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1.
  • Cruz, Raquel, et al. (författare)
  • Novel genes and sex differences in COVID-19 severity
  • 2022
  • Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
  • Tidskriftsartikel (refereegranskat)abstract
    • Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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2.
  • Ortiz Fernandez, Leire, et al. (författare)
  • Exploring attitudes towards use of technology to support stroke survivors living at home: A quantitative and qualitative content analysis study in Spain
  • 2021
  • Ingår i: Journal of Rehabilitation and Assistive Technologies Engineering. - : SAGE Publications. - 2055-6683. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • PurposeThe aim of this study was to better understand the attitudes towards the use of technology to support chronic stroke survivors in a home-based setting.MethodsA quantitative study was used on the data obtained from a face to face survey with the sample group, incorporating quantitative statistical analysis.ResultsParticipants reported positive attitudes towards using technology for their own independent health management. The purpose of the home-based technology was different: source of information, supporting self-management, pharmacological treatment reminders… and differed according to age, educational level and survivor disability. Installing devices and sharing information remains a challenge.Conclusions100% of stroke survivors living in the community with any type of disability, reported that they would like to use technology as a tool to help improve their health status.
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