| 1. |
- Aas, Wenche, et al.
(författare)
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Trends in Air Pollution in Europe, 2000–2019
- 2024
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Ingår i: Aerosol and Air Quality Research. - 2071-1409 .- 1680-8584. ; 24:4
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Tidskriftsartikel (refereegranskat)abstract
- This paper encompasses an assessment of air pollution trends in rural environments in Europe over the 2000–2019 period, benefiting from extensive long-term observational data from the EMEP monitoring network and EMEP MSC-W model computations. The trends in pollutant concentrations align with the decreasing emission patterns observed throughout Europe. Annual average concentrations of sulfur dioxide, particulate sulfate, and sulfur wet deposition have shown consistent declines of 3–4% annually since 2000. Similarly, oxidized nitrogen species have markedly decreased across Europe, with an annual reduction of 1.5–2% in nitrogen dioxide concentrations, total nitrate in the air, and oxidized nitrogen deposition. Notably, emission reductions and model predictions appear to slightly surpass the observed declines in sulfur and oxidized nitrogen, indicating a potential overestimation of reported emission reductions. Ammonia emissions have decreased less compared to other pollutants since 2000. Significant reductions in particulate ammonium have however, been achieved due to the impact of reductions in SOx and NOx emissions. For ground level ozone, both the observed and modelled peak levels in summer show declining trends, although the observed decline is smaller than modelled. There have been substantial annual reductions of 1.8% and 2.4% in the concentrations of PM10 and PM2.5, respectively. Elemental carbon has seen a reduction of approximately 4.5% per year since 2000. A similar reduction for organic carbon is only seen in winter when primary anthropogenic sources dominate. The observed improvements in European air quality emphasize the importance of comprehensive legislations to mitigate emissions.
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| 2. |
- Alastuey, Andres, et al.
(författare)
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Geochemistry of PM10 over Europe during the EMEP intensive measurement periods in summer 2012 and winter 2013
- 2016
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Ingår i: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 16:10, s. 6107-6129
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Tidskriftsartikel (refereegranskat)abstract
- The third intensive measurement period (IMP) organised by the European Monitoring and Evaluation Programme (EMEP) under the UNECE CLTRAP took place in summer 2012 and winter 2013, with PM10 filter samples concurrently collected at 20 (16 EMEP) regional background sites across Europe for subsequent analysis of their mineral dust content. All samples were analysed by the same or a comparable methodology. Higher PM10 mineral dust loadings were observed at most sites in summer (0.5-10aEuro-A mu gaEuro-m(-3)) compared to winter (0.2-2aEuro-A mu gaEuro-m(-3)), with the most elevated concentrations in the southern- and easternmost countries, accounting for 20-40aEuro-% of PM10. Saharan dust outbreaks were responsible for the high summer dust loadings at western and central European sites, whereas regional or local sources explained the elevated concentrations observed at eastern sites. The eastern Mediterranean sites experienced elevated levels due to African dust outbreaks during both summer and winter. The mineral dust composition varied more in winter than in summer, with a higher relative contribution of anthropogenic dust during the former period. A relatively high contribution of K from non-mineral and non-sea-salt sources, such as biomass burning, was evident in winter at some of the central and eastern European sites. The spatial distribution of some components and metals reveals the influence of specific anthropogenic sources on a regional scale: shipping emissions (V, Ni, and SO42-) in the Mediterranean region, metallurgy (Cr, Ni, and Mn) in central and eastern Europe, high temperature processes (As, Pb, and SO42-) in eastern countries, and traffic (Cu) at sites affected by emissions from nearby cities.
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| 3. |
- Cavalli, F., et al.
(författare)
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A European aerosol phenomenology-4 : Harmonized concentrations of carbonaceous aerosol at 10 regional background sites across Europe
- 2016
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Ingår i: Atmospheric Environment. - : Elsevier BV. - 1352-2310 .- 1873-2844. ; 144, s. 133-145
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Tidskriftsartikel (refereegranskat)abstract
- Although particulate organic and elemental carbon (OC and EC) are important constituents of the suspended atmospheric particulate matter (PM), measurements of OC and EC are much less common and More uncertain than measurements of e.g. the ionic components of PM. In the framework of atmospheric research infrastructures supported by the European Union, actions have been undertaken to determine and mitigate sampling artefacts, and assess the comparability of OC and EC data obtained in a network of 10 atmospheric observatories across Europe. Positive sampling artefacts (from 0:4 to 2.8 mu g C/m(3)) and analytical discrepancies (between -50% and +40% for the EC/TC ratio) have been taken into account to generate a robust data set, from which we established the phenomenology of carbonaceous aerosols at regional background sites in Europe. Across the network, TC and EC annual average concentrations range from 0.4 to 9 mu g C/m(3), and from 0.1 to 2 mu g C/m(3), respectively. TC/PM10 annual mean ratios range from 0.11 at a Mediterranean site to 0.34 at the most polluted continental site, and TC/PM2.5 ratios are slightly greater at all sites (0.15-0.42). EC/TC annual mean ratios range from 0.10 to 0.22, and do not depend much on PM concentration levels, especially in winter. Seasonal variations in PM and TC concentrations, and in TC/PM and EC/TC ratios, differ across the network, which can be explained by seasonal changes in PM source contributions at some sites.
