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- Darabi, H, et al.
(författare)
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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
- 2016
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 32512-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90–0.94; P = 8.96 × 10−15)) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10−09, r2 = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10−11, r2 = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.
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- Steinacker, J. M., et al.
(författare)
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Global Alliance for the Promotion of Physical Activity: the Hamburg Declaration
- 2023
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Ingår i: Bmj Open Sport & Exercise Medicine. ; 9:3
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Tidskriftsartikel (refereegranskat)abstract
- Non-communicable diseases (NCDs), including coronary heart disease, stroke, hypertension, type 2 diabetes, dementia, depression and cancers, are on the rise worldwide and are often associated with a lack of physical activity (PA). Globally, the levels of PA among individuals are below WHO recommendations. A lack of PA can increase morbidity and mortality, worsen the quality of life and increase the economic burden on individuals and society. In response to this trend, numerous organisations came together under one umbrella in Hamburg, Germany, in April 2021 and signed the 'Hamburg Declaration'. This represented an international commitment to take all necessary actions to increase PA and improve the health of individuals to entire communities. Individuals and organisations are working together as the 'Global Alliance for the Promotion of Physical Activity' to drive long-term individual and population-wide behaviour change by collaborating with all stakeholders in the community: active hospitals, physical activity specialists, community services and healthcare providers, all achieving sustainable health goals for their patients/clients. The 'Hamburg Declaration' calls on national and international policymakers to take concrete action to promote daily PA and exercise at a population level and in healthcare settings.
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- Gislason, S.R., et al.
(författare)
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Environmental pressure from the 2014–15 eruption of Bárðarbunga volcano, Iceland
- 2015
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Ingår i: Geochemical Perspectives Letters. - : European Association of Geochemistry. - 2410-3403 .- 2410-339X. ; 1:2015, s. 84 - 93
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Tidskriftsartikel (refereegranskat)abstract
- The effusive six months long 2014-2015 Bárðarbunga eruption (31 August-27 February) was the largest in Iceland for more than 200 years, producing 1.6 ± 0.3 km3 of lava. The total SO2 emission was 11 ± 5 Mt, more than the amount emitted from Europe in 2011. The ground level concentration of SO2 exceeded the 350 μg m−3 hourly average health limit over much of Iceland for days to weeks. Anomalously high SO2 concentrations were also measured at several locations in Europe in September. The lowest pH of fresh snowmelt at the eruption site was 3.3, and 3.2 in precipitation 105 km away from the source. Elevated dissolved H2SO4, HCl, HF, and metal concentrations were measured in snow and precipitation. Environmental pressures from the eruption and impacts on populated areas were reduced by its remoteness, timing, and the weather. The anticipated primary environmental pressure is on the surfacewaters, soils, and vegetation of Iceland.
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- Scott, Robert A., et al.
(författare)
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A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease
- 2016
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Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6234 .- 1946-6242. ; 8:341
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Tidskriftsartikel (refereegranskat)abstract
- Regulatory authorities have indicated that new drugs to treat type 2 diabetes (T2D) should not be associated with an unacceptable increase in cardiovascular risk. Human genetics may be able to guide development of antidiabetic therapies by predicting cardiovascular and other health endpoints. We therefore investigated the association of variants in six genes that encode drug targets for obesity or T2D with a range of metabolic traits in up to 11,806 individuals by targeted exome sequencing and follow-up in 39,979 individuals by targeted genotyping, with additional in silico follow-up in consortia. We used these data to first compare associations of variants in genes encoding drug targets with the effects of pharmacological manipulation of those targets in clinical trials. We then tested the association of those variants with disease outcomes, including coronary heart disease, to predict cardiovascular safety of these agents. A low-frequency missense variant (Ala316Thr; rs10305492) in the gene encoding glucagon-like peptide-1 receptor (GLP1R), the target of GLP1R agonists, was associated with lower fasting glucose and T2D risk, consistent with GLP1R agonist therapies. The minor allele was also associated with protection against heart disease, thus providing evidence that GLP1R agonists are not likely to be associated with an unacceptable increase in cardiovascular risk. Our results provide an encouraging signal that these agents may be associated with benefit, a question currently being addressed in randomized controlled trials. Genetic variants associated with metabolic traits and multiple disease outcomes can be used to validate therapeutic targets at an early stage in the drug development process.
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- Coppola, D., et al.
