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- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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- Zhou, XP, et al.
(författare)
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Non-coding variability at the APOE locus contributes to the Alzheimer's risk
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3310-
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Tidskriftsartikel (refereegranskat)abstract
- Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only risk factor in the APOE locus, it does not fully explain the risk effect conferred by the locus. Here, we report the identification of AD causal variants in PVRL2 and APOC1 regions in proximity to APOE and define common risk haplotypes independent of APOE-ε4 coding change. These risk haplotypes are associated with changes of AD-related endophenotypes including cognitive performance, and altered expression of APOE and its nearby genes in the human brain and blood. High-throughput genome-wide chromosome conformation capture analysis further supports the roles of these risk haplotypes in modulating chromatin states and gene expression in the brain. Our findings provide compelling evidence for additional risk factors in the APOE locus that contribute to AD pathogenesis.
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| 8. |
- Khorram-Manesh, Amir, 1958, et al.
(författare)
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Education in Disaster Management: What Do We Offer and What Do We Need? Proposing a New Global Program.
- 2016
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Ingår i: Disaster Medicine and Public Health Preparedness. - : Cambridge University Press (CUP). - 1935-7893 .- 1938-744X. ; 10:6, s. 854-873
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Although there is a significant willingness to respond to disasters, a review of post-event reports following incidents shows troubling repeated patterns with poorly integrated response activities and response managers inadequately trained for the requirements of disasters. This calls for a new overall approach in disaster management. METHODS: An in-depth review of the education and training opportunities available to responders and disaster managers has been undertaken, as well as an extensive review of the educational competencies and their parent domains identified by subject matter experts as necessary for competent performance. RESULTS: Seven domains of competency and competencies that should be mastered by disaster mangers were identified. This set of domains and individual competencies was utilized to define a new and evolving curriculum. In order to evaluate and assess the mastery of each competency, objectives were more widely defined as activities under specific topics, as the measurable elements of the curriculum, for each managerial level. CONCLUSIONS: This program enables interagency cooperation and collaboration and could be used to increase and improve decision-makers' understanding of disaster managers' capabilities; at the strategic/tactical level to promote the knowledge and capability of the disaster managers themselves; and as continuing education or further career development for disaster managers at the operational level. (Disaster Med Public Health Preparedness. 2016;page 1 of 20).
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- Ingason, A, et al.
(författare)
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Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia
- 2015
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 5, s. e656-
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Tidskriftsartikel (refereegranskat)abstract
- Antagonists of the N-methyl-D-aspartate (NMDA)-type glutamate receptor induce psychosis in healthy individuals and exacerbate schizophrenia symptoms in patients. In this study we have produced an animal model of NMDA receptor hypofunction by chronically treating rats with low doses of the NMDA receptor antagonist MK-801. Subsequently, we performed an expression study and identified 20 genes showing altered expression in the brain of these rats compared with untreated animals. We then explored whether the human orthologs of these genes are associated with schizophrenia in the largest schizophrenia genome-wide association study published to date, and found evidence for association for 4 out of the 20 genes: SF3B1, FOXP1, DLG2 and VGLL4. Interestingly, three of these genes, FOXP1, SF3B1 and DLG2, have previously been implicated in neurodevelopmental disorders.
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