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Sökning: WFRF:(White Sue) > (2018)

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1.
  • Lu, Yingchang, et al. (författare)
  • A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
  • 2018
  • Ingår i: Cancer Research. - 0008-5472 .- 1538-7445. ; 78:18, s. 5419-5430
  • Tidskriftsartikel (refereegranskat)abstract
    • .AbstractLarge-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions, and causal genes underlying these associations remain largely unknown. Here, we performed a transcriptome-wide association study to search for novel genetic loci and plausible causal genes at known GWAS loci. We used RNA sequencing data (68 normal ovarian tissue samples from 68 individuals and 6,124 cross-tissue samples from 369 individuals) and high-density genotyping data from European descendants of the Genotype-Tissue Expression (GTEx V6) project to build ovarian and cross-tissue models of genetically regulated expression using elastic net methods. We evaluated 17,121 genes for their cis-predicted gene expression in relation to EOC risk using summary statistics data from GWAS of 97,898 women, including 29,396 EOC cases. With a Bonferroni-corrected significance level of P < 2.2 × 10−6, we identified 35 genes, including FZD4 at 11q14.2 (Z = 5.08, P = 3.83 × 10−7, the cross-tissue model; 1 Mb away from any GWAS-identified EOC risk variant), a potential novel locus for EOC risk. All other 34 significantly associated genes were located within 1 Mb of known GWAS-identified loci, including 23 genes at 6 loci not previously linked to EOC risk. Upon conditioning on nearby known EOC GWAS-identified variants, the associations for 31 genes disappeared and three genes remained (P < 1.47 × 10−3). These data identify one novel locus (FZD4) and 34 genes at 13 known EOC risk loci associated with EOC risk, providing new insights into EOC carcinogenesis.Significance: Transcriptomic analysis of a large cohort confirms earlier GWAS loci and reveals FZD4 as a novel locus associated with EOC risk. Cancer Res; 78(18); 5419–30. ©2018 AACR.
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2.
  • Nygren, Lennart, et al. (författare)
  • Investigating welfare regime typologies : Paradoxes, pitfalls and potentialities in comparative social work research
  • 2018
  • Ingår i: Social Policy and Society. - : Cambridge University Press. - 1474-7464 .- 1475-3073. ; 17:4, s. 665-677
  • Tidskriftsartikel (refereegranskat)abstract
    • The article reviews the relevance and methodological utility of welfare regime typologies for the study of professional sense-making in social work with families. Focus groups were carried out with social workers in European and Latin American countries representing four different policy regimes. A case vignette was used to elicit social workers’ descriptions of how welfare policy may influence how they understand their work task and the notion of family. The research team identified methodological challenges of general relevance in similar policy-practice studies. There were paradoxes in terms of homogeneity on the regime level vs. heterogeneity within and between national services. Pitfalls appeared in the selection of regime-typical cases, language/cultural barriers, and in deciding organisational level. The article shows that welfare typologies have potentialities in that they may provide a helpful analytical basis for theoretical and practical reasoning in which syntheses between policy and practice can be explored, discussed and challenged.
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