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- van Rheenen, W, et al.
(författare)
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- 2021
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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- Molnár, Miklós, et al.
(författare)
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Corrosion of bed joint reinforcement in faced single-leaf brick facades - field survey
- 2016
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Ingår i: Brick and Block Masonry: Trends, Innovations and Challenges - Proceedings of the 16th International Brick and Block Masonry Conference, IBMAC 2016. - : CRC Press. - 9781138029996 - 9781498795920 ; , s. 541-546
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Konferensbidrag (refereegranskat)abstract
- Bed joint reinforcement consisting of unprotected carbon steel was widely used to bridge windows and other openings in post-war brick buildings in the Scandinavian countries. Today, cracking caused by reinforcement corrosion constitute an increasing technical and economic problem, since removal of the corroding reinforcement can be both labour intensive and costly. Retrofitting measures are usually only based on an ocular inspection of the crack frequency, which give sub-optimal retrofitting results due to a lack of knowledge concerning the actual corrosion damage in the wall. The extent of retrofitting measures varies between partial removal of reinforcement from cracked joints to the removal of all reinforcement. This practice is problematic, since the level of retrofitting is not related, in a rational way, to the expected future development of the corrosion related damage. The objective of the presented field survey is to increase knowledge about factors influencing corrosion of bed joint reinforcement and by this provide input to development of rational decision making tools concerning retrofitting. The field survey deals with ocular examination of cracking and decay related to corrosion of reinforcement embedded in joints above windows and other openings. The field survey is complemented by examination and measurement of the corrosion depth in reinforcement collected from the field. The results show a strong dependence of crack formation on the corrosion depth of the embedded reinforcement related to differences in hygro-thermal conditions in the facade, that in turn depend on e.g. orientation, height, sheltering and the number of reinforcement bars in the bed joints.
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