| 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. |
- Peter, Christian, et al.
(författare)
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AGNES : connecting people in a multimodal way
- 2013
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Ingår i: Journal on Multimodal User Interfaces. - : Springer Berlin/Heidelberg. - 1783-7677 .- 1783-8738. ; 7:3, s. 229-245
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Tidskriftsartikel (refereegranskat)abstract
- Western societies are confronted with a number of challenges caused by the increasing number of older citizens. One important aspect is the need and wish of older people to live as long as possible in their own home and maintain an independent life. As people grew older, their social networks disperse, with friends and families moving to other parts of town, other cities or even countries. Additionally, people become less mobile with age, leading to less active participation in societal life. Combined, this normal, age-related development leads to increased loneliness and social isolation of older people, with negative effects on mental and physical health of those people. In the AGNES project, a home-based system has been developed that allows connecting elderly with their families, friends and other significant people over the Internet. As most older people have limited experience with computers and often special requirements on technology, one focus of AGNES was to develop with the users novel technological means for interacting with their social network. The resulting system uses ambient displays, tangible interfaces and wearable devices providing ubiquitous options for interaction with the network, and secondary sensors for additionally generating carefully chosen information on the person to be relayed to significant persons. Evaluations show that the chosen modalities for interaction are well adopted by the users. Further it was found that use of the AGNES system had positive effects on the mental state of the users, compared to the control group without the technology.
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| 3. |
- Riva, Giuseppe, et al.
(författare)
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From intention to action : the role of presence
- 2011
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Ingår i: New ideas in psychology. - Oxford : Elsevier. - 0732-118X .- 1873-3522. ; 29:1, s. 24-37
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Tidskriftsartikel (refereegranskat)abstract
- Recent research in neuroscience has tried to understand human action from two different but converging perspectives: the cognitive and the volitional. On one side, cognitive studies analyze how action is planned and controlled in response to environmental conditions. On the other side, volitional studies analyze how action is planned and controlled by a subject's needs, motives and goals. In this paper we suggest that the notion of presence may be the missing link between these two approaches, explaining how can we differentiate between perception, action and concepts.In particular, a consideration of presence can explain how can we distinguish between a perceived action, a planned or an executed one. We argue that the evolutionary role of presence is the control of agency through the unconscious separation of “internal” and “external” and the enaction/reenaction of intentions.The model makes sense in terms of evolutionary psychology and is beginning to be supported by evidence of the neural and other physical correlates of action, imitation and self-monitoring. Another strength of this model is that it provides testable predictions about how to improve the experience of presence in media: maximal presence in a mediated experience arises from an optimal combination of form and content, able to support the intentions of the user.
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| 4. |
- Waterworth, Eva Lindh, et al.
(författare)
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The ELITE approach to designing IT for the elderly
- 2006
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Ingår i: Gerontechnology. - Eindhoven : International Society for Gerontechnology. - 1569-1101 .- 1569-111X. ; 5:2, s. 99-105
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Tidskriftsartikel (refereegranskat)abstract
- We introduce the MAMA (Mobile Augmented Memory Aid) project, during which we gradually evolved a design approach that we call ELITE. MAMA was focused on older people with some kind of memory and associated communication problems, living in residential homes. The overall goal of the project was to examine how information and communication technology can best be used to support and improve memory and communication capacity in senior users, and in the process provide an aid to sensory and social stimulation. We briefly describe the hardware and software prototypes that have resulted so far, during which process the ELITE approach was evolved. We then present the ELITE design principles developed during the project, as a general approach to designing technology for older users. Note that in this paper, the term ELITE refers only to these design principles and should not be confused with any other organisation or company with a similar name.
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| 5. |
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| 6. |
- Waterworth, John, et al.
(författare)
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Special issue : Presence and interaction
- 2012
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Ingår i: Interacting with computers. - : Elsevier. - 0953-5438 .- 1873-7951. ; 24:4, s. 190-192
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Tidskriftsartikel (refereegranskat)
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| 7. |
- Elks, Cathy E, et al.
(författare)
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1077-85
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Tidskriftsartikel (refereegranskat)abstract
- To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10⁻⁶⁰) and 9q31.2 (P = 2.2 × 10⁻³³), we identified 30 new menarche loci (all P < 5 × 10⁻⁸) and found suggestive evidence for a further 10 loci (P < 1.9 × 10⁻⁶). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.
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| 8. |
- Kolz, Melanie, et al.
(författare)
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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
- 2009
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 5:6, s. e1000504-
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Tidskriftsartikel (refereegranskat)abstract
- Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome-wide association scans from 14 studies totalling 28,141 participants of European descent, resulting in identification of 954 SNPs distributed across nine loci that exceeded the threshold of genome-wide significance, five of which are novel. Overall, the common variants associated with serum uric acid levels fall in the following nine regions: SLC2A9 (p = 5.2×10−201), ABCG2 (p = 3.1×10−26), SLC17A1 (p = 3.0×10−14), SLC22A11 (p = 6.7×10−14), SLC22A12 (p = 2.0×10−9), SLC16A9 (p = 1.1×10−8), GCKR (p = 1.4×10−9), LRRC16A (p = 8.5×10−9), and near PDZK1 (p = 2.7×10−9). Identified variants were analyzed for gender differences. We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women. To further characterize the identified variants, we analyzed their association with a panel of metabolites. rs12356193 within SLC16A9 was associated with DL-carnitine (p = 4.0×10−26) and propionyl-L-carnitine (p = 5.0×10−8) concentrations, which in turn were associated with serum UA levels (p = 1.4×10−57 and p = 8.1×10−54, respectively), forming a triangle between SNP, metabolites, and UA levels. Taken together, these associations highlight additional pathways that are important in the regulation of serum uric acid levels and point toward novel potential targets for pharmacological intervention to prevent or treat hyperuricemia. In addition, these findings strongly support the hypothesis that transport proteins are key in regulating serum uric acid levels.
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| 9. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 10. |
- MacFarlane, Anne, et al.
(författare)
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The e-health implementation toolkit : qualitative evaluation across four European countries
- 2011
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Ingår i: Implementation Science. - : BioMed Central. - 1748-5908. ; 06:122
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Tidskriftsartikel (refereegranskat)abstract
- Background: Implementation researchers have attempted to overcome the research-practice gap in e-health by developing tools that summarize and synthesize research evidence of factors that impede or facilitate implementation of innovation in healthcare settings. The e-Health Implementation Toolkit (e-HIT) is an example of such a tool that was designed within the context of the United Kingdom National Health Service to promote implementation of e-health services. Its utility in international settings is unknown. Methods: We conducted a qualitative evaluation of the e-HIT in use across four countries--Finland, Norway, Scotland, and Sweden. Data were generated using a combination of interview approaches (n = 22) to document e-HIT users' experiences of the tool to guide decision making about the selection of e-health pilot services and to monitor their progress over time. Results: e-HIT users evaluated the tool positively in terms of its scope to organize and enhance their critical thinking about their implementation work and, importantly, to facilitate discussion between those involved in that work. It was easy to use in either its paper- or web-based format, and its visual elements were positively received. There were some minor criticisms of the e-HIT with some suggestions for content changes and comments about its design as a generic tool (rather than specific to sites and e-health services). However, overall, e-HIT users considered it to be a highly workable tool that they found useful, which they would use again, and which they would recommend to other e-health implementers. Conclusion: The use of the e-HIT is feasible and acceptable in a range of international contexts by a range of professionals for a range of different e-health systems.
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