| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Ji, Xuemei, et al.
(författare)
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Protein-altering germline mutations implicate novel genes related to lung cancer development
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio=8.82, P=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
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| 3. |
- Barnes, Paul W., et al.
(författare)
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Ozone depletion, ultraviolet radiation, climate change and prospects for a sustainable future
- 2019
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Ingår i: Nature Sustainability. - : Springer Science and Business Media LLC. - 2398-9629. ; 2:7, s. 569-579
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Forskningsöversikt (refereegranskat)abstract
- © 2019, Springer Nature Limited. Changes in stratospheric ozone and climate over the past 40-plus years have altered the solar ultraviolet (UV) radiation conditions at the Earth’s surface. Ozone depletion has also contributed to climate change across the Southern Hemisphere. These changes are interacting in complex ways to affect human health, food and water security, and ecosystem services. Many adverse effects of high UV exposure have been avoided thanks to the Montreal Protocol with its Amendments and Adjustments, which have effectively controlled the production and use of ozone-depleting substances. This international treaty has also played an important role in mitigating climate change. Climate change is modifying UV exposure and affecting how people and ecosystems respond to UV; these effects will become more pronounced in the future. The interactions between stratospheric ozone, climate and UV radiation will therefore shift over time; however, the Montreal Protocol will continue to have far-reaching benefits for human well-being and environmental sustainability.
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| 4. |
- Botha, Elsie Margaretha, 1983-
(författare)
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Contagious Communications : The role of emotion in viral marketing
- 2014
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The “connection generation” craves interaction with and connection to vast social networks through the sharing of information, photos, opinions, entertainment and news. This sharing comes in the form of electronic word-of-mouth or eWOM, and provides marketing and communication managers with an unparalleled opportunity to reach a large number of consumers quickly. With the ever increasing growth of the internet and the rise of social media and social network sites, viral marketing has cemented itself in the marketing and corporate agenda. However, while there has been a shift in marketing budgets towards online and social media, little is known about how to successfully leverage viral marketing. Consequently, understanding why some videos go viral and others do not is becoming an increasingly popular focus of academic research. This study aimed to answer the following research question: What are the factors that drive the virality of online content? In an attempt to answer this exploratory research question, four papers were used to look at its constituent parts. In the first paper, the role of emotion in the sharing of online content was investigated. Rime’s social sharing of emotion theory was used to explain why emotion could drive the spread of content online. We suggested that people’s propensity to share viral content was a function of the intensity, sociality and complexity of the emotion elicited by the viral content. The following two papers further investigated the role of emotion in viral marketing by looking at the relationship between content and emotion. Paper 2 used interviews in a qualitative research design to propose a decision-tree of the interplay between content and emotion in viral marketing. This paper showed that the relevance of the content has an influence on viewers’ emotional response. Paper 3 took a closer look at the relationship between content and emotion by using a two-stage design: First, content analysis was done on the comments of selected YouTube videos. Second, an experiment was used to test the emotions that these videos elicited in respondents, the valence of those emotions, the intensity with which they were felt, as well as various content-related factors (e.g. the creativity and humor used in the videos). This paper looked specifically at the use of political communication in viral marketing and showed that creativity, valence and the intensity of the emotions elicited by the content are key drivers of viral success. The final and fourth paper culminates in a model for the sharing of content online. This paper built on the findings from the previous papers, but also made use of interviews, and the analysis of a longitudinal dataset to propose a comprehensive model for the spread of content online. The longitudinal dataset was compiled using the top 10 posts from Reddit.com, a viral aggregator website, over the period of 25 days. The comprehensive model shows that there are external, intrapersonal and interpersonal drivers of viral content. The external drivers of viral content are the viral videos themselves (content) and its popularity. The content construct refers to various aspects related to the content itself, for example how informative, creative, humorous etc. the content is. Its popularity, on the other hand, was driven by both WOM and mainstream media reports. The intrapersonal drivers of viral content refer to the emotions that the content elicited in viewers. Viewers’ emotional response to the content was influenced by its relevance, but also by the valence and intensity of the emotion that they felt. Even though some content elicited intense emotions in viewers, some viewers did not share the content and interpersonal drivers of viral content was introduced to the model. These drivers recognise the social aspect of social media, and that content gets shared with large social networks. The model contends that people share viral content with their social networks as a form of online gift giving, out of altruism, or simply to build their own reputation. Finally, we contend that, in this content à emotion à social sharing chain, people share viral content both online and offline, as many respondents simply told their friends about the content (thus prompting them to go and watch the content themselves) or showed them the content themselves. This online and offline sharing of content increased the popularity of the content and a self-reinforcing chain was created, increasing the exponential growth typically associated with viral content. As consumers are exposed to an increasing amount of marketing messages, and marketing budgets shrink, marketing managers could greatly benefit from better understanding how to more effectively make social media part of their marketing strategy. Viral marketing allows for a low-cost way of communicating marketing messages with great potential for impacting the market. This study ultimately shows what marketing managers can do to increase their chances of viral success, and ends off with a list of managerial recommendations to leverage the external, intrapersonal and interpersonal factors present in viral campaigns.
