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  • 1
    Online Resource
    Online Resource
    Mapping the human genetic architecture of COVID-19
    Springer Science and Business Media LLC ; 2021
    In:  Nature Vol. 600, No. 7889 ( 2021-12-16), p. 472-477
    Details
    In: Nature, Springer Science and Business Media LLC, Vol. 600, No. 7889 ( 2021-12-16), p. 472-477
    Abstract: The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-19 1,2 , host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases 3–7 . They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease.
    Type of Medium: Online Resource
    ISSN: 0028-0836 , 1476-4687
    URL: Article
    DOI: 10.1038/s41586-021-03767-x
    RVK:
    TA 1000
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    UA 1000
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    WA 15000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 120714-3
    detail.hit.zdb_id: 1413423-8
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  • 2
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    GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
    Springer Science and Business Media LLC ; 2023
    In:  Nature Vol. 617, No. 7962 ( 2023-05-25), p. 764-768
    Details
    In: Nature, Springer Science and Business Media LLC, Vol. 617, No. 7962 ( 2023-05-25), p. 764-768
    Abstract: Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown 1 to be highly efficient for discovery of genetic associations 2 . Despite the advanced stage of illness at presentation, we have shown that host genetics in patients who are critically ill with COVID-19 can identify immunomodulatory therapies with strong beneficial effects in this group 3 . Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously. To investigate the therapeutic implications of these findings, we infer the structural consequences of protein-coding variants, and combine our GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model, as well as gene and protein expression using Mendelian randomization. We identify potentially druggable targets in multiple systems, including inflammatory signalling ( JAK1 ), monocyte–macrophage activation and endothelial permeability ( PDE4A ), immunometabolism ( SLC2A5 and AK5 ), and host factors required for viral entry and replication ( TMPRSS2 and RAB2A ).
    Type of Medium: Online Resource
    ISSN: 0028-0836 , 1476-4687
    URL: Article
    DOI: 10.1038/s41586-023-06034-3
    RVK:
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    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 120714-3
    detail.hit.zdb_id: 1413423-8
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  • 3
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    Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
    Springer Science and Business Media LLC ; 2023
    In:  Nature Vol. 619, No. 7971 ( 2023-07-27), p. E61-E61
    Details
    In: Nature, Springer Science and Business Media LLC, Vol. 619, No. 7971 ( 2023-07-27), p. E61-E61
    Type of Medium: Online Resource
    ISSN: 0028-0836 , 1476-4687
    URL: Article
    DOI: 10.1038/s41586-023-06383-z
    RVK:
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    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 120714-3
    detail.hit.zdb_id: 1413423-8
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  • 4
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    Whole-genome sequencing reveals host factors underlying critical COVID-19
    Springer Science and Business Media LLC ; 2022
    In:  Nature Vol. 607, No. 7917 ( 2022-07-07), p. 97-103
    Details
    In: Nature, Springer Science and Business Media LLC, Vol. 607, No. 7917 ( 2022-07-07), p. 97-103
    Abstract: Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care 1 or hospitalization 2–4 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.
    Type of Medium: Online Resource
    ISSN: 0028-0836 , 1476-4687
    URL: Article
    DOI: 10.1038/s41586-022-04576-6
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    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 120714-3
    detail.hit.zdb_id: 1413423-8
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  • 5
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    Bromeliads provide shelter against fire to mutualistic spiders in a fire‐prone landscape
    Wiley ; 2018
    In:  Ecological Entomology Vol. 43, No. 3 ( 2018-06), p. 389-393
    Details
    In: Ecological Entomology, Wiley, Vol. 43, No. 3 ( 2018-06), p. 389-393
    Abstract: 1. A key challenge in the study of mutualistic interactions is understanding sources of variation that strengthen or weaken these interactions. In spider–plant mutualisms, spiders benefit plants by improving plant nutrition and protecting plants from herbivory. Although the benefits of plants to spider growth and survival are often claimed, they are rarely demonstrated. 2. In this study, empirical evidence is provided that bromeliads ( Bromelia balansae , Bromeliaceae) are essential for the resilience of the mutualistic bromeliad‐living jumping spider populations ( Psecas chapoda , Salticidae) after a fire event, sheltering spiders from the heat of the flames. 3. Spider populations were compared before and after a natural fire event and it was shown that spiders of different ages survived the fire. The survival of such individuals allowed the population of P. chapoda spiders to recover rapidly, returning to pre‐fire levels in 5 months. 4. Bromeliads reduced the susceptibility of P. chapoda spiders to burning, and this mutualistic relationship contributed to the resilience of the spider population after a fire event. It is suggested that frequent fires in fire‐prone landscapes may have strengthened this spider–plant relationship, contributing to the maintenance and evolution of this association.
