| 1. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 2. |
- Abrahamson, Dor, et al.
(författare)
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Moving Forward: In Search of Synergy Across Diverse Views on the Role of Physical Movement in Design for STEM Education
- 2018
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Ingår i: Rethinking Learning in the Digital Age: Making the Learning Sciences Count, 13th International Conference of the Learning Sciences (ICLS) 2018, Volume 2. - : International Society of the Learning Sciences.. - 1573-4552. - 9781732467217
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Konferensbidrag (refereegranskat)abstract
- Inspired by the current embodiment turn in the cognitive sciences, researchers of STEM teaching and learning have been evaluating implications of this turn for educational theory and practice. But whereas design researchers have been developing domain-specific theories that implicate the role of physical movement in conceptual learning, the field has yet to agree on a conceptually coherent and empirically validated framework for leveraging and shaping students’ capacity for physical movement as a socio–cognitive educational resource. This symposium thus convenes to ask, “What is movement in relation to concepts such that we can design for learning?” To stimulate discussion, we highlight an emerging tension across a set of innovative technological designs with respect to the framing question of whether students should discover an activity’s targeted movement forms themselves or that these forms should be cued directly. Our content domains span mathematics (proportions, geometry), physics, chemistry, and ecological system dynamics (predator–prey, bees).
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| 3. |
- Ashar, Foram N., et al.
(författare)
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A comprehensive evaluation of the genetic architecture of sudden cardiac arrest
- 2018
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Ingår i: European Heart Journal. - : Oxford University Press. - 0195-668X .- 1522-9645. ; 39:44, s. 3961-
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Tidskriftsartikel (refereegranskat)abstract
- Aims: Sudden cardiac arrest (SCA) accounts for 10% of adult mortality in Western populations. We aim to identify potential loci associated with SCA and to identify risk factors causally associated with SCA.Methods and results: We carried out a large genome-wide association study (GWAS) for SCA (n = 3939 cases, 25 989 non-cases) to examine common variation genome-wide and in candidate arrhythmia genes. We also exploited Mendelian randomization (MR) methods using cross-trait multi-variant genetic risk score associations (GRSA) to assess causal relationships of 18 risk factors with SCA. No variants were associated with SCA at genome-wide significance, nor were common variants in candidate arrhythmia genes associated with SCA at nominal significance. Using cross-trait GRSA, we established genetic correlation between SCA and (i) coronary artery disease (CAD) and traditional CAD risk factors (blood pressure, lipids, and diabetes), (ii) height and BMI, and (iii) electrical instability traits (QT and atrial fibrillation), suggesting aetiologic roles for these traits in SCA risk.Conclusions: Our findings show that a comprehensive approach to the genetic architecture of SCA can shed light on the determinants of a complex life-threatening condition with multiple influencing factors in the general population. The results of this genetic analysis, both positive and negative findings, have implications for evaluating the genetic architecture of patients with a family history of SCA, and for efforts to prevent SCA in high-risk populations and the general community.
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| 4. |
- Asselbergs, Folkert W., et al.
(författare)
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Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
- 2012
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 91:5, s. 823-838
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TGs), can be identified by a dense gene-centric approach. Our meta-analysis of 32 studies in 66,240 individuals of European ancestry was based on the custom similar to 50,000 SNP genotyping array (the ITMAT-Broad-CARe array) covering similar to 2,000 candidate genes. SNP-lipid associations were replicated either in a cohort comprising an additional 24,736 samples or within the Global Lipid Genetic Consortium. We identified four, six, ten, and four unreported SNPs in established lipid genes for HDL-C, LDL-C, TC, and TGs, respectively. We also identified several lipid-related SNPs in previously unreported genes: DGAT2, HCAR2, GPIHBP1, PPARG, and FTO for HDL-C; SOCS3, APOH, SPTY2D1, BRCA2, and VLDLR for LDL-C; SOCS3, UGT1A1, BRCA2, UBE3B, FCGR2A, CHUK, and INSIG2 for TC; and SERPINF2, C4B, GCK, GATA4, INSR, and LPAL2 for TGs. The proportion of explained phenotypic variance in the subset of studies providing individual-level data was 9.9% for HDL-C, 9.5% for LDL-C, 10.3% for TC, and 8.0% for TGs. This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple SNPs not previously described in established lipid genes and several previously unknown loci. The explained phenotypic variance from this approach was comparable to that from a meta-analysis of GWAS data, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.