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| 4. |
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| 5. |
- Hallberg, Pär, et al.
(författare)
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Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough : a genome-wide association study in a Swedish population
- 2017
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Ingår i: Pharmacogenomics (London). - : FUTURE MEDICINE LTD. - 1462-2416 .- 1744-8042. ; 18:3, s. 201-213
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Tidskriftsartikel (refereegranskat)abstract
- Aim: We conducted a genome-wide association study on angiotensin-converting enzyme inhibitor-induced cough and used our dataset to replicate candidate genes iden-tified in previous studies. Patients & methods: A total of 124 patients and 1345 treated controls were genotyped using Illumina arrays. The genome-wide significance level was set to p < 5 x 10(-8). Results: We identified nearly genome-wide significant associations in CLASP1, PDE11A, KCNMB2, TGFA, SLC38A6 and MMP16. The strongest association was with rs62151109 in CLASP1 (odds ratio: 3.97; p = 9.44 x 10(-8)). All top hits except two were located in intronic or noncoding DNA regions. None of the candidate genes were significantly associated in our study. Conclusion: Angiotensin-converting enzyme inhibitor-induced cough is potentially associated with genes that are independent of bradykinin pathways.
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| 6. |
- Hallberg, Pär, 1974-, et al.
(författare)
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Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival
- 2019
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Ingår i: EBioMedicine. - : Elsevier BV. - 2352-3964. ; 40, s. 595-604
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The incidence of narcolepsy rose sharply after the swine influenza A (H1N1) vaccination campaign with Pandemrix. Narcolepsy is an immune-related disorder with excessive daytime sleepiness. The most frequent form is strongly associated with HLA-DQB1*06:02, but only a minority of carriers develop narcolepsy. We aimed to identify genetic markers that predispose to Pandemrix-induced narcolepsy.METHODS: We tested for genome-wide and candidate gene associations in 42 narcolepsy cases and 4981 controls. Genotyping was performed on Illumina arrays, HLA alleles were imputed using SNP2HLA, and single nucleotide polymorphisms were imputed using the haplotype reference consortium panel. The genome-wide significance threshold was p < 5 × 10-8, and the nominal threshold was p < 0.05. Results were replicated in 32 cases and 7125 controls. Chromatin data was used for functional annotation.FINDINGS: Carrying HLA-DQB1*06:02 was significantly associated with narcolepsy, odds ratio (OR) 39.4 [95% confidence interval (CI) 11.3, 137], p = 7.9 × 10-9. After adjustment for HLA, GDNF-AS1 (rs62360233) was significantly associated, OR = 8.7 [95% CI 4.2, 17.5], p = 2.6 × 10-9, and this was replicated, OR = 3.4 [95% CI 1.2-9.6], p = 0.022. Functional analysis revealed variants in high LD with rs62360233 that might explain the detected association. The candidate immune-gene locus TRAJ (rs1154155) was nominally associated in both the discovery and replication cohorts, meta-analysis OR = 2.0 [95% CI 1.4, 2.8], p = 0.0002.INTERPRETATION: We found a novel association between Pandemrix-induced narcolepsy and the non-coding RNA gene GDNF-AS1, which has been shown to regulate expression of the essential neurotrophic factor GDNF. Changes in regulation of GDNF have been associated with neurodegenerative diseases. This finding may increase the understanding of disease mechanisms underlying narcolepsy. Associations between Pandemrix-induced narcolepsy and immune-related genes were replicated.
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| 7. |
- Northcott, Paul A, et al.
(författare)
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Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.
- 2014
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 511:7510, s. 428-428
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Tidskriftsartikel (refereegranskat)abstract
- Medulloblastoma is a highly malignant paediatric brain tumour currently treated with a combination of surgery, radiation and chemotherapy, posing a considerable burden of toxicity to the developing child. Genomics has illuminated the extensive intertumoral heterogeneity of medulloblastoma, identifying four distinct molecular subgroups. Group 3 and group 4 subgroup medulloblastomas account for most paediatric cases; yet, oncogenic drivers for these subtypes remain largely unidentified. Here we describe a series of prevalent, highly disparate genomic structural variants, restricted to groups 3 and 4, resulting in specific and mutually exclusive activation of the growth factor independent 1 family proto-oncogenes, GFI1 and GFI1B. Somatic structural variants juxtapose GFI1 or GFI1B coding sequences proximal to active enhancer elements, including super-enhancers, instigating oncogenic activity. Our results, supported by evidence from mouse models, identify GFI1 and GFI1B as prominent medulloblastoma oncogenes and implicate 'enhancer hijacking' as an efficient mechanism driving oncogene activation in a childhood cancer.