    Type of Medium: Online Resource
    ISSN: 0307-6946 , 1365-2311
    URL: Issue
    URL: Article
    DOI: 10.1111/een.2018.43.issue-3
    DOI: 10.1111/een.12497
    RVK:
    WA 15000
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2020189-8
    detail.hit.zdb_id: 196048-9
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  • 6
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    Naticid drilling predation from tidal flats in northern Patagonia, SW Atlantic
    Cambridge University Press (CUP) ; 2020
    In:  Journal of the Marine Biological Association of the United Kingdom Vol. 100, No. 6 ( 2020-09), p. 909-919
    Details
    In: Journal of the Marine Biological Association of the United Kingdom, Cambridge University Press (CUP), Vol. 100, No. 6 ( 2020-09), p. 909-919
    Abstract: Naticids and muricids are the main drilling gastropod families that leave a characteristic hole in their shelled prey. Drilling predation can be evaluated along spatial scales, and different latitudinal patterns (equatorward, poleward, mid-latitude peaks or no trend at all) have already been described. For Argentine Patagonia, most studies have analysed muricid predation, but scant information is available on naticid predation. This study provides evidence of predation by the moon snail Notocochlis isabelleana on a thin and fragile burrowing bivalve, Darina solenoides , along the intertidal sandflats at Pozo Salado, San Matías Gulf, in northern Patagonia. To estimate the incidence of predation, articulated specimens of Darina solenoides (N = 432) were randomly collected in the intertidal zone. Drill holes (N = 94) were recorded in shell lengths ranging between 10 and 35 mm. Taking into account previous studies in the region, the intensity of mortality by drilling (22%) constitutes a higher value than expected for this latitude. These results may help explain local patterns in a particular site in northern Patagonia which has been previously identified as an outlier, but further studies aimed at evaluating macrogeographic patterns are necessary for a better understanding of the regional factors that might be governing these predator–prey interactions.
    Type of Medium: Online Resource
    ISSN: 0025-3154 , 1469-7769
    URL: Article
    DOI: 10.1017/S0025315420000892
    RVK:
    WA 15000
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2020
    detail.hit.zdb_id: 1491269-7
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  • 7
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    Testing ecological and environmental changes during the last 6000 years: a multiproxy approach based on the bivalve Tawera gayi from southern South America
    Cambridge University Press (CUP) ; 2011
    In:  Journal of the Marine Biological Association of the United Kingdom Vol. 91, No. 7 ( 2011-11), p. 1413-1427
    Details
    In: Journal of the Marine Biological Association of the United Kingdom, Cambridge University Press (CUP), Vol. 91, No. 7 ( 2011-11), p. 1413-1427
    Abstract: This paper evaluates if the bivalve Tawera gayi from southern South America represents an opportunity to test ecological variability and environmental changes during the last 6000 years in southern South America. For this purpose, we analyse both modern and fossil (mid-to-late Holocene) T. gayi shells from Tierra del Fuego using different techniques, including taphonomy, stable isotopes, cathodoluminiscence (CL) and linear morphometrics. Taphonomic analysis shows that differences between modern and fossil shells appear best related to local variations of physical factors such as current speed, wave action and freshwater input along the non-uniform Beagle Channel coast. However, slight changes of hydraulic energy regimes throughout the Holocene cannot be ruled out. The analysis of stable isotopes on T. gayi shells indicates a mixing of oceanic waters with freshwater from precipitation, river runoff and glacier meltwater during the mid-to-late Holocene. The high depletion of δ 18 O at ~4400 years before present would be associated with a period of warmer temperatures, the so-called Hypsithermal. Under CL modern and fossil T. gayi shells show a well defined pattern related to the growth dynamics of the shell, which can lead to a better understanding of its biology, adding details to further palaeoenvironmental analysis. Finally, conventional metrics shows that fossil T. gayi shells are smaller and shorter than modern shells. These differences could be related to Holocene environmental changes, but here are best explained on the basis of a predator–prey relationship. This study shows that T. gayi may be a good candidate for looking at evidences of environmental changes in southern South America, and multi-proxy data are necessary to better understand the driving mechanisms of ecological variability and changes over short geological time intervals of few thousands of years.
