internacional de Contaminación Ambiental. - 0188-4999. ; 31:1, s. 23-37
  • Tidskriftsartikel (refereegranskat)abstract
    • Endosulfan (EN), chlorpyrifos (CRP) and chlorothalonil (CTL) are carcinogenic and toxic pesticides in the environment, by which bioremediation efficient actions must be directed for detoxifying contaminated systems. Fungi such as Phanerochaete chrysosporium (PC), Trametes versicolor (TV) and some species of Trichoderma (TRI), Mucor, Fusarium and Penicillium are able to degrade pesticides. Seven fungal strains were isolated from agricultural soil, wheat straw, and wheat straw pieces. The seven fungal strains as well as three referential fungi (PC, TV and TRI) were cultivated by triplicate in Petri dishes with minimal mineral medium contaminated with increased doses of EN, CRP or CTL for 18 days. The mycelial growth (MG) and the percentage of growth inhibition (PGI) were determined. The three pesticides negatively affected the MG, but the fungal recovery was observed after 72 h for EN and CRP. At 18 days, strains K14S, PC, TV and TRI showed total recovery when exposed to EN. In contrast, all fungal strains showed a recovery to CRP at the 10th day. The MG for most fungal strains was significantly inhibited (P < 0.0001) due to during CTL at 18 days. The fungicide CTL resulted in highest PGI, but strains K8S, K14S, K11TP, PC and TV were less affected. The fungal strains K12P, K8S, K14S, and K11TP showed acceptable tolerance to the three pesticides comparable to PC, TV and TRI. These four fungal strains are good candidates for being used for pesticide bioremediation.
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