11 research outputs found

    The Polygenic and Monogenic Basis of Blood Traits and Diseases

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    Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation. Analysis of blood cell traits in the UK Biobank and other cohorts illuminates the full genetic architecture of hematopoietic phenotypes, with evidence supporting the omnigenic model for complex traits and linking polygenic burden with monogenic blood diseases

    The Phytomanagement of PFAS-Contaminated Land

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    Globally, several hundred thousand hectares of both agricultural and urban land have become contaminated with per- and polyfluoroalkyl substances (PFAS). PFAS compounds are resistant to degradation and are mobile in soil compared to other common contaminants. Many compounds have K-D values (matrix/solution concentration quotients) of <10. PFAS compounds endanger the health of humans and ecosystems by leaching into groundwater, exposure via dust, and, to a lesser extent, through plant uptake. This review aims to determine the feasibility of phytomanagement, the use of plants, and the use of soil conditioners to minimize environmental risk whilst also providing an economic return in the management of PFAS-contaminated land. For most sites, PFAS combinations render phytoextraction, the use of plants to remove PFAS from soil, inviable. In contrast, low Bioaccumulation Coefficients (BAC; plant and soil concentration quotients) timber species or native vegetation may be usefully employed for phytomanagement to limit human/food chain exposure to PFAS. Even with a low BAC, PFAS uptake by crop plants may still exceed food safety standards, and therefore, edible crop plants should be avoided. Despite this limitation, phytomanagement may be the only economically viable option to manage most of this land. Plant species and soil amendments should be chosen with the goal of reducing water flux through the soil, as well as increasing the hydrophobic components in soil that may bind the C-F-dominated tails of PFAS compounds. Soil conditioners such as biochar, with significant hydrophobic components, may mitigate the leaching of PFAS into receiving waters. Future work should focus on the interactions of PFAS with soil microbiota; secondary metabolites such as glomalin may immobilize PFAS in soil.ISSN:1660-4601ISSN:1661-782

    Biochar as possible long-term soil amendment for phytostabilisation of TE-contaminated soils

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    Soils contaminated by trace elements (TEs) pose a high risk to their surrounding areas as TEs can spread by wind and water erosion or leaching. A possible option to reduce TE transfer from these sites is phytostabilisation. It is a long-term and cost-effective rehabilitation strategy which aims at immobilising TEs within the soil by vegetation cover and amendment application. One possible amendment is biochar. It is charred organic matter which has been shown to immobilise metals due to its high surface area and alkaline pH. Doubts have been expressed about the longevity of this immobilising effect as it could dissipate once the carbonates in the biochar have dissolved. Therefore, in a pot experiment, we determined plant metal uptake by ryegrass (Lolium perenne) from three TE-contaminated soils treated with two biochars, which differed only in their pH (acidic, 2.80; alkaline, 9.33) and carbonate (0.17 and 7.3 %) content. Root biomass was increased by the application of the alkaline biochar due to the decrease in TE toxicity. Zinc and Cu bioavailability and plant uptake were equally reduced by both biochars, showing that surface area plays an important role in metal immobilisation. Biochar could serve as a long-term amendment for TE immobilisation even after its alkalinity effect has dissipated.ISSN:0944-1344ISSN:1614-749

    Prediction of dissolved reactive phosphorus losses from small agricultural catchments: calibration andvalidation of a parsimonious model

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    Eutrophication of surface waters due to diffuse phosphorus (P) losses continues to bea severe water quality problem world-wide, causing the loss of ecosystem functions ofthe respective water bodies. Phosphorus in runoffoften originates from a small fractionof a catchment only. Targeting mitigation measures to these critical source areas (CSA) is expected to be most efficient and cost-effective, but requires suitable tools.Here we investigated the capability of the parsimonious Rainfall-Runoff-Phosphorus(RRP) model to identify CSA in grassland-dominated catchments based on readilyavailable soil and topographic data. After simultaneous calibration on runoffdata fromfour small hilly catchments on the Swiss Plateau, the model was validated on a different catchment in the same region without further calibration. The RRP model adequatelysimulated the discharge and dissolved reactive P (DRP) export from the validationcatchment. Sensitivity analysis showed that the model predictions were robust with re-spect to the classification of soils into “poorly drained” and “well drained”, based onthe available soil map. Comparing spatial hydrological model predictions with field data from the validation catchment provided further evidence that the assumptions under-lying the model are valid and that the model adequately accounts for the dominant Pexport processes in the target region. Thus, the parsimonious RRP model is a valu-able tool that can be used to determine CSA. Despite the considerable predictive un-certainty regarding the spatial extent of CSAs the RRP can provide guidance for the implementation of mitigation measures. The model helps to identify those parts of acatchment where high DRP losses are expected or can be excluded with high confi-dence. Legacy P was predicted to be the dominant source for DRP losses and thus, incombination with hydrologic active areas, a high risk for water quality.ISSN:1812-2116ISSN:1812-210

    Novel method to determine element concentrations in foliage of poplar and willow cuttings

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    <p>Measuring the uptake of the chemical elements by plants usually requires the destructive harvest of the plants. Analyzing individual leaves is unsatisfactory because their elemental concentration depends on their age and position on the branch or stem. We aimed to find an easy method to determine the elemental concentrations using a few suitable single leaves along the main shoot of poplar (<i>Populus monviso</i>) and willow (<i>Salix viminalis</i>) cuttings at the end of the first season. Using Ca, Cd, Mn, Fe, K, P, Pb, and Zn concentrations, measured in selected leaves along the main shoots of the cuttings, mathematical functions were derived, which described best their distribution. Elemental allocation patterns were independent of the soil characteristics and soil element concentrations. Based on these functions, three leaves from specific positions along the main shoot were selected, which could accurately describe the derived functions. The deviation of the calculated average concentration, based on the 3-leaves method, was ≀15% in approximately 65% of the cases compared to the measured concentration. This method could be used to calculate element concentrations and fluxes in phytomanagement, biomonitoring, or biomass productions projects using one-season poplar or willow cuttings.</p

    Biochar and biochar-compost as soil amendments to a vineyard soil: Influences on plant growth, nutrient uptake, plant health and grape quality

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    Most European vineyard soils exhibit low soil fertility. They are highly vulnerable to erosion, low in soil organic matter content and, therefore, in water holding capacity and nitrate retention. The applications of biochar and biochar-compost are said to address some of these issues. We tested the ability of these amendments to improve soil quality and plant production quality in a 30-year-old vineyard in Valais, Switzerland. The amendments of biochar alone (8tha⁻Âč, produced from wood at 500◩C), aerobic compost (55tha⁻Âč) and biochar-compost (8tha⁻Âč +55tha⁻Âč, mixed before the composting process) were compared to an un-amended control soil. During the years 2011, 2012 and 2013 various vine and green cover growth, vine health and grape quality parameters were monitored. Biochar and biochar-compost treatments induced only small, economically irrelevant and mostly non-significant effects over the three years. We concluded that topsoil application of higher amounts of biochar has no immediate economic value for vine growing in poor fertility, alkaline, temperate soil
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