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Träfflista för sökning "WFRF:(Lopez Oscar L.) "

Sökning: WFRF:(Lopez Oscar L.)

  • Resultat 21-23 av 23
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21.
  • Conceptual Modeling : Proceedings
  • 2015
  • Proceedings (redaktörskap) (refereegranskat)abstract
    • This book constitutes the refereed proceedings of the 34th International Conference on Conceptual Modeling, ER 2015, held in Stockholm, Sweden, in October 2015. The 26 full and 19 short papers presented were carefully reviewed and selected from 131 submissions. The papers are organized in topical sections on business process and goal models, ontology-based models and ontology patterns, constraints, normalization, interoperability and integration, collaborative modeling, variability and uncertainty modeling, modeling and visualization of user generated content, schema discovery and evolution, process and text mining, domain-based modeling, data models and semantics, and applications of conceptual modeling.
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22.
  • Evangelou, Evangelos, et al. (författare)
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
  • 2018
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:10, s. 1412-1425
  • Tidskriftsartikel (refereegranskat)abstract
    • High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
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23.
  • Matuozzo, Daniela, et al. (författare)
  • Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
  • 2023
  • Ingår i: Genome medicine. - 1756-994X. ; 15:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases.We report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.No gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P = 1.1 × 10-4) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR = 3.70[95%CI 1.3-8.2], P = 2.1 × 10-4). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR = 19.65[95%CI 2.1-2635.4], P = 3.4 × 10-3), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR = 4.40[9%CI 2.3-8.4], P = 7.7 × 10-8). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD] = 43.3 [20.3] years) than the other patients (56.0 [17.3] years; P = 1.68 × 10-5).Rare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old.
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  • Resultat 21-23 av 23
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Lopez, Oscar L. (9)
Hofman, Albert (8)
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