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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- Barreflod, Olle, et al.
(författare)
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Studying the ability to use sport watches when running - insights from a small pilot study
- 2022
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Ingår i: ECIS 2022 Research-in-Progress Papers.
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Konferensbidrag (refereegranskat)abstract
- Digitalization is a phenomenon that seems to affect all aspects of contemporary society. The sports domain is by no means excluded from this development. In sports, the sport watch might be one of the most iconic symbols in how digitalization has enhanced, changed and developed how physical activities are experienced and measured. Despite the massive adoption of sport watches among runners and other athletes, few studies have explored how sports watches are used in the specific activity they are designed for. The study presented in this research in progress paper is small and should be viewed as a small attempt to outline an approach to study digital technology use in sports activities.
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3. |
- Eklund, Mona, et al.
(författare)
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Daily activities mediate the relationship between personality and quality of life in middle-aged women
- 2010
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Ingår i: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 19:10, s. 1477-1486
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: The aim of this study was to test a model proposing that the relationship between personality factors and women's quality of life (QoL) is mediated by degree of depression and the way in which every day activity and general health were appraised. Specifically, the paper addressed the mediating contribution of activity. METHODS: A sample of 488 women, 38 or 50 years old, filled out questionnaires regarding the target variables. The personality traits measured were extraversion and neuroticism, and the activity aspect addressed was the value linked with everyday activities. Additionally, general health and depressive state was rated. Structural equation modeling was used to analyze the data. RESULTS: A model was found where health, activity and depressive state mediated the association between personality and QoL. Health explained in total nearly 30% of the variation in QoL. Activity predicted 12% of the variance in QoL, partly as a unique factor and partly mediated by depressive state and health. Extraversion was linked to QoL only through activity, and neuroticism through depressive state and health. CONCLUSIONS: Our analysis supported that there was a link between personality and QoL and that perceived general health was an important contributor to QoL. Moreover, it contributed new knowledge regarding the importance of valued and satisfying activities. If this proves to be a consistent finding in future studies, including intervention research, monitoring women's daily activities might be a pathway to improved QoL.
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4. |
- Falk Erhag, Hanna, et al.
(författare)
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Concluding Remarks
- 2022
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Ingår i: A Multidisciplinary Approach to Capability in Age and Ageing. - Chem : Springer. - 9783030780654 ; 18:2, s. 143-144
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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5. |
- Henriksson, Aron, et al.
(författare)
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Synonym Extraction of Medical Terms from Clinical Text Using Combinations of Word Space Models
- 2012
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Ingår i: Proceedings of the 5th International Symposium on Semantic Mining in Biomedicine (SMBM 2012). - 9783033038233 ; 2012, s. 10-17
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Konferensbidrag (refereegranskat)abstract
- In information extraction, it is useful to know if two signifiers have the same or very similar semantic content. Maintaining such information in a controlled vocabulary is, however, costly. Here it is demonstrated how synonyms of medical terms can be extracted automatically from a large corpus of clinical text using distributional semantics. By combining Random Indexing and Random Permutation, different lexical semantic aspects are captured, effectively increasing our ability to identify synonymic relations between terms. 44% of 340 synonym pairs from MeSH are successfully extracted in a list of ten suggestions. The models can also be used to map abbreviations to their full-length forms; simple pattern-based filtering of the suggestions yields substantial improvements.
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6. |
- Hober, Sophia, Professor, 1965-, et al.