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| 5. |
- Bikner-Ahsbahs, Angelika, et al.
(författare)
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Rhythmic instrumental orchestration : Joining two theoretical perspectives in designing an online summer school
- 2022
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Ingår i: Proceedings of the Twelfth Congress of European Research Society in Mathematics Education (CERME12). - : European Society for Research in Mathematics Education. - 9791221025378
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Konferensbidrag (refereegranskat)abstract
- Due to the pandemic situation in 2020 the ERME summer school (YESS10) was designed for an online format using a conference system. Our design choices were based on previous experiences with YESS and the use of the research pentagon as a tool to think about research. This paper elaborates theoretically and empirically the specification of the concept of instrumental orchestration of the pentagon use through its rhythmic implementation into the summer school. Research results indicate that this specification had two main effects: The students described their instrumentation of the pentagon as a structuring tool in various ways. The most relevant pentagon use for the students' experience of growing expertise was listening to and observing how the others used the pentagon.
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| 6. |
- Kattge, Jens, et al.
(författare)
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TRY plant trait database - enhanced coverage and open access
- 2020
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Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
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Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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| 7. |
- McCarthy, Shane, et al.
(författare)
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A reference panel of 64,976 haplotypes for genotype imputation
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1279-1283
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Tidskriftsartikel (refereegranskat)abstract
- We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.
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| 8. |
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| 9. |
- Nilsson, Per, 1967-, et al.
(författare)
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The nature and use of theories in statistics education
- 2018
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Ingår i: International Handbook of Research in Statistics Education. - Cham : Springer. - 9783319661933 - 9783319661957 ; , s. 359-386
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- This chapter presents a literature review of theories used to frame and underpin Statistics Education Research. The aim is to describe, characterize and arrange the nature and use of theories in SER and hint at some potential trends and required directions for further theorizing the SER discipline. The review includes empirical research papers, published from 2004 to 2015, and focuses on students’ learning of statistics or probability at the primary and secondary school level. The number of papers that fulfilled our inclusion criteria was 35.We distinguish five types of theories used in SER: Statistical Product Theories, Statistical Process Theories, Theories with a Didactical Focus, Theories in Mathematics/Science Education and Theories with a Broader Range on Epistemological Aspects. For further theoretical elaboration, we argue that SER pay attention to the relationship between personal and formal views of statistics, to the dynamics between categories or levels in student thinking and to the role of technology and context in the learning of statistics and probability. We end the chapter by thinking through potential benefits of a semantic theory, inferentialism, that has been proposed as underpinning research on statistical inference.
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| 10. |
- 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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| 11. |
- Sarwar, Nadeem, et al.