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| 5. |
- Brelsford, Craig C., et al.
(författare)
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Do UV‐A radiation and blue light during growth prime leaves to cope with acute high light in photoreceptor mutants of Arabidopsis thaliana?
- 2019
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Ingår i: Physiologia Plantarum. - : Blackwell Publishing. - 0031-9317 .- 1399-3054. ; 165:3, s. 537-554
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Tidskriftsartikel (refereegranskat)abstract
- We studied how plants acclimated to growing conditions that included combinations of blue light (BL) and ultraviolet (UV)‐A radiation, and whether their growing environment affected their photosynthetic capacity during and after a brief period of acute high light (as might happen during an under‐canopy sunfleck). Arabidopsis thaliana Landsberg erecta wild‐type were compared with mutants lacking functional blue light and UV photoreceptors: phototropin 1, cryptochromes (CRY1 and CRY2) and UV RESISTANT LOCUS 8 (uvr8). This was achieved using light‐emitting‐diode (LED) lamps in a controlled environment to create treatments with or without BL, in a split‐plot design with or without UV‐A radiation. We compared the accumulation of phenolic compounds under growth conditions and after exposure to 30 min of high light at the end of the experiment (46 days), and likewise measured the operational efficiency of photosystem II (ϕPSII, a proxy for photosynthetic performance) and dark‐adapted maximum quantum yield (Fv/Fm to assess PSII damage). Our results indicate that cryptochromes are the main photoreceptors regulating phenolic compound accumulation in response to BL and UV‐A radiation, and a lack of functional cryptochromes impairs photosynthetic performance under high light. Our findings also reveal a role for UVR8 in accumulating flavonoids in response to a low UV‐A dose. Interestingly, phototropin 1 partially mediated constitutive accumulation of phenolic compounds in the absence of BL. Low‐irradiance BL and UV‐A did not improve ϕPSII and Fv/Fm upon our acute high‐light treatment; however, CRYs played an important role in ameliorating high‐light stress.
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| 6. |
- Chipp, Kerry, 1973-
(författare)
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Deconstructing value : The role of resource access in determining value processes and value outcomes at different stages of the consumption journey
- 2019
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Defining value has been an ongoing task for marketing scholars. Some researchers assert that the difficulty of gaining consensus on value is because value is multidimensional while the discipline attempts to view it holistically. Value has been deconstructed into a three spheres and occasions, namely the provider sphere, the joint sphere and the customer sphere. The current research sought to build on their model. Here it is posited that different value outcomes occur at different stages of the consumption process. The central question is therefore: is value better understood as a series of outcomes across the consumption journey than one holistic evaluation?Extant literature has increasingly sought to formalise how context shapes value. Value is created by integrating resources, and resources are not evenly distributed in any society. The current research has incorporated resource access and individual agency as the processes of value creation that shape value outcomes. The following research questions emerged: RQ1: How does resource access affect consumer agency and power?RQ2: How can resource networks be used to design a value proposition?RQ3: How does differential access to resources impact value during the acquisition process?RQ4: How can active resource destruction provide value outcomes? The empirical part of this research covered four papers, one of which was a conceptual paper. Two followed the interpretivist paradigm and a qualitative approach. Such an approach is strongly advocated in the literature on value. A fourth utilised the objective paradigm and followed a quantitative approach. Each approach was deemed best to suit the research question.The contribution to the body of knowledge is to establish how resources influence value creation processes and outcomes in three separate stages of the consumption lifecycle: value proposition development, value-in-acquisition and value-in-disposal. An additional sphere, termed the consumer sphere, was added to Grönroos and Voima’s existing three spheres (producer, joint and customer).The document is organised as an overall introduction to the research narrative of four related published papers. The document opens with a chapter providing an overview, followed by a chapter on the literature review, a methods chapter and a chapter of findings. The four papers follow under Chapter 5 at the end. Three of these papers have been published; one is being revised to be resubmitted.
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| 7. |
- Comont, David, et al.