    Type of Medium: Online Resource
    ISSN: 0025-3154 , 1469-7769
    URL: Article
    DOI: 10.1017/S0025315410002183
    RVK:
    WA 15000
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2011
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  • 8
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    Shell variability in Tawera gayi (Veneridae) from southern South America: a morphometric approach based on contour analysis
    Cambridge University Press (CUP) ; 2011
    In:  Journal of the Marine Biological Association of the United Kingdom Vol. 91, No. 4 ( 2011-06), p. 815-822
    Details
    In: Journal of the Marine Biological Association of the United Kingdom, Cambridge University Press (CUP), Vol. 91, No. 4 ( 2011-06), p. 815-822
    Abstract: This study analyses the significance of shell morphological variations in the venerid clam Tawera gayi , a typical element of shallow marine soft bottoms in southern South America and the most common species recovered from Late Quaternary marine deposits along the Beagle Channel, Tierra del Fuego. Fossil and modern Tawera shells from different localities around the southern tip of South America were analysed using the Elliptic Fourier Analysis (EFA) method. Taking into account the palaeontological history of this genus in the southern hemisphere, EFA was also performed on shells of Tawera congeners from South Africa ( T. philomela ) and New Zealand ( T. spissa ). The use of EFA permitted the distinction between the three Tawera species and geographical differentiation in the T. gayi groups. These morphological variations of T. gayi appear best related to ecophenotypic plasticity as a response to different environmental conditions, although the palaeobiogeographical history of Tawera in South America cannot be ruled out.
    Type of Medium: Online Resource
    ISSN: 0025-3154 , 1469-7769
    URL: Article
    DOI: 10.1017/S0025315410000391
    RVK:
    WA 15000
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2011
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    detail.hit.zdb_id: 281325-7
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  • 9
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    Vulnerable Andean condors in steep decline
    American Association for the Advancement of Science (AAAS) ; 2021
    In:  Science Vol. 371, No. 6536 ( 2021-03-26), p. 1319-1319
    Details
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 371, No. 6536 ( 2021-03-26), p. 1319-1319
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
    URL: Article
    DOI: 10.1126/science.abh3358
    RVK:
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    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2021
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    detail.hit.zdb_id: 2066996-3
    detail.hit.zdb_id: 2060783-0
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  • 10
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    Plastic debris in the open ocean
    Proceedings of the National Academy of Sciences ; 2014
    In:  Proceedings of the National Academy of Sciences Vol. 111, No. 28 ( 2014-07-15), p. 10239-10244
    Details
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 111, No. 28 ( 2014-07-15), p. 10239-10244
    Abstract: There is a rising concern regarding the accumulation of floating plastic debris in the open ocean. However, the magnitude and the fate of this pollution are still open questions. Using data from the Malaspina 2010 circumnavigation, regional surveys, and previously published reports, we show a worldwide distribution of plastic on the surface of the open ocean, mostly accumulating in the convergence zones of each of the five subtropical gyres with comparable density. However, the global load of plastic on the open ocean surface was estimated to be on the order of tens of thousands of tons, far less than expected. Our observations of the size distribution of floating plastic debris point at important size-selective sinks removing millimeter-sized fragments of floating plastic on a large scale. This sink may involve a combination of fast nano-fragmentation of the microplastic into particles of microns or smaller, their transference to the ocean interior by food webs and ballasting processes, and processes yet to be discovered. Resolving the fate of the missing plastic debris is of fundamental importance to determine the nature and significance of the impacts of plastic pollution in the ocean.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    URL: Article
    DOI: 10.1073/pnas.1314705111
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    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2014
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
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