| 1. |
- Davies, G., et al.
(författare)
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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
- 2018
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
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| 2. |
- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 3. |
- Schmidt-Hellerau, K., et al.
(författare)
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Homecare for sick family members while waiting for medical help during the 2014-2015 Ebola outbreak in Sierra Leone : A mixed methods study
- 2020
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Ingår i: BMJ Global Health. - : BMJ Publishing Group Ltd. - 2059-7908. ; 5:7
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Caring for an Ebola patient is a known risk factor for disease transmission. In Sierra Leone during the outbreak in 2014/2015, isolation of patients in specialised facilities was not always immediately available and caring for a relative at home was sometimes the only alternative. This study sought to assess population-level protective caregiving intentions, to understand how families cared for their sick and to explore perceived barriers and facilitators influencing caregiving behaviours. Methods Data from a nationwide household survey conducted in December 2014 were used to assess intended protective behaviours if caring for a family member with suspected Ebola. Their association with socio-demographic variables, Ebola-specific knowledge and risk perception was analysed using multilevel logistic regression. To put the results into context, semi-structured interviews with caregivers were conducted in Freetown. Results Ebola-specific knowledge was positively associated with the intention to avoid touching a sick person and their bodily fluids (adjusted OR (AOR) 1.29; 95% CI 1.01 to 1.54) and the intention to take multiple protective measures (AOR 1.38; 95% CI 1.16 to 1.63). Compared with residing in the mostly urban Western Area, respondents from the initial epicentre of the outbreak (Eastern Province) had increased odds to avoid touching a sick person or their body fluids (AOR 4.74; 95% CI 2.55 to 8.81) and to take more than one protective measure (AOR 2.94; 95% CI 1.37 to 6.34). However, interviews revealed that caregivers, who were mostly aware of the risk of transmission and general protective measures, felt constrained by different contextual factors. Withholding care was not seen as an option and there was a perceived lack of practical advice. Conclusions Ebola outbreak responses need to take the sociocultural reality of caregiving and the availability of resources into account, offering adapted and acceptable practical advice. The necessity to care for a loved one when no alternatives exist should not be underestimated.
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| 5. |
- Lyons, P., et al.
(författare)
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Engaging religious leaders to promote safe burial practices during the 2014–2016 ebola virus disease outbreak, sierra leone
- 2021
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Ingår i: Bulletin of the World Health Organization. - : World Health Organization. - 0042-9686 .- 1564-0604. ; 99:4, s. 271-279
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Tidskriftsartikel (refereegranskat)abstract
- Objective To quantify the potential impact of engaging religious leaders in promoting safe burial practices during the 2014–2016 Ebola virus disease outbreak in Sierra Leone. Methods We analysed population-based household survey data from 3540 respondents collected around the peak of the outbreak in Sierra Leone, December 2014. Respondents were asked if in the past month they had heard an imam or pastor say that people should not touch or wash a dead body. We used multilevel logistic regression modelling to examine if exposure to religious leaders’ messages was associated with protective burial intentions if a family member died at home and other Ebola protective behaviours. Findings Of the respondents, 3148 (89%) had been exposed to faith-based messages from religious leaders on safe Ebola burials and 369 (10%) were unexposed. Exposure to religious leaders’ messages was associated with a nearly twofold increase in the intention to accept safe alternatives to traditional burials and the intention to wait ≥ 2 days for burial teams (adjusted odds ratio, aOR: 1.69; 95% confidence interval, CI: 1.23–2.31 and aOR: 1.84; 95% CI: 1.38–2.44, respectively). Exposure to messages from religious leaders was also associated with avoidance of traditional burials and of contact with suspected Ebola patients (aOR: 1.46; 95% CI: 1.14–1.89 and aOR: 1.65; 95% CI: 1.27–2.13, respectively). Conclusion Public health messages promoted by religious leaders may have influenced safe burial behaviours during the Ebola outbreak in Sierra Leone. Engagement of religious leaders in risk communication should be prioritized during health emergencies in similar settings.
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