10 research outputs found

    Antarctic UV measurements since 2000

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    Póster elaborado para el Quadrennial Ozone Symposium celebrado en Edimburgo del 4 al 9 de septiembre de 2016.The MAR Project was financed by the National R+D Plan of the Spanish Ministry of Science and Technology (National Research Program in the Antarctic) under contract REN2000-0245-C02-01

    Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

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    We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57

    Risk of Recurrent Venous Thromboembolism in Autoimmune Diseases: A Systematic Review of the Literature

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    Despite an abundance of literature on the risk of a first venous thromboembolic event (VTE) in autoimmune diseases, specific recommendations about managing VTE in autoimmune diseases are lacking. This article aimed to collect evidence on the risk of recurrent VTE in patients with autoimmune diseases. The authors searched PubMed/Embase for studies including patients with VTE and autoimmune diseases as an exposure or studies including patients with autoimmune diseases in which recurrent VTE was one of the outcomes. Eleven articles were selected from 4,739 unique abstracts. Of the 11 studies, 3 reported time-dependent rates. Two studies collected rates of recurrence in Behcet's disease, reporting a 5-year recurrence risk between 35 and 40%. However, the 5-year recurrence risk was lower than 10% in patients treated with immunosuppressant medication, while two studies suggested frequent recurrence in patients on only anticoagulant therapy. The other study reporting time-dependent incidence concerned patients with inflammatory bowel disease and index VTE. The 5-year risk of recurrent VTE was 33.4%, yielding a hazard ratio of 1.7 versus controls. All studies were retrospective and therefore risk may overestimate recurrence risk in comparison with known prospective cohort studies. There are insufficient data to make confident recommendations about the management of recurrent VTE prevention in patients with autoimmune diseases in general. The overall VTE risk profile, lower effectiveness of anticoagulants, and the observation that immunosuppression lowered risk of recurrence in patients with Behcet's disease seem to warrant immunosuppressant therapy over anticoagulation as a first consideration when preventing VTE recurrence in these patients

    Risk of Recurrent Venous Thromboembolism in Autoimmune Diseases: A Systematic Review of the Literature

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    Despite an abundance of literature on the risk of a first venous thromboembolic event (VTE) in autoimmune diseases, specific recommendations about managing VTE in autoimmune diseases are lacking. This article aimed to collect evidence on the risk of recurrent VTE in patients with autoimmune diseases. The authors searched PubMed/Embase for studies including patients with VTE and autoimmune diseases as an exposure or studies including patients with autoimmune diseases in which recurrent VTE was one of the outcomes. Eleven articles were selected from 4,739 unique abstracts. Of the 11 studies, 3 reported time-dependent rates. Two studies collected rates of recurrence in Behcet's disease, reporting a 5-year recurrence risk between 35 and 40%. However, the 5-year recurrence risk was lower than 10% in patients treated with immunosuppressant medication, while two studies suggested frequent recurrence in patients on only anticoagulant therapy. The other study reporting time-dependent incidence concerned patients with inflammatory bowel disease and index VTE. The 5-year risk of recurrent VTE was 33.4%, yielding a hazard ratio of 1.7 versus controls. All studies were retrospective and therefore risk may overestimate recurrence risk in comparison with known prospective cohort studies. There are insufficient data to make confident recommendations about the management of recurrent VTE prevention in patients with autoimmune diseases in general. The overall VTE risk profile, lower effectiveness of anticoagulants, and the observation that immunosuppression lowered risk of recurrence in patients with Behcet's disease seem to warrant immunosuppressant therapy over anticoagulation as a first consideration when preventing VTE recurrence in these patients

    Characterization and intercomparison of aerosol absorption photometers: result of two intercomparison workshops [Discussion paper]

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    Absorption photometers for real time application have been available since the 1980s, but the use of filter-based instruments to derive information on aerosol properties (absorption coefficient and black carbon, BC) is still a matter of debate. Several workshops have been conducted to investigate the performance of individual instruments over the intervening years. Two workshops with large sets of aerosol absorption photometers were conducted in 2005 and 2007. The data from these instruments were corrected using existing methods before further analysis. The inter-comparison shows a large variation between the responses to absorbing aerosol particles for different types of instruments. The unit to unit variability between instruments can be up to 30% for Particle Soot Absorption Photometers (PSAPs) and Aethalometers. Multi Angle Absorption Photometers (MAAPs) showed a variability of less than 5%. Reasons for the high variability were identified to be variations in sample flow and spot size. It was observed that different flow rates influence system performance with respect to response to absorption and instrumental noise. Measurements with non absorbing particles showed that the current corrections of a cross sensitivity to particle scattering are not sufficient. Remaining cross sensitivities were found to be a function of the total particle load on the filter. The large variation between the response to absorbing aerosol particles for different types of instruments indicates that current correction functions for absorption photometers are not adequate.The work described in this paper was supported by the EU FP6 Integrated Infrastructures Initiatives (I3) project EUSAAR (European Supersites for Atmospheric Aerosol Research, project FP6-026140), with the EU FP6 Network of Excellence ACCENT (Atmospheric Composition Change: A European Network, project GOCE-CT-2004-505337) and the WMO GAW (Global Atmosphere Watch) program

    ‘To be happy’: Ritual, play, and leisure in the Bengali Dharmarāj pūjā

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    Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

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    Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated (∣r̂ g∣ ~ 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance.</p

    Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

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    Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated (|r^g| ~ 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance

    Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

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    Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10 independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.Medical Research Council (MC_UU_12015/1), Department of Health (via National Institute for Health Research (NIHR)) (NF-SI-0512-10135), MRC (MC_PC_13048), Department of Health (via National Institute for Health Research (NIHR)) (NF-SI-0617-10149
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