| 1. |
- Cruz, Raquel, et al.
(författare)
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Novel genes and sex differences in COVID-19 severity
- 2022
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
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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. |
- Taiebi, Julien, et al.
(författare)
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Studies on Fission with Aladin
- 2018
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Ingår i: FISSION AND PROPERTIES OF NEUTRON-RICH NUCLEI. - 9789813229426 ; , s. 339-340
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Konferensbidrag (refereegranskat)
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| 3. |
- Fernández-Gago, Rocío, et al.
(författare)
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Thawing boar semen in the presence of seminal plasma improves motility, modifies subpopulation patterns and reduces chromatin alterations.
- 2017
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Ingår i: Reproduction, fertility, and development. - : CSIRO PUBLISHING. - 1031-3613. ; 29:8, s. 1576-1584
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Tidskriftsartikel (refereegranskat)abstract
- Seminal plasma could have positive effects on boar semen after thawing. In the present study we investigated changes in the motility and chromatin structure in spermatozoa over 4h incubation (37°C) of boar semen thawed in the presence of 0%, 10% or 50% seminal plasma from good-fertility boars. Cryopreserved doses were used from seven males, three of which were identified as susceptible to post-thawing chromatin alterations. Motility was analysed by computer-aided sperm analysis every hour, and data were used in a two-step clustering, yielding three subpopulations of spermatozoa (slow non-linear, fast non-linear, fast linear). Chromatin structure was analysed using a sperm chromatin structure assay and flow cytometry to determine the DNA fragmentation index (%DFI) as a percentage, the standard deviation of the DFI (SD-DFI) and the percentage of high DNA stainability (%HDS), indicating chromatin compaction. Thawing without seminal plasma resulted in a rapid loss of motility, whereas seminal plasma helped maintain motility throughout the incubation period and preserved the subpopulation comprising fast and linear spermatozoa. The incidence of chromatin alterations was very low in samples from non-susceptible males, whereas samples from males susceptible to post-thawing chromatin alterations exhibited marked alterations in%DFI and%HDS. Seminal plasma partly prevented these alterations in samples from susceptible males. Overall, 50% seminal plasma was the most efficient concentration to protect motility and chromatin. Some changes were concomitant with physiological events reported previously (e.g., semen thawed with 50% seminal plasma increased the production of reactive oxygen species and yielded higher fertility after AI). Thawing in the presence of seminal plasma could be particularly useful in the case of samples susceptible to post-thawing chromatin damage.
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| 4. |
- Vicente‑Serrano, Sergio M., et al.
(författare)
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Influence of the interannual variability of meteorological drought on the cross-interactions of ecological and hydrological drought in the central Spanish Pyrenees
- 2023
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Ingår i: GeoFocus. - 1578-5157. ; 31, s. 55-85
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Tidskriftsartikel (refereegranskat)abstract
- This paper analyzes the influence of the interannual variability of climatic drought on ecological and hydrological droughts for a basin in the central Spanish Pyrenees using variables derived from observations and hydro-ecological simulation in order to determine the possible connection between meteorological, ecological and hydrological drought considering a cascading approach and encompassing different variables that give insights into water availability in the basin (e.g., soil moisture, streamflow, reservoir storages and releases). Using different climatic, ecological and hydrological standardized drought indices, we show the greater role of meteorological droughts in hydrological systems than in ecological systems, and the small influence of vegetation activity and growth in explaining the interannual variability of water resources in the basin. By contrast,hydrological droughts are strongly affected by precipitation variability with relationships characterized by seasonal differences and the role of different time-scales in the standardized drought metrics.
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