(författare)
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Interleukin-6 receptor pathways in coronary heart disease : a collaborative meta-analysis of 82 studies
- 2012
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Ingår i: The Lancet. - New York, NY, USA : Elsevier. - 0140-6736 .- 1474-547X. ; 379:9822, s. 1205-1213
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Tidskriftsartikel (refereegranskat)abstract
- Background: Persistent inflammation has been proposed to contribute to various stages in the pathogenesis of cardiovascular disease. Interleukin-6 receptor (IL6R) signalling propagates downstream inflammation cascades. To assess whether this pathway is causally relevant to coronary heart disease, we studied a functional genetic variant known to affect IL6R signalling. Methods: In a collaborative meta-analysis, we studied Asp358Ala (rs2228145) in IL6R in relation to a panel of conventional risk factors and inflammation biomarkers in 125 222 participants. We also compared the frequency of Asp358Ala in 51 441 patients with coronary heart disease and in 136 226 controls. To gain insight into possible mechanisms, we assessed Asp358Ala in relation to localised gene expression and to postlipopolysaccharide stimulation of interleukin 6. Findings: The minor allele frequency of Asp358Ala was 39%. Asp358Ala was not associated with lipid concentrations, blood pressure, adiposity, dysglycaemia, or smoking (p value for association per minor allele >= 0.04 for each). By contrast, for every copy of 358Ala inherited, mean concentration of IL6R increased by 34.3% (95% CI 30.4-38.2) and of interleukin 6 by 14.6% (10.7-18.4), and mean concentration of C-reactive protein was reduced by 7.5% (5.9-9.1) and of fibrinogen by 1.0% (0.7-1.3). For every copy of 358Ala inherited, risk of coronary heart disease was reduced by 3.4% (1.8-5.0). Asp358Ala was not related to IL6R mRNA levels or interleukin-6 production in monocytes. Interpretation: Large-scale human genetic and biomarker data are consistent with a causal association between IL6R-related pathways and coronary heart disease.
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| 12. |
- Schindler, Maike, 1983-, et al.
(författare)
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Affective field during collaborative problem posing and problem solving : a case study
- 2020
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Ingår i: Educational Studies in Mathematics. - : Springer. - 0013-1954 .- 1573-0816. ; 105, s. 303-324
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Tidskriftsartikel (refereegranskat)abstract
- Educators in mathematics have long been concerned about students' motivation, anxiety, and other affective characteristics. Typically, research into affect focuses on one theoretical construct (e.g., emotion, motivation, beliefs, or interest). However, we introduce the termaffective fieldto account for a person's various affective factors (emotions, attitudes, etc.) in their intraplay. In a case study, we use data from an extracurricular, inquiry-oriented collaborative problem posing and problem solving (PP&PS) program, which took place as a 1-year project with four upper secondary school students in Sweden (aged 16-18). We investigated the affective field of one student, Anna, in its social and dynamic nature. The question addressed in this context is:In what ways does an affective field of a student engaging in PP&PS evolve, and what may be explanations for this evolvement?Anna's affective field was dynamic over the course of the program. Her initial anxiety during the PP&PS program was rooted in her prior affective field about mathematics activities, but group collaboration, the feeling of safety and appreciation, together with an increased interest in within-solution PP and openness for trying new things went hand in hand with positive dynamics in her affective field.
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| 13. |
- Schindler, Maike, 1983-, et al.
(författare)
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Sixth-grade students’ reasoning on the order relation of integers as influenced by prior experience : an inferentialist analysis
- 2017
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Ingår i: Mathematics Education Research Journal. - : Springer. - 1033-2170 .- 2211-050X. ; 29:4, s. 471-492
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Tidskriftsartikel (refereegranskat)abstract
- Negative numbers are among the first formalizations students encounter in their mathematics learning that clearly differ from out-of-school experiences. What has not sufficiently been addressed in previous research is the question of how students draw on their prior experiences when reasoning on negative numbers and how they infer from these experiences. This article presents results from an empirical study investigating sixth-grade students’ reasoning and inferring from school-based and out-of-school experiences. In particular, it addresses the order relation, which deals with students’ very first encounters with negative numbers. Here, students can reason in different ways, depending on the experiences they draw on. We study how students reason before a lesson series and how their reasoning is influenced through this lesson series where the number line and the context debts-and-assets are predominant. For grasping the reasoning’s inferential and social nature and conducting in-depth analyses of two students’ reasoning, we use an epistemological framework that is based on the philosophical theory of inferentialism. The results illustrate how the students infer their reasoning from out-of-school and from school-based experiences both before and after the lesson series. They reveal interesting phenomena not previously analyzed in the research on the order relation for integers.
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| 14. |
- Shungin, Dmitry, et al.
(författare)
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New genetic loci link adipose and insulin biology to body fat distribution.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
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Tidskriftsartikel (refereegranskat)abstract
- Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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| 15. |
- Tabiri, S, et al.
(författare)
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- 2021
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