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- Albrechtsen, A., et al.
(författare)
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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
- 2013
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Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 0012-186X .- 1432-0428. ; 56:2, s. 298-310
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Tidskriftsartikel (refereegranskat)abstract
- Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) > 1% with common metabolic phenotypes. The study comprised three stages. We performed medium-depth (8x) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI > 27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p < 0.05) with case-control status, from four selected annotation categories or from loci reported to associate with metabolic traits. These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). In stage 3, polymorphisms showing potential associations were genotyped in a further 63,896 Europeans. Exome sequencing identified 70,182 polymorphisms with MAF > 1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p = 8.5 x 10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p = 1.2 x 10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p = 8.2 x 10(-10)). We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.
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| 2. |
- Charpentier, Claes
(författare)
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Budgetary Participation in a Public Service Organization
- 1998
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- In this study the phenomenon of budgetary participation is analyzed. The theories in budgetary participation are described and elaborated. This is a case study and the case is a public service organization, namely the Post Office in Sweden. Empirically two specific research questions are focused. The first question is the relationships between budget participation and some other budget concepts. These other concepts are the budget style and the budget method. Therefore, the relationships between budget style and participation as well as the choice of budget method and participation were investigated. The results were that the extent of budgetary participation changed from time to time during the four-year research period dependent on the budget style in use. When the extent of participation changed the budget method also changed. The second research question is the effects of budgetary participation. The effects on the performance and motivation of the subordinate managers are analyzed. A certain relationship between a lower extent of participation and a higher level of performance can be established in this case, although it may appear strange. The negative relationship probably depends on the fact that the studied organization was in a crisis situation due to the lack of profitability. The relationship is, therefore, dependent on the situation. Thus, the relationship became different from "conventional wisdom" in budget theory, expressed through certain budget literature, for example Becker & Green (1962). The result, nevertheless, agrees with some later research reports which have shown that the relationship is situation-dependent. In this case, the contingent factor is the profitability situation of the organization. Even a certain relationship between a lower extent of BP and a higher level of motivation existed in this case. Also this result appeared to be situation dependent. The contingent factor was to what degree the budget objectives were experienced as being challenging.
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| 3. |
- Charpentier, Claes
(författare)
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Ekonomisk styrning av offentligt ägda organisationer
- 1993
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Ingår i: Redovisningens roller. - Stockholm : Handelshögskolan i Stockholm, EFI. - 917258372X - 9789172583726 ; , s. 136-148
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- De flesta organisationer har många typer av uppgifter, d.v.s. deras uppgiftsstruktur är komplex liksom deras målstruktur. I synnerhet gäller detta offentliga organisationer som både skall vara självfinansierade och utföra olönsamma uppgifter av public service-karaktär. Med det senare avses att de skall utföra uppgifter av regionala och sociala skäl. Exempel på sådana typer av organisationer är de statliga affärsverken. Dessa Verk har en mellanställning mellan affärsmässiga organisationer och statliga myndigheter.
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