| 1. |
- Smith, Jennifer A, et al.
(författare)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Tidskriftsartikel (refereegranskat)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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| 2. |
- Abelev, Betty, et al.
(författare)
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Long-range angular correlations on the near and away side in p-Pb collisions at root S-NN=5.02 TeV
- 2013
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 719:1-3, s. 29-41
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Tidskriftsartikel (refereegranskat)abstract
- Angular correlations between charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV for transverse momentum ranges within 0.5 < P-T,P-assoc < P-T,P-trig < 4 GeV/c. The correlations are measured over two units of pseudorapidity and full azimuthal angle in different intervals of event multiplicity, and expressed as associated yield per trigger particle. Two long-range ridge-like structures, one on the near side and one on the away side, are observed when the per-trigger yield obtained in low-multiplicity events is subtracted from the one in high-multiplicity events. The excess on the near-side is qualitatively similar to that recently reported by the CMS Collaboration, while the excess on the away-side is reported for the first time. The two-ridge structure projected onto azimuthal angle is quantified with the second and third Fourier coefficients as well as by near-side and away-side yields and widths. The yields on the near side and on the away side are equal within the uncertainties for all studied event multiplicity and p(T) bins, and the widths show no significant evolution with event multiplicity or p(T). These findings suggest that the near-side ridge is accompanied by an essentially identical away-side ridge. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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| 3. |
- Abelev, Betty, et al.
(författare)
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Measurement of prompt J/psi and beauty hadron production cross sections at mid-rapidity in pp collisions at root s=7 TeV
- 2012
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Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
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Tidskriftsartikel (refereegranskat)abstract
- The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.
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| 4. |
- Attié, David, et al.
(författare)
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A time projection chamber with GEM-based readout
- 2017
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Ingår i: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002. ; 856, s. 109-118
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Tidskriftsartikel (refereegranskat)abstract
- For the International Large Detector concept at the planned International Linear Collider, the use of time projection chambers (TPC) with micro-pattern gas detector readout as the main tracking detector is investigated. In this paper, results from a prototype TPC, placed in a 1. T solenoidal field and read out with three independent Gas Electron Multiplier (GEM) based readout modules, are reported. The TPC was exposed to a 6. GeV electron beam at the DESY II synchrotron. The efficiency for reconstructing hits, the measurement of the drift velocity, the space point resolution and the control of field inhomogeneities are presented.
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| 5. |
- Christensen, Torben, et al.
(författare)
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Factors controlling large scale variations in methane emissions from wetlands
- 2003
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 30:7
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Tidskriftsartikel (refereegranskat)abstract
- [1] Global wetlands are, at estimate ranging 115-237 Tg CH4/yr, the largest single atmospheric source of the greenhouse gas methane (CH4). We present a dataset on CH4 flux rates totaling 12 measurement years at sites from Greenland, Iceland, Scandinavia and Siberia. We find that temperature and microbial substrate availability (expressed as the organic acid concentration in peat water) combined explain almost 100% of the variations in mean annual CH4 emissions. The temperature sensitivity of the CH4 emissions shown suggests a feedback mechanism on climate change that could validate incorporation in further developments of global circulation models.
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| 6. |
- Christensen, Torben R., et al.
(författare)
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Large scale variations in CH4 emissions from wetlands explained by temperature and substrate availability
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Globally, wetlands are at estimates ranging 115-237 Tg C4/yr1 the largest single source of the greenhouse gas CH4 to the atmosphere. Important feedback mechanisms on climate change arising from changing exchanges of C02 between the terrestrial biosphere and the atmosphere have recently been identified2. A related question is how will possible changes in the CH4 emissions from wetlands affect the further development of the greenhouse effect? Here we show using comparable methods in a wide range of wetlands ranging from Greenland to Siberia that regardless the dependency on soil moisture, plant productivity and other factors, temperature is the strongest control and predictor of CH4 emissions across both temporal and large spatial scales. Furthermore, we show that CH4 flux variations not explained by temperature can beattributed to differences in microbial substrate availability (expressed as the organic acid concentration in peat water). Combined, soil temperature and organic acid concentrations explains 99% of the variation in CH4 fluxes between the different sites. The temperature sensitivity of the CH4 emissions shown suggests a strong feedback mechanism on climatechange that should valid incorporation in developments of global circulation models.
