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Träfflista för sökning "WFRF:(Montgomery P) srt2:(2020-2024)"

Search: WFRF:(Montgomery P) > (2020-2024)

  • Result 11-20 of 53
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  • Kousathanas, A, et al. (author)
  • Whole-genome sequencing reveals host factors underlying critical COVID-19
  • 2022
  • In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 607:7917, s. 97-
  • Journal article (peer-reviewed)abstract
    • Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease.
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  • Jang, Seon-Kyeong, et al. (author)
  • Rare genetic variants explain missing heritability in smoking.
  • 2022
  • In: Nature human behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 6:11, s. 1577-1586
  • Journal article (peer-reviewed)abstract
    • Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this 'missing heritability'. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four smoking traits, single-nucleotide-polymorphism-based heritability ([Formula: see text]) was estimated from 0.13 to 0.28 (s.e., 0.10-0.13) in European ancestries, with 35-74% of it attributable to rare variants with minor allele frequencies between 0.01% and 1%. These heritability estimates are 1.5-4 times higher than past estimates based on common variants alone and accounted for 60% to 100% of our pedigree-based estimates of narrow-sense heritability ([Formula: see text], 0.18-0.34). In the African ancestry samples, [Formula: see text] was estimated from 0.03 to 0.33 (s.e., 0.09-0.14) across the four smoking traits. These results suggest that rare variants are important contributors to the heritability of smoking.
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  • Result 11-20 of 53
Type of publication
journal article (39)
conference paper (8)
research review (5)
book chapter (1)
Type of content
peer-reviewed (44)
other academic/artistic (9)
Author/Editor
Montgomery, GW (13)
Martin, NG (13)
Stefansson, K (13)
Hayward, C. (12)
Esko, T (11)
Willemsen, G (8)
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Metspalu, A (8)
Milaneschi, Y (7)
Teumer, A (7)
Lucae, S (7)
Montgomery, Scott, 1 ... (7)
Mbarek, H (6)
Hottenga, JJ (6)
Penninx, BWJH (6)
Yang, J. (6)
Breen, G (6)
Rujescu, D (6)
Werge, T (6)
Mattheisen, M (6)
Cichon, S (6)
Muller-Myhsok, B (6)
Nauck, M (6)
Ripke, S (6)
Campbell, A (6)
Grove, J (6)
Wilson, JF (6)
Herms, S. (6)
Stefansson, H. (6)
Kamatani, Y (6)
Bryois, J (6)
McGuffin, P (6)
Wu, Y. (5)
Steinberg, S (5)
Kaprio, J (5)
Hillert, J (5)
Boomsma, DI (5)
Fontanillas, P (5)
Pedersen, NL (5)
Hoffmann, P (5)
Alfredsson, L (5)
Rietschel, M (5)
Uitterlinden, AG (5)
Medland, SE (5)
Degenhardt, F (5)
Kutalik, Z. (5)
Streit, F (5)
Frank, J (5)
Gordon, SD (5)
Ising, M (5)
Maier, W (5)
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University
Karolinska Institutet (32)
Lund University (15)
University of Gothenburg (9)
Umeå University (7)
Örebro University (7)
Uppsala University (6)
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Jönköping University (3)
Luleå University of Technology (2)
Linköping University (2)
University of Skövde (2)
Halmstad University (1)
Stockholm University (1)
Chalmers University of Technology (1)
Karlstad University (1)
Högskolan Dalarna (1)
Swedish University of Agricultural Sciences (1)
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Language
English (53)
Research subject (UKÄ/SCB)
Medical and Health Sciences (31)
Natural sciences (6)
Social Sciences (1)

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