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| 2. |
- Willems, S. M., et al.
(författare)
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Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined sample of 195,180 individuals and identify 16 loci associated with grip strength (P<5 × 10-8) in combined analyses. A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impairment (PEX14, LRPPRC and KANSL1). Mendelian randomization analyses are consistent with a causal effect of higher genetically predicted grip strength on lower fracture risk. In conclusion, our findings provide new biological insight into the mechanistic underpinnings of grip strength and the causal role of muscular strength in age-related morbidities and mortality. © The Author(s) 2017.
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| 3. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 4. |
- Björck, Cecilia, 1970, et al.
(författare)
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Potentials and Challenges in Redesigning Traditional Text Seminars in Doctoral Education in Sweden
- 2023
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Ingår i: Nordisk tidsskrift for utdanning og praksis. - 2535-7697. ; 17:1, s. 72-86
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Tidskriftsartikel (refereegranskat)abstract
- The text seminar has a long and strong tradition in academia, not least in postgraduate education. In these seminars, doctoral students are socialised into the research community to be able to act as researchers in an academic setting. However, research suggests that the traditional and strictly regulated form of doctoral seminars may hinder doctoral students’ learning. In response to this problem, this article presents and discusses an analysis of an attempt to redesign doctoral education seminars in Sweden by a design theoretic approach to learning. The result shows that while certain seminar forms functioned as somewhat limiting for learning, other forms and multimodal resources were able to open for alternative meaning-making and ways of staging the identity of a researcher.
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| 5. |
- Folkersen, Lasse, et al.
(författare)
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Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.
- 2020
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Ingår i: Nature metabolism. - : Springer Science and Business Media LLC. - 2522-5812. ; 2:10, s. 1135-1148
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Tidskriftsartikel (refereegranskat)abstract
- Circulating proteins are vital in human health and disease and are frequently used as biomarkers for clinical decision-making or as targets for pharmacological intervention. Here, we map and replicate protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, resulting in 451 pQTLs for 85 proteins. For each protein, we further perform pathway mapping to obtain trans-pQTL gene and regulatory designations. We substantiate these regulatory findings with orthogonal evidence for trans-pQTLs using mouse knockdown experiments (ABCA1 and TRIB1) and clinical trial results (chemokine receptors CCR2 and CCR5), with consistent regulation. Finally, we evaluate known drug targets, and suggest new target candidates or repositioning opportunities using Mendelian randomization. This identifies 11 proteins with causal evidence of involvement in human disease that have not previously been targeted, including EGF, IL-16, PAPPA, SPON1, F3, ADM, CASP-8, CHI3L1, CXCL16, GDF15 and MMP-12. Taken together, these findings demonstrate the utility of large-scale mapping of the genetics of the proteome and provide a resource for future precision studies of circulating proteins in human health.
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| 6. |
- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 7. |
- Hubrich, Martin, et al.
(författare)
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Feasibility and Functions of Central Venous Catheters versus Peripherally Inserted Central Venous Catheter
- 2019
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Ingår i: Open Journal of Surgery. - 2689-0593. ; 3:2, s. 028-033
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Tidskriftsartikel (refereegranskat)abstract
- Safety, risk of complications and the functional feasibility among diff erent kinds of central venous access are still a matter of debate. Not many clinical trials have reported a comparison of complications and patency of CVCs versus Peripherally Inserted Catheters (PICC) as central venous access for indoor patients with advanced gastrointestinal disorder. The aim of the present study was to compare CVCs and PICCs regarding function, complications and convenience in a controlled clinical study on patients aimed for oncology surgery aimed for cure. Distributions of patients were comparable. Malignant diagnoses were signifi cantly higher among CVC-patients. CVCs and PICCs were used for treatment during equal number of days, without any signifi cant complication rates and with comparable number of days on antibiotics and other potent drugs. The overall cumulative hazard (risk) for treatment interruptions, due to either full-fi lled clinical indications or due to any complication among the subgroups of patients did not diff er. Central Venous Catheter and Peripheral Inserted Central Venous Catheter, for central venous access, did not diff er among consecutive unselected patients with serious gastro-intestinal disorders.
