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- Lips, E. S., et al.
(författare)
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Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia
- 2012
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 17:10, s. 996-1006
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Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia is a highly heritable disorder with a polygenic pattern of inheritance and a population prevalence of similar to 1%. Previous studies have implicated synaptic dysfunction in schizophrenia. We tested the accumulated association of genetic variants in expert-curated synaptic gene groups with schizophrenia in 4673 cases and 4965 healthy controls, using functional gene group analysis. Identifying groups of genes with similar cellular function rather than genes in isolation may have clinical implications for finding additional drug targets. We found that a group of 1026 synaptic genes was significantly associated with the risk of schizophrenia (P = 7.6 x 10(-11)) and more strongly associated than 100 randomly drawn, matched control groups of genetic variants (P < 0.01). Subsequent analysis of synaptic subgroups suggested that the strongest association signals are derived from three synaptic gene groups: intracellular signal transduction (P = 2.0 x 10(-4)), excitability (P = 9.0 x 10(-4)) and cell adhesion and trans-synaptic signaling (P = 2.4 x 10(-3)). These results are consistent with a role of synaptic dysfunction in schizophrenia and imply that impaired intracellular signal transduction in synapses, synaptic excitability and cell adhesion and trans-synaptic signaling play a role in the pathology of schizophrenia. Molecular Psychiatry (2012) 17, 996-1006; doi:10.1038/mp.2011.117; published online 20 September 2011
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| 93. |
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| 96. |
- Polderman, T. J. C., et al.
(författare)
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The co-occurrence of autistic and ADHD dimensions in adults : an etiological study in 17,770 twins
- 2014
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Ingår i: Translational Psychiatry. - New York, USA : Nature Publishing Group. - 2158-3188. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) often occur together. To obtain more insight in potential causes for the co-occurrence, this study examined the genetic and environmental etiology of the association between specific ASD and ADHD disorder dimensions. Self-reported data on ASD dimensions social and communication difficulties (ASDsc), and repetitive and restricted behavior and interests (ASDr), and ADHD dimensions inattention (IA), and hyperactivity/impulsivity (HI) were assessed in a community sample of 17,770 adult Swedish twins. Phenotypic, genetic and environmental associations between disorder dimensions were examined in a multivariate model, accounting for sex differences. ASDr showed the strongest associations with IA and HI in both sexes (r(p) 0.33 to 0.40). ASDsc also correlated moderately with IA (females r(p) 0.29 and males r(p) 0.35) but only modestly with HI (females r(p) 0.17 and males r(p) 0.20). Genetic correlations ranged from 0.22 to 0.64 and were strongest between ASDr and IA and HI. Sex differences were virtually absent. The ASDr dimension (reflecting restricted, repetitive and stereotyped patterns of behavior, interests and activities) showed the strongest association with dimensions of ADHD, on a phenotypic, genetic and environmental level. This study opens new avenues for molecular genetic research. As our findings demonstrated that genetic overlap between disorders is dimension-specific, future gene-finding studies on psychiatric comorbidity should focus on carefully selected genetically related dimensions of disorders.
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| 97. |
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| 98. |
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| 100. |
- Posthuma, L., et al.
(författare)
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Exploring the 'solution space' is key: SOLUTIONS recommends an early-stage assessment of options to protect and restore water quality against chemical pollution
- 2019
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Ingår i: Environmental Sciences Europe. - : Springer Science and Business Media LLC. - 2190-4707 .- 2190-4715. ; 31:1
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Tidskriftsartikel (refereegranskat)abstract
- Present evaluations of chemical pollution in European surface and groundwater bodies focus on problem description and chemical classification of water quality. Surprisingly, relatively low attention has been paid to solutions of chemical pollution problems when those are encountered. Based on evaluations of current practices and available approaches, we suggest that water quality protection, monitoring, assessment and management of chemical pollution can be improved by implementing an early-stage exploration of the 'solution space'. This follows from the innovative paradigm of solution-focused risk assessment, which was developed to improve the utility of risk assessments. The 'solution space' is defined as the set of potential activities that can be considered to protect or restore the water quality against hazards posed by chemical pollution. When using the paradigm, upfront exploration of solution options and selecting options that would be feasible given the local pollution context would result in comparative risk assessment outcomes. The comparative outcomes are useful for selecting optimal measures against chemical pollution for management prioritization and planning. It is recommended to apply the solution-focused risk assessment paradigm to improve the chemical pollution information for river basin management planning. To operationalize this, the present paper describes a still-growing database and strategy to find and select technical abatement and/or non-technical solution options for chemical pollution of surface waters. The solutions database and strategy can be applied to help prevent and reduce water quality problems. Various case studies show that implementing these can be effective, and how solution scenarios can be evaluated for their efficacy by comparative exposure and effect assessment.
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