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| 8. |
- Parsons, Michael T, et al.
(författare)
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
- 2019
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; , s. 1557-1578
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Tidskriftsartikel (refereegranskat)abstract
- The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.
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| 9. |
- Rasmussen, Eva Rye, et al.
(författare)
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Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.
- 2020
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Ingår i: The Pharmacogenomics Journal. - : Springer Science and Business Media LLC. - 1470-269X .- 1473-1150. ; 20:6, s. 770-783
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Tidskriftsartikel (refereegranskat)abstract
- Angioedema in the mouth or upper airways is a feared adverse reaction to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, which is used for hypertension, heart failure and diabetes complications. This candidate gene and genome-wide association study aimed to identify genetic variants predisposing to angioedema induced by these drugs. The discovery cohort consisted of 173 cases and 4890 controls recruited in Sweden. In the candidate gene analysis, ETV6, BDKRB2, MME, and PRKCQ were nominally associated with angioedema (p < 0.05), but did not pass Bonferroni correction for multiple testing (p < 2.89 × 10-5). In the genome-wide analysis, intronic variants in the calcium-activated potassium channel subunit alpha-1 (KCNMA1) gene on chromosome 10 were significantly associated with angioedema (p < 5 × 10-8). Whilst the top KCNMA1 hit was not significant in the replication cohort (413 cases and 599 ACEi-exposed controls from the US and Northern Europe), a meta-analysis of the replication and discovery cohorts (in total 586 cases and 1944 ACEi-exposed controls) revealed that each variant allele increased the odds of experiencing angioedema 1.62 times (95% confidence interval 1.05-2.50, p = 0.030). Associated KCNMA1 variants are not known to be functional, but are in linkage disequilibrium with variants in transcription factor binding sites active in relevant tissues. In summary, our data suggest that common variation in KCNMA1 is associated with risk of angioedema induced by ACEi or ARB treatment. Future whole exome or genome sequencing studies will show whether rare variants in KCNMA1 or other genes contribute to the risk of ACEi- and ARB-induced angioedema.
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| 10. |
- Yttri, K. E., et al.
(författare)
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Elemental and organic carbon in PM10 : a one year measurement campaign within the European Monitoring and Evaluation Programme EMEP
- 2007
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Ingår i: Atmospheric Chemistry And Physics. - 1680-7316 .- 1680-7324. ; 7:22, s. 5711-5725
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Tidskriftsartikel (refereegranskat)abstract
- In the present study, ambient aerosol (PM10) concentrations of elemental carbon (EC), organic carbon (OC), and total carbon (TC) are reported for 12 European rural background sites and two urban background sites following a one-year (1 July 2002 & ndash;1 July 2003) sampling campaign within the European Monitoring and Evaluation Programme, EMEP (http://www.emep.int/). The purpose of the campaign was to assess the feasibility of performing EC and OC monitoring on a regular basis and to obtain an overview of the spatial and seasonal variability on a regional scale in Europe. Analyses were performed using the thermal-optical transmission (TOT) instrument from Sunset Lab Inc., operating according to a NIOSH derived temperature program. The annual mean mass concentration of EC ranged from 0.17 +/- 0.19 mu G m(-3) (mean +/- SD) at Birkenes (Norway) to 1.83 +/- 1.32 mu g m(-3) at Ispra (Italy). The corresponding range for OC was 1.20 +/- 1.29 mu g m(-3) at Mace Head (Ireland) to 7.79 +/- 6.80 mu g m-3 at Ispra. On average, annual concentrations of EC, OC, and TC were three times higher for rural background sites in Central, Eastern and Southern Europe compared to those situated in the Northern and Western parts of Europe. Wintertime concentrations of EC and OC were higher than those recorded during summer for the majority of the sites. Moderate to high Pearson correlation coefficients (r(p)) (0.50-0.94) were observed for EC versus OC for the sites investigated. The lowest correlation coefficients were noted for the three Scandinavian sites: Aspvreten (SE), Birkenes (NO), and Virolahti (FI), and the Slovakian site Stara Lesna, and are suggested to reflect biogenic sources, wild and prescribed fires. This suggestion is supported by the fact that higher concentrations of OC are observed for summer compared to winter for these sites. For the rural background sites, total carbonaceous material accounted for 30 +/- 9% of PM10, of which 27 +/- 9% could be attributed to organic matter (OM) and 3.4 +/- 1.0% to elemental matter (EM). OM was found to be more abundant than SO42- for sites reporting both parameters.
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