(författare)
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Systematic evaluation of SARS-CoV-2 antigens enables a highly specific and sensitive multiplex serological COVID-19 assay
- 2021
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Ingår i: Clinical & Translational Immunology. - : Wiley. - 2050-0068. ; 10:7
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Tidskriftsartikel (refereegranskat)abstract
- Objective. The COVID-19 pandemic poses an immense need for accurate, sensitive and high-throughput clinical tests, and serological assays are needed for both overarching epidemiological studies and evaluating vaccines. Here, we present the development and validation of a high-throughput multiplex bead-based serological assay. Methods. More than 100 representations of SARS-CoV-2 proteins were included for initial evaluation, including antigens produced in bacterial and mammalian hosts as well as synthetic peptides. The five best-performing antigens, three representing the spike glycoprotein and two representing the nucleocapsid protein, were further evaluated for detection of IgG antibodies in samples from 331 COVID-19 patients and convalescents, and in 2090 negative controls sampled before 2020. Results. Three antigens were finally selected, represented by a soluble trimeric form and the S1-domain of the spike glycoprotein as well as by the C-terminal domain of the nucleocapsid. The sensitivity for these three antigens individually was found to be 99.7%, 99.1% and 99.7%, and the specificity was found to be 98.1%, 98.7% and 95.7%. The best assay performance was although achieved when utilising two antigens in combination, enabling a sensitivity of up to 99.7% combined with a specificity of 100%. Requiring any two of the three antigens resulted in a sensitivity of 99.7% and a specificity of 99.4%. Conclusion. These observations demonstrate that a serological test based on a combination of several SARS-CoV-2 antigens enables a highly specific and sensitive multiplex serological COVID-19 assay.
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7. |
- Ried, Janina S., et al.
(författare)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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9. |
- Ytreberg, Erik, et al.
(författare)
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Influence of salinity and organic matter on the toxicity of Cu to a brackish water and marine clone of the red macroalga Ceramium tenuicorne
- 2011
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Ingår i: Ecotoxicology and Environmental Safety. - : Elsevier BV. - 0147-6513 .- 1090-2414. ; 74:4, s. 636-642
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Tidskriftsartikel (refereegranskat)abstract
- Cu is a major active component in anti-fouling paints, which may reach toxic levels in areas with intense boat traffic and therefore is a metal of environmental concern. The bioavailability of metals is influenced by factors such as salinity and organic matter measured as total organic carbon (TOC). The influence of these two factors was studied, with a focus on brackish water conditions, by exposing a marine and a brackish water clone of the red macroalga Ceramium tenuicorne to Cu in different combinations of artificial seawater (salinity 5–15‰) and TOC (0–4 mg/L) in the form of fulvic acid (FA). In addition, the toxicity of Cu to both clones was compared in salinity 10‰ and 15‰. The results show that by increasing TOC from 0 to 2 and 4 mg/L, Cu was in general less toxic to both algal clones at all salinities tested (p<0.05). The effect of salinity on Cu toxicity was not as apparent, both a positive and negative effect was observed. The brackish water clone showed generally to be more sensitive to Cu in salinity 10‰ and 15‰ than the marine counterpart. In conclusion, FA reduced the Cu toxicity overall. The Cu tolerance of both strains at different salinities may reflect their origin and their adaptations to marine and brackish water.
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10. |
- Zou, Zhiyuan V., et al.
(författare)
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Genomic profiling of the transcription factor Zfp148 and its impact on the p53 pathway
- 2020
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Recent data suggest that the transcription factor Zfp148 represses activation of the tumor suppressor p53 in mice and that therapeutic targeting of the human orthologue ZNF148 could activate the p53 pathway without causing detrimental side effects. We have previously shown that Zfp148 deficiency promotes p53-dependent proliferation arrest of mouse embryonic fibroblasts (MEFs), but the underlying mechanism is not clear. Here, we showed that Zfp148 deficiency downregulated cell cycle genes in MEFs in a p53-dependent manner. Proliferation arrest of Zfp148-deficient cells required increased expression of ARF, a potent activator of the p53 pathway. Chromatin immunoprecipitation showed that Zfp148 bound to the ARF promoter, suggesting that Zfp148 represses ARF transcription. However, Zfp148 preferentially bound to promoters of other transcription factors, indicating that deletion of Zfp148 may have pleiotropic effects that activate ARF and p53 indirectly. In line with this, we found no evidence of genetic interaction between TP53 and ZNF148 in CRISPR and siRNA screen data from hundreds of human cancer cell lines. We conclude that Zfp148 deficiency, by increasing ARF transcription, downregulates cell cycle genes and cell proliferation in a p53-dependent manner. However, the lack of genetic interaction between ZNF148 and TP53 in human cancer cells suggests that therapeutic targeting of ZNF148 may not increase p53 activity in humans.
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