(författare)
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Shallow system rejuvenation and magma discharge trends at Piton de la Fournaise volcano (La Réunion Island)
- 2017
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Ingår i: Earth and Planetary Science Letters. - : Elsevier BV. - 1385-013X .- 0012-821X. ; 463, s. 13-24
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Tidskriftsartikel (refereegranskat)abstract
- Basaltic magma chambers are often characterized by emptying and refilling cycles that influence their evolution in space and time, and the associated eruptive activity. During April 2007, the largest historical eruption of Piton de la Fournaise (Île de La Réunion, France) drained the shallow plumbing system (>240×106 m3) and resulted in collapse of the 1-km-wide summit crater. Following these major events, Piton de la Fournaise entered a seven-year long period of near-continuous deflation interrupted, in June 2014, by a new phase of significant inflation. By integrating multiple datasets (lava discharge rates, deformation, seismicity, gas flux, gas composition, and lava chemistry), we here show that the progressive migration of magma from a deeper (below sea level) storage zone gradually rejuvenated and pressurized the above-sea-level portion of the magmatic system consisting of a vertically-zoned network of relatively small-volume magma pockets. Continuous inflation provoked four small (
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- Liu, E. J., et al.
(författare)
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Aerial strategies advance volcanic gas measurements at inaccessible, strongly degassing volcanoes
- 2020
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Ingår i: Science advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 6:44
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Tidskriftsartikel (refereegranskat)abstract
- Volcanic emissions are a critical pathway in Earth's carbon cycle. Here, we show that aerial measurements of volcanic gases using unoccupied aerial systems (UAS) transform our ability to measure and monitor plumes remotely and to constrain global volatile fluxes from volcanoes. Combining multi-scale measurements from ground-based remote sensing, long-range aerial sampling, and satellites, we present comprehensive gas fluxes-3760 ± [600, 310] tons day-1 CO2 and 5150 ± [730, 340] tons day-1 SO2-for a strong yet previously uncharacterized volcanic emitter: Manam, Papua New Guinea. The CO2/ST ratio of 1.07 ± 0.06 suggests a modest slab sediment contribution to the sub-arc mantle. We find that aerial strategies reduce uncertainties associated with ground-based remote sensing of SO2 flux and enable near-real-time measurements of plume chemistry and carbon isotope composition. Our data emphasize the need to account for time averaging of temporal variability in volcanic gas emissions in global flux estimates.
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| 9. |
- Harris, A. J L, et al.
(författare)
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Effusive crises at Piton de la Fournaise 2014–2015: a review of a multi-national response model
- 2017
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Ingår i: Journal of Applied Volcanology. - : Springer Science and Business Media LLC. - 2191-5040. ; 6:1
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Forskningsöversikt (refereegranskat)abstract
- Many active European volcanoes and volcano observatories are island-based and located far from their administrative “mainland”. Consequently, Governments have developed multisite approaches, in which monitoring is performed by a network of individuals distributed across several national research centers. At a transnational level, multinational networks are also progressively emerging. Piton de la Fournaise (La Réunion Island, France) is one such example. Piton de la Fournaise is one of the most active volcanoes of the World, and is located at the greatest distance from its “mainland” than any other vulnerable “overseas” site, the observatory being 9365 km from its governing body in Paris. Effusive risk is high, so that a well-coordinated and rapid response involving near-real time delivery of trusted, validated and operational product for hazard assessment is critical. Here we review how near-real time assessments of lava flow propagation were developed using rapid provision, and update, of key source terms through a dynamic and open integration of near-real time remote sensing, modeling and measurement capabilities on both the national and international level. The multi-national system evolved during the five effusive crises of 2014–2015, and is now mature for Piton de la Fournaise. This review allows us to identify strong and weak points in an extended observatory system, and demonstrates that enhanced multi-national integration can have fundamental implications in scientific hazard assessment and response during an on-going effusive crisis.
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| 10. |
- Pfeffer, M. A., et al.
(författare)
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Ground-Based measurements of the 2014-2015 holuhraun volcanic cloud (Iceland)
- 2018
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Ingår i: Geosciences (Switzerland). - : MDPI AG. - 2076-3263. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- The 2014-2015 Bárðarbunga fissure eruption at Holuhraun in central Iceland was distinguished by the high emission of gases, in total 9.6 Mt SO 2 , with almost no tephra. This work collates all ground-based measurements of this extraordinary eruption cloud made under particularly challenging conditions: remote location, optically dense cloud with high SO 2 column amounts, low UV intensity, frequent clouds and precipitation, an extensive and hot lava field, developing ramparts, and high-latitude winter conditions. Semi-continuous measurements of SO 2 flux with three scanning DOAS instruments were augmented by car traverses along the ring-road and along the lava. The ratios of other gases/SO 2 were measured by OP-FTIR, MultiGAS, and filter packs. Ratios of SO 2 /HCl = 30-110 and SO 2 /HF = 30-130 show a halogen-poor eruption cloud. Scientists on-site reported extremely minor tephra production during the eruption. OPC and filter packs showed low particle concentrations similar to non-eruption cloud conditions. Three weather radars detected a droplet-rich eruption cloud. Top of eruption cloud heights of 0.3-5.5 km agl were measured with ground-and aircraft-based visual observations, web camera and NicAIR II infrared images, triangulation of scanning DOAS instruments, and the location of SO 2 peaks measured by DOAS traverses. Cloud height and emission rate measurements were critical for initializing gas dispersal simulations for hazard forecasting.
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