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| 7. |
- Ekedahl, Anders, et al.
(författare)
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Impact of postal and telephone reminders on pick-up rates of unclaimed e-prescriptions.
- 2008
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Ingår i: Pharmacy World & Science. - : Springer Netherlands. - 0928-1231 .- 1573-739X. ; 30:5, s. 503-508
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate the impact of a reminder (i.e., a mailed letter or short telephone call) from the pharmacy to patients, compared with no reminder in a control group, on the pick-up rates of unclaimed e-prescriptions. METHOD: Patients, with e-prescriptions transmitted to four large community pharmacies in two counties in northern Sweden and remaining unclaimed after 4 weekdays, were randomised to one of two intervention groups (a mailed reminder or a short telephonic reminder) or a control group. MAIN OUTCOME MEASURES: Rates of patients' pick-up of their e-prescriptions at follow-up after about 1, 2 and 3 weeks. RESULTS: Altogether, 320 patients with e-prescriptions, transmitted from March 21 through April 6 and not picked-up or dispensed, were identified and randomised to the study. There were no statistically significant differences in overall pick-up rates between the groups or with respect to gender. However, pick-up rates increased with increasing age. Higher pick-up rates were observed for two subgroups (but only in the mailed reminder group compared with controls)--for cardiovascular drugs to men and for respiratory drugs to adolescents and young adults. CONCLUSION: A reminder (i.e., a mailed letter or short telephone call) from the pharmacy to the patient had no statistically significant effect on overall pick-up rates of unclaimed e-prescriptions compared with no reminders.
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| 8. |
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| 9. |
- Helgadottir, Anna, et al.
(författare)
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Genome-wide analysis yields new loci associating with aortic valve stenosis
- 2018
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 controls with a follow-up in up to 4,850 cases and 451,731 controls of European ancestry. We identify two new AS loci, on chromosome 1p21 near PALMD (rs7543130; odds ratio (OR) = 1.20, P = 1.2 × 10-22) and on chromosome 2q22 in TEX41 (rs1830321; OR = 1.15, P = 1.8 × 10-13). Rs7543130 also associates with bicuspid aortic valve (BAV) (OR = 1.28, P = 6.6 × 10-10) and aortic root diameter (P = 1.30 × 10-8), and rs1830321 associates with BAV (OR = 1.12, P = 5.3 × 10-3) and coronary artery disease (OR = 1.05, P = 9.3 × 10-5). The results implicate both cardiac developmental abnormalities and atherosclerosis-like processes in the pathogenesis of AS. We show that several pathways are shared by CAD and AS. Causal analysis suggests that the shared risk factors of Lp(a) and non-high-density lipoprotein cholesterol contribute substantially to the frequent co-occurence of these diseases.
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| 10. |
- Howe, LJ, et al.
(författare)
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Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:65, s. 581-
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Tidskriftsartikel (refereegranskat)abstract
- Estimates from genome-wide association studies (GWAS) of unrelated individuals capture effects of inherited variation (direct effects), demography (population stratification, assortative mating) and relatives (indirect genetic effects). Family-based GWAS designs can control for demographic and indirect genetic effects, but large-scale family datasets have been lacking. We combined data from 178,086 siblings from 19 cohorts to generate population (between-family) and within-sibship (within-family) GWAS estimates for 25 phenotypes. Within-sibship GWAS estimates were smaller than population estimates for height, educational attainment, age at first birth, number of children, cognitive ability, depressive symptoms and smoking. Some differences were observed in downstream SNP heritability, genetic correlations and Mendelian randomization analyses. For example, the within-sibship genetic correlation between educational attainment and body mass index attenuated towards zero. In contrast, analyses of most molecular phenotypes (for example, low-density lipoprotein-cholesterol) were generally consistent. We also found within-sibship evidence of polygenic adaptation on taller height. Here, we illustrate the importance of family-based GWAS data for phenotypes influenced by demographic and indirect genetic effects.
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