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- Wuttke, Matthias, et al.
(författare)
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A catalog of genetic loci associated with kidney function from analyses of a million individuals
- 2019
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Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
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Tidskriftsartikel (refereegranskat)abstract
- Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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| 2. |
- Horn, Anna Catharina
(författare)
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Lov og tekst i middelalderen. Produksjon og resepsjon av Magnus Lagabøtes landslov
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis investigates fifteen out of a total of thirtynine extant manuscripts containing The Norwegian Code of the Realm (1274), henceforth the Code. They are all dated before 1400. The fifteen manuscripts display some kind of harmonization of two particular chapters in the sections on assault and land rent, respectively. I work from the hypothesis that these manuscripts share a common background in a particular exemplar and/or scribal milieu. The thesis has two aims. One is to further our understanding of the relation between the preserved MSS of the Code. The other is to develop a method for analysis of texts which display contamination, or texts that have been transmitted using several exemplars. The analyses are based on parameters that are tied to the production and reception of the Code. The new method is composed of elements from both textual criticism and material philology. The object of study is raised from the level of the word, phrase, or clause to that of the graphic unit of the chapter, defined by elements as initials and rubrics. The chapter is the crucial component upon which the structure of the Code is built. First, a selection of variables regarding codicology, layout, and script are analyzed. Based on the scribes’ ability to execute these features, the manuscripts are sorted into three levels of proficiency. Second, the analysis of the structure of the text shifts to a focus on the order of the chapters. Thus, the structures of the fifteen manuscripts are put into a diagram. The variants are revealed as patterns, which show that the manuscripts have additional variants in common. Nearly all variants relating to rearrangement or interpolation turn out to be attested in earlier regional laws, although by the time when the Code was promulgated, these should presumably have been rendered obsolete. This suggests that the manuscripts derive from a milieu where the Code was seen as a symbiosis of old and new rules, and that older law codes were used as exemplars together with the new Code in order to produce the most convenient Code.
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