| 1. |
- Chen, Wei-Min, et al.
(författare)
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Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
- 2008
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Ingår i: Journal of Clinical Investigation. - 0021-9738. ; Jun 2, s. 2620-2628
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Tidskriftsartikel (refereegranskat)abstract
- Identifying the genetic variants that regulate fasting glucose concentrations may further our understanding of the pathogenesis of diabetes. We therefore investigated the association of fasting glucose levels with SNPs in 2 genome-wide scans including a total of 5,088 nondiabetic individuals from Finland and Sardinia. We found a significant association between the SNP rs563694 and fasting glucose concentrations (P = 3.5 x 10(-7)). This association was further investigated in an additional 18,436 nondiabetic individuals of mixed European descent from 7 different studies. The combined P value for association in these follow-up samples was 6.9 x 10(-26), and combining results from all studies resulted in an overall P value for association of 6.4 x 10(-33). Across these studies, fasting glucose concentrations increased 0.01-0.16 mM with each copy of the major allele, accounting for approximately 1% of the total variation in fasting glucose. The rs563694 SNP is located between the genes glucose-6-phosphatase catalytic subunit 2 (G6PC2) and ATP-binding cassette, subfamily B (MDR/TAP), member 11 (ABCB11). Our results in combination with data reported in the literature suggest that G6PC2, a glucose-6-phosphatase almost exclusively expressed in pancreatic islet cells, may underlie variation in fasting glucose, though it is possible that ABCB11, which is expressed primarily in liver, may also contribute to such variation.
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| 2. |
- Prokopenko, Inga, et al.
(författare)
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Variants in MTNR1B influence fasting glucose levels
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 77-81
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Tidskriftsartikel (refereegranskat)abstract
- To identify previously unknown genetic loci associated with fasting glucose concentrations, we examined the leading association signals in ten genome-wide association scans involving a total of 36,610 individuals of European descent. Variants in the gene encoding melatonin receptor 1B (MTNR1B) were consistently associated with fasting glucose across all ten studies. The strongest signal was observed at rs10830963, where each G allele (frequency 0.30 in HapMap CEU) was associated with an increase of 0.07 (95% CI = 0.06-0.08) mmol/l in fasting glucose levels (P = 3.2 x 10(-50)) and reduced beta-cell function as measured by homeostasis model assessment (HOMA-B, P = 1.1 x 10(-15)). The same allele was associated with an increased risk of type 2 diabetes (odds ratio = 1.09 (1.05-1.12), per G allele P = 3.3 x 10(-7)) in a meta-analysis of 13 case-control studies totaling 18,236 cases and 64,453 controls. Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci.
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| 3. |
- Östman, Leif E.
(författare)
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A pragmatist theory of design : The impact of the pragmatist philosophy of John Dewey on architecture and design
- 2005
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This study is an inquiry into design-theoretical aspects of architectural design in Finland based mainly on the pragmatist philosophy of John Dewey. The study comprises two case studies. The . rst case deals with a young family designing their future home – a detached house built from prefabricated components – in cooperation with an architect. The second case deals with the design process of a leading Finnish architect, Professor Ilmari Lahdelma, as he prepares his proposal for an architectural competition for a new city library in Lohja, a competition he eventually wins. The case describes and interprets Lahdelma’s design process, the processes of other competition entries made by the of. ce staff, as well as the process of the jury’s evaluation of the competition entries. The two cases are analysed and interwoven with aspects from three different theoretical perspectives: existing design theories, Pierre Bourdieu’s . eld theory and John Dewey’s thinking regarding art and research. In the study I argue that Dewey’s philosophy can provide a framework for a design-theoretical epistemology. I also arrive at conclusions regarding the interpretation of some key design-theoretical concepts and the position of design theory and its structures. I further argue that the Finnish architectural competition system is a strong tool for generating developments in the production of the architectural avant-garde, which acts as the leading light for the rest of the . eld of architecture. The present study also highlights the gap between ‘high-’ and ‘low culture’ in the . eld of architecture, yet points out that the design of a simple family house – assumedly a case of ‘low culture’ – is by no means trivial to the family itself, and is indeed . lled with moments of aesthetic experiences, which is a central issue in Dewey’s description of creative processes.
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