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Search: WFRF:(Kwasniewski S.)

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1.
  • Butler-Laporte, G, et al. (author)
  • Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
  • 2022
  • In: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 18:11, s. e1010367-
  • Journal article (peer-reviewed)abstract
    • Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75–10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.
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2.
  • Leu, E., et al. (author)
  • Fatty acid dynamics during the spring bloom in a High Arctic fjord: importance of abiotic factors versus community changes
  • 2006
  • In: Canadian Journal of Fisheries and Aquatic Sciences. - 0706-652X. ; 63:12, s. 2760-2779
  • Journal article (peer-reviewed)abstract
    • We followed the fatty acid composition of particulate organic matter (POM) in a High Arctic fjord (79 degrees N; Svalbard, Norway) during and after the spring bloom. The content of essential polyunsaturated fatty acids (PUFAs) was highest (45% of total fatty acids) at the beginning of the bloom, well before the biomass maximum, and decreased linearly towards the end (30%). During the postbloom period, the concentrations of PUFAs remained stable, between 25% and 30%. Redundancy analysis was used to identify the environmental factors that explained the observed variability in the fatty acid composition of phytoplankton. A particular emphasis was put on the potential influence of high irradiances. During the spring bloom, nutrient availability (Si and N), as well as shifts in phytoplankton community composition and chlorophyll a, were shown to account for much of the pattern in fatty acid composition. During the postbloom period, particularly during periods of stratification, light had a pronounced effect on the fatty acid composition. In general, we found a decrease in the relative amount of PUFAs under high light intensities and nutrient limitation.
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