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- Savage, J. E., et al.
(författare)
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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:7, s. 912-919
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Tidskriftsartikel (refereegranskat)abstract
- Intelligence is highly heritable 1 and a major determinant of human health and well-being 2 . Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence 3-7, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer's disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.
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- Schindler, S., et al.
(författare)
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Multifunctional floodplain management and biodiversity effects : a knowledge synthesis for six European countries
- 2016
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Ingår i: Biodiversity and Conservation. - : Springer Netherlands. - 0960-3115 .- 1572-9710. ; 25:7, s. 1349-1382
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Tidskriftsartikel (refereegranskat)abstract
- Floodplain ecosystems are biodiversity hotspots and supply multiple ecosystem services. At the same time they are often prone to human pressures that increasingly impact their intactness. Multifunctional floodplain management can be defined as a management approach aimed at a balanced supply of multiple ecosystem services that serve the needs of the local residents, but also those of off-site populations that are directly or indirectly impacted by floodplain management and policies. Multifunctional floodplain management has been recently proposed as a key concept to reconcile biodiversity and ecosystem services with the various human pressures and their driving forces. In this paper we present biophysics and management history of floodplains and review recent multifunctional management approaches and evidence for their biodiversity effects for the six European countries Ireland, the Netherlands, Germany, Slovakia, Hungary and the Ukraine. Multifunctional use of floodplains is an increasingly important strategy in some countries, for instance in the Netherlands and Hungary, and management of floodplains goes hand in hand with sustainable economic activities resulting in flood safety and biodiversity conservation. As a result, biodiversity is increasing in some of the areas where multifunctional floodplain management approaches are implemented. We conclude that for efficient use of management resources and ecosystem services, consensual solutions need to be realized and biodiversity needs to be mainstreamed into management activities to maximize ecosystem service provision and potential human benefits. Multifunctionality is more successful where a broad range of stakeholders with diverse expertise and interests are involved in all stages of planning and implementation.
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- Taskesen, E, et al.
(författare)
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Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
- 2017
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 8899-
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is a neurodegenerative disorder predominantly affecting the frontal and temporal lobes. Genome-wide association studies (GWAS) on FTD identified only a few risk loci. One of the possible explanations is that FTD is clinically, pathologically, and genetically heterogeneous. An important open question is to what extent epigenetic factors contribute to FTD and whether these factors vary between FTD clinical subgroup. We compared the DNA-methylation levels of FTD cases (n = 128), and of FTD cases with Amyotrophic Lateral Sclerosis (FTD-ALS; n = 7) to those of unaffected controls (n = 193), which resulted in 14 and 224 candidate genes, respectively. Cluster analysis revealed significant class separation of FTD-ALS from controls. We could further specify genes with increased susceptibility for abnormal gene-transcript behavior by jointly analyzing DNA-methylation levels with the presence of mutations in a GWAS FTD-cohort. For FTD-ALS, this resulted in 9 potential candidate genes, whereas for FTD we detected 1 candidate gene (ELP2). Independent validation-sets confirmed the genes DLG1, METTL7A, KIAA1147, IGHMBP2, PCNX, UBTD2, WDR35, and ELP2/SLC39A6 among others. We could furthermore demonstrate that genes harboring mutations and/or displaying differential DNA-methylation, are involved in common pathways, and may therefore be critical for neurodegeneration in both FTD and FTD-ALS.
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- Van Der Sluis, S., et al.
(författare)
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Performance indicators for energy efficient supermarket buildings
- 2015
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Ingår i: Refrigeration Science and Technology. - : International Institute of Refrigeration. - 9782362150128 ; , s. 2773-2780
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Konferensbidrag (refereegranskat)abstract
- Performance indicators are needed to transform available measurement data into knowledge on the energy efficiency of a supermarket building. Such indicators are e.g. the supermarket size, the opening hours, the outdoor climate and applied energy saving options. When the energy use is related in to the supermarket size, opening hours, and other performance indicators, it should be possible to appreciate the energy use of the supermarket: is it relatively high, normal, or relatively efficient. IEA HPC Annex 44 "performance indicators for energy efficient supermarket buildings" searches for performance indicators that will allow to evaluate energy efficiency of existing single supermarkets, supermarkets within one chain, supermarkets across different chains and even supermarkets in different regions or countries. Based on new data from the Netherlands, this paper investigates the relation between sales area, opening hours and yearly energy consumption, and discusses other aspects that are needed to understand observed data.
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