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| 8. |
- Jeppsson, Cecilia, 1967-, et al.
(författare)
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Exploring equal opportunities : Children’s experiences of the Swedish Community School of Music and Arts
- 2018
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Ingår i: Research Studies in Music Education. - : Sage Publications. - 1321-103X .- 1834-5530. ; 40:2, s. 191-210
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Tidskriftsartikel (refereegranskat)abstract
- This article explores the social stratification of the Swedish Community School of Music and Arts, which offers voluntary extra-curricular arts education to children in Sweden, and children’s experiences of attending the school. A survey was executed where sixth-graders in Sweden were asked about their experiences of the school and about background factors such as their gender, country of birth, parents’ level of education and family involvement in the music and arts. The results show that the typical Swedish Community School of Music and Arts student is a Swedish-born girl with well-educated parents. Children of parents who play an instrument or sing are more likely to find their way to the school, and the level of support that parents provide contributes to the children’s persistence in their studies. In sum, the results largely conform to cultural reproduction theory.
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| 9. |
- Johansson, Malin, et al.
(författare)
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Genetic Predisposition to Mosaic Chromosomal Loss Is Associated with Functional Outcome after Ischemic Stroke
- 2021
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Ingår i: Neurology: Genetics. - 2376-7839. ; 7:6
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Tidskriftsartikel (refereegranskat)abstract
- Background and ObjectivesTo test the hypothesis that a predisposition to acquired genetic alterations is associated with ischemic stroke outcome by investigating the association between a polygenic risk score (PRS) for mosaic loss of chromosome Y (mLOY) and outcome in a large international data set.MethodsWe used data from the genome-wide association study performed within the Genetics of Ischemic Stroke Functional Outcome network, which included 6,165 patients (3,497 men and 2,668 women) with acute ischemic stroke of mainly European ancestry. We assessed a weighted PRS for mLOY and examined possible associations with the modified Rankin Scale (mRS) score 3 months poststroke in logistic regression models. We investigated the whole study sample as well as men and women separately.ResultsIncreasing PRS for mLOY was associated with poor functional outcome (mRS score >2) with an odds ratio (OR) of 1.11 (95% confidence interval [CI] 1.03-1.19) per 1 SD increase in the PRS after adjustment for age, sex, ancestry, stroke severity (NIH Stroke Scale), smoking, and diabetes mellitus. In sex-stratified analyses, we found a statistically significant association in women (adjusted OR 1.20, 95% CI 1.08-1.33). In men, the association was in the same direction (adjusted OR 1.04, 95% CI 0.95-1.14), and we observed no significant genotype-sex interaction.DiscussionIn this exploratory study, we found associations between genetic variants predisposing to mLOY and stroke outcome. The significant association in women suggests underlying mechanisms related to genomic instability that operate in both sexes. These findings need replication and mechanistic exploration.
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| 10. |
- Jonsson, Per, 1974, et al.
(författare)
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Suspended particulate matter and its relations to the urban climate in Dar es Salaam, Tanzania
- 2004
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Ingår i: Atmospheric Environment. - : Elsevier BV. - 1352-2310. ; 38:25, s. 4175-4181
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Tidskriftsartikel (refereegranskat)abstract
- Relationships between sources and levels of particulate matter and climatic parameters (urban heat island intensity, wind speed, temperature and relative humidity) were investigated in the coastal city of Dar es Salaam, Tanzania's largest city. Measurements were made during the wet and dry seasons of 2001 at an urban and a rural site. Five elements were used to represent different sources: K in fine particles (biomass), Zn in fine particles (industry), Cl in coarse particles (sea spray), Ti in coarse particles (soil) and Pb in fine particles (traffic). The concentrations of these elements varied considerably between the urban and rural site during both the wet and dry season, with the urban site in the dry season having the highest concentrations. Diurnal differences are also apparent, although not as straightforward. In an attempt to explain these differences, correlations between all elements and the climatic parameters were investigated. The results show that the nocturnal urban heat island intensity was positively correlated and wind speed negatively correlated with particulate levels, presumably due to the increased atmospheric stability. (C) 2004 Elsevier Ltd. All rights reserved.
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