(författare)
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Exploring latitudinal variation in UV radiation and climate : impacts on a model grass system
- 2011
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Ingår i: Abstracts of the 1st Annual Meeting of COST Action FA0906 UV4growth. - Szeged : Biological Research Center of the Hungarian Academy of Sciences. - 9789635086061 ; , s. 14-14
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Konferensbidrag (refereegranskat)abstract
- Perennial ryegrass (Lolium perenne) seedlings were grown at 14 European locations across a latitudinal gradient spanning 37 to 68°N. Seedlings planted in nutrient enriched vermiculite were grown outdoors over five weeks between the 29th June and the 3rd August 2010. At each location there were three treatments – open, filtered with cellulose acetate (UV transparent) and filtered with Mylar (UV opaque). Plants were regularly watered and outdoor climatic conditions were monitored at nearby meteorological stations. The aim of the experiment was to assess the significance of ambient UV radiation to L.perenne, both at each location and across the gradient in terms of aboveground biomass, tiller number, and the level of UV protective plant pigments. Material was further screened using metabolite fingerprinting (FT-IR spectroscopy) to assess local, regional and latitudinal variation in total plant chemistry. Data presented will explore and interpret the complex variations in growth and chemistry looking at local responses and the latitudinal gradient explored.
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| 8. |
- Comont, David, et al.
(författare)
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UV responses of Lolium perenne raised along a latitudinal gradient across Europe : a filtration study
- 2012
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Ingår i: Physiologia Plantarum. - : Wiley-Blackwell. - 0031-9317 .- 1399-3054. ; 145, s. 604-618
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Tidskriftsartikel (refereegranskat)abstract
- Lolium perenne (cv. AberDart) was grown at 14 locations along a latitudinal gradient across Europe (37–68◦N) to study the impact of ultraviolet radiation (UV) and climate on aboveground growth and foliar UV-B absorbing compounds. At each location, plants were grown outdoors for 5 weeks in a replicated UV-B filtration experiment consisting of open, UV-B transparent (cellulose diacetate) and UV-B opaque (polyester) environments. Fourier transform-infrared spectroscopy was used to compare plantmetabolite profiles in relation to treatment and location. UV radiation and climatic parameters were determined for each location from online sources and the data were assessed using a combination of ANOVA and multiple regression analyses. Most of the variation in growth between the locations was attributable to the combination of climatic parameters, with minimum temperature identified as an important growth constraint. However, no single environmental parameter could consistently account for the variability in plant growth. Concentrations of foliar UV-B absorbing compounds showed a positive trend with solar UV across the latitudinal gradient; however, this relationship was not consistent in all treatments. The most striking experimental outcome from this study was the effect of presence or absence of filtration frames onUV-absorbing compounds. Overall, the study demonstrates the value of an European approach in studying the impacts of natural UV across a large latitudinal gradient. We have shown the feasibility of coordinated UV filtration at multiple sites but have also highlighted the need for open controls and careful interpretation of plant responses.
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| 9. |
- Conrad, Donald F., et al.
(författare)
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Origins and functional impact of copy number variation in the human genome
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 704-712
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Tidskriftsartikel (refereegranskat)abstract
- Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy number variations (CNVs) greater than 443 base pairs, of which most (8,599) have been validated independently. For 4,978 of these CNVs, we generated reference genotypes from 450 individuals of European, African or East Asian ancestry. The predominant mutational mechanisms differ among CNV size classes. Retrotransposition has duplicated and inserted some coding and non-coding DNA segments randomly around the genome. Furthermore, by correlation with known trait-associated single nucleotide polymorphisms (SNPs), we identified 30 loci with CNVs that are candidates for influencing disease susceptibility. Despite this, having assessed the completeness of our map and the patterns of linkage disequilibrium between CNVs and SNPs, we conclude that, for complex traits, the heritability void left by genome-wide association studies will not be accounted for by common CNVs.
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| 10. |
- Jansen, Marcel A. K., et al.
(författare)
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Environmental plastics in the context of UV radiation, climate change, and the Montreal Protocol
- 2024
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Ingår i: Global Change Biology. - : John Wiley & Sons. - 1354-1013 .- 1365-2486. ; 30:4
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Tidskriftsartikel (refereegranskat)abstract
- There are close links between solar UV radiation, climate change, and plastic pollution. UV-driven weathering is a key process leading to the degradation of plastics in the environment but also the formation of potentially harmful plastic fragments such as micro- and nanoplastic particles. Estimates of the environmental persistence of plastic pollution, and the formation of fragments, will need to take in account plastic dispersal around the globe, as well as projected UV radiation levels and climate change factors.image
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