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| 2. |
- Neumann, A., et al.
(författare)
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Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation
- 2022
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 27
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Tidskriftsartikel (refereegranskat)abstract
- Alzheimer's disease (AD) biomarkers represent several neurodegenerative processes, such as synaptic dysfunction, neuronal inflammation and injury, as well as amyloid pathology. We performed an exome-wide rare variant analysis of six AD biomarkers (beta-amyloid, total/phosphorylated tau, NfL, YKL-40, and Neurogranin) to discover genes associated with these markers. Genetic and biomarker information was available for 480 participants from two studies: EMIF-AD and ADNI. We applied a principal component (PC) analysis to derive biomarkers combinations, which represent statistically independent biological processes. We then tested whether rare variants in 9576 protein-coding genes associate with these PCs using a Meta-SKAT test. We also tested whether the PCs are intermediary to gene effects on AD symptoms with a SMUT test. One PC loaded on NfL and YKL-40, indicators of neuronal injury and inflammation. Four genes were associated with this PC: IFFO1, DTNB, NLRC3, and SLC22A10. Mediation tests suggest, that these genes also affect dementia symptoms via inflammation/injury. We also observed an association between a PC loading on Neurogranin, a marker for synaptic functioning, with GABBR2 and CASZ1, but no mediation effects. The results suggest that rare variants in IFFO1, DTNB, NLRC3, and SLC22A10 heighten susceptibility to neuronal injury and inflammation, potentially by altering cytoskeleton structure and immune activity disinhibition, resulting in an elevated dementia risk. GABBR2 and CASZ1 were associated with synaptic functioning, but mediation analyses