| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Tye, Andrew M., et al.
(författare)
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Dissolved inorganic carbon export from rivers of Great Britain : Spatial distribution and potential catchment-scale controls
- 2022
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Ingår i: Journal of Hydrology. - : Elsevier. - 0022-1694 .- 1879-2707. ; 615
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Tidskriftsartikel (refereegranskat)abstract
- Dissolved inorganic carbon (DIC) fluxes from the land to ocean have been quantified for many rivers globally. However, CO2 fluxes to the atmosphere from inland waters are quantitatively significant components of the global carbon cycle that are currently poorly constrained. Understanding, the relative contributions of natural and human-impacted processes on the DIC cycle within catchments may provide a basis for developing improved management strategies to mitigate free CO2 concentrations in rivers and subsequent evasion to the atmosphere. Here, a large, internally consistent dataset collected from 41 catchments across Great Britain (GB), accounting for ∼36% of land area (∼83,997 km2) and representative of national land cover, was used to investigate catchment controls on riverine dissolved inorganic carbon (DIC), bicarbonate (HCO3−) and free CO2 concentrations, fluxes to the coastal sea and annual yields per unit area of catchment. Estimated DIC flux to sea for the survey catchments was 647 kt DIC yr−1 which represented 69% of the total dissolved carbon flux from these catchments. Generally, those catchments with large proportions of carbonate and sedimentary sandstone were found to deliver greater DIC and HCO3− to the ocean. The calculated mean free CO2 yield for survey catchments (i.e. potential CO2 emission to the atmosphere) was 0.56 t C km−2 yr−1. Regression models demonstrated that whilst river DIC (R2 = 0.77) and HCO3− (R2 = 0.77) concentrations are largely explained by the geology of the landmass, along with a negative correlation to annual precipitation, free CO2 concentrations were strongly linked to catchment macronutrient status. Overall, DIC dominates dissolved C inputs to coastal waters, meaning that estuarine carbon dynamics are sensitive to underlying geology and therefore are likely to be reasonably constant. In contrast, potential losses of carbon to the atmosphere via dissolved CO2, which likely constitute a significant fraction of net terrestrial ecosystem production and hence the national carbon budget, may be amenable to greater direct management via altering patterns of land use.
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| 3. |
- Williamson, Jennifer L., et al.
(författare)
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Landscape controls on riverine export of dissolved organic carbon from Great Britain
- 2021
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Ingår i: Biogeochemistry. - : Springer Science and Business Media LLC. - 0168-2563 .- 1573-515X.
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Tidskriftsartikel (refereegranskat)abstract
- The dissolved organic carbon (DOC) export from land to ocean via rivers is a significant term in the global C cycle, and has been modified in many areas by human activity. DOC exports from large global rivers are fairly well quantified, but those from smaller river systems, including those draining oceanic regions, are generally under-represented in global syntheses. Given that these regions typically have high runoff and high peat cover, they may exert a disproportionate influence on the global land–ocean DOC export. Here we describe a comprehensive new assessment of the annual riverine DOC export to estuaries across the island of Great Britain (GB), which spans the latitude range 50–60° N with strong spatial gradients of topography, soils, rainfall, land use and population density. DOC yields (export per unit area) were positively related to and best predicted by rainfall, peat extent and forest cover, but relatively insensitive to population density or agricultural development. Based on an empirical relationship with land use and rainfall we estimate that the DOC export from the GB land area to the freshwater-seawater interface was 1.15 Tg C year−1 in 2017. The average yield for GB rivers is 5.04 g C m−2 year−1, higher than most of the world’s major rivers, including those of the humid tropics and Arctic, supporting the conclusion that under-representation of smaller river systems draining peat-rich areas could lead to under-estimation of the global land–ocean DOC export. The main anthropogenic factor influencing the spatial distribution of GB DOC exports appears to be upland conifer plantation forestry, which is estimated to have raised the overall DOC export by 0.168 Tg C year−1. This is equivalent to 15% of the estimated current rate of net CO2 uptake by British forests. With the UK and many other countries seeking to expand plantation forest cover for climate change mitigation, this ‘leak in the ecosystem’ should be incorporated in future assessments of the CO2 sequestration potential of forest planting strategies.
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| 4. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 6. |
- Bowes, Heather M, et al.
(författare)
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Swim performance and thermoregulatory effects of wearing clothing in a simulated cold-water survival situation.
- 2016
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Ingår i: European Journal of Applied Physiology. - : Springer. - 1439-6319 .- 1439-6327. ; 116:4, s. 759-67
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Accidental cold-water immersion (CWI) impairs swim performance, increases drowning risk and often occurs whilst clothed. The impact of clothing on thermoregulation and swim performance during CWI was explored with the view of making recommendations on whether swimming is viable for self-rescue; contrary to the traditional recommendations.METHOD: Ten unhabituated males (age 24 (4) years; height 1.80 (0.08) m; mass 78.50 (10.93) kg; body composition 14.8 (3.4) fat %) completed four separate CWIs in 12 °C water. They either rested clothed or naked (i.e. wearing a bathing costume) or swum self-paced clothed or naked for up to 1 h. Swim speed, distance covered, oxygen consumption and thermal responses (rectal temperature (T re), mean skin temperature (T msk) and mean body temperature T b) were measured.RESULTS: When clothed, participants swum at a slower pace and for a significantly shorter distance (815 (482) m, 39 (19) min) compared to when naked (1264 (564) m, 52 (18) min), but had a similar oxygen consumption indicating clothing made them less efficient. Swimming accelerated the rate of T msk and T b cooling and wearing clothing partially attenuated this drop. The impairment to swimming performance caused by clothing was greater than the thermal benefit it provided; participants withdrew due to exhaustion before hypothermia developed.CONCLUSION: Swimming is a viable self-rescue method in 12 °C water, however, clothing impairs swimming capability. Self-rescue swimming could be considered before clinical hypothermia sets in for the majority of individuals. These suggestions must be tested for the wider population.
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| 7. |
- Bowes, Rachel E., et al.
(författare)
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Reweaving river food webs through time
- 2020
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Ingår i: Freshwater Biology. - : Wiley-Blackwell. - 0046-5070 .- 1365-2427. ; 65:3, s. 390-402
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Tidskriftsartikel (refereegranskat)abstract
- Our project sought to determine ecological effects of adding low-head dams and levees to large rivers by examining potential changes to aquatic food webs over a 70-year period in the Lower Ohio River (LOR) and Upper Mississippi River (UMR). We employed museum collections of fish and compound specific stable isotope analysis of amino acids to evaluate long-term changes in primary food sources for multiple species of fish in each river. Fishes in both rivers depended more on autochthonous than allochthonous carbon sources throughout the 70-year period (based on measurements of isotopic signatures of algae, C-3 plants, C-4 plants, cyanobacteria, and fungi), but the relative use of different carbon sources differed between the UMR and LOR. Significant but opposite shifts in trophic positions (TP) between rivers over time (higher TP in the UMR; lower in the LOR) were correlated with major anthropogenic changes to habitat structure (e.g. slight decrease in abundance of side channels in the UMR; increase in pool water depth in the LOR) resulting from low-head dam construction. They may also have been influenced by likely increased primary productivity in the UMR from agricultural nitrogen inputs and by possible shifts in the importance of phytoplankton versus benthic algae in the LOR from changes in water depth. Shifts in trophic position and reliance on various food sources were not correlated with variation in discharge, gage height, or temperature. Although these two rivers have contrasting hydrogeomorphic complexity (UMR is an anastomosing river, while the LOR is a constricted channel river) and different discharge patterns (seasonal versus yearly operation in some cases), both differ substantially from rivers having hydrogeomorphic changes resulting from construction of high dams (>15 m). It is not surprising, therefore, that factors controlling trophic position and reliance on different carbon sources vary among different types of dams and river structures.
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| 8. |
- Garcia-Martin, E. Elena, et al.
(författare)
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Sources, Composition, and Export of Particulate Organic Matter Across British Estuaries
- 2023
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Ingår i: Journal of Geophysical Research - Biogeosciences. - : American Geophysical Union (AGU). - 2169-8953 .- 2169-8961. ; 128:4
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Tidskriftsartikel (refereegranskat)abstract
- Estuaries receive and process a large amount of particulate organic carbon (POC) prior to its export into coastal waters. Studying the origin of this POC is key to understanding the fate of POC and the role of estuaries in the global carbon cycle. Here, we evaluated the concentrations of POC, as well as particulate organic nitrogen (PON), and used stable carbon and nitrogen isotopes to assess their sources across 13 contrasting British estuaries during five different sampling campaigns over 1 year. We found a high variability in POC and PON concentrations across the salinity gradient, reflecting inputs, and losses of organic material within the estuaries. Catchment land cover appeared to influence the contribution of POC to the total organic carbon flux from the estuary to coastal waters, with POC contributions >36% in estuaries draining catchments with a high percentage of urban/suburban land, and <11% in estuaries draining catchments with a high peatland cover. There was no seasonal pattern in the isotopic composition of POC and PON, suggesting similar sources for each estuary over time. Carbon isotopic ratios were depleted (-26.7 +/- 0.42 parts per thousand, average +/- sd) at the lowest salinity waters, indicating mainly terrigenous POC (TPOC). Applying a two-source mixing model, we observed high variability in the contribution of TPOC at the highest salinity waters between estuaries, with a median value of 57%. Our results indicate a large transport of terrigenous organic carbon into coastal waters, where it may be buried, remineralized, or transported offshore. Plain Language Summary Estuaries transport and process a large amount terrigenous particulate organic matter (i.e., carbon and nitrogen) prior to its export to coastal waters. In order to understand the fate of organic carbon and the role of estuaries in the global carbon cycle it is essential to improve our knowledge on its composition, origin, and amount of carbon transported. We quantified the elemental concentrations and stable isotopes composition of carbon and nitrogen to quantify the amount of terrigenous particulate organic matter transported by 13 British estuaries, which drain catchments of diverse land cover under different hydrological conditions. We found a great variability in particulate organic carbon (POC) and particulate organic nitrogen concentrations across the salinity gradient, implying inputs, and losses of material within the estuaries. Each estuary had similar sources of particulate material throughout the year. In most of the estuaries, the POC had a terrigenous origin at the lowest salinity waters. The terrigenous organic carbon contribution decreased toward coastal waters with an average contribution of 57% at the highest salinity waters, indicating a large transport of terrigenous organic carbon into coastal waters.
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| 9. |
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| 10. |
- Hüffmeier, Ulrike, et al.
(författare)
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Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 996-999
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Tidskriftsartikel (refereegranskat)abstract
- Psoriatic arthritis (PsA) is an inflammatory joint disease that is distinct from other chronic arthritides and which is frequently accompanied by psoriasis vulgaris (PsV) and seronegativity for rheumatoid factor. We conducted a genome-wide association study in 609 German individuals with PsA (cases) and 990 controls with replication in 6 European cohorts including a total of 5,488 individuals. We replicated PsA associations at HLA-C and IL12B and identified a new association at TRAF3IP2 (rs13190932, P = 8.56 × 10⁻¹⁷). TRAF3IP2 was also associated with PsV in a German cohort including 2,040 individuals (rs13190932, P = 1.95 × 10⁻³). Sequencing of the exons of TRAF3IP2 identified a coding variant (p.Asp10Asn, rs33980500) as the most significantly associated SNP (P = 1.13 × 10⁻²⁰, odds ratio = 1.95). Functional assays showed reduced binding of this TRAF3IP2 variant to TRAF6, suggesting altered modulation of immunoregulatory signals through altered TRAF interactions as a new and shared pathway for PsA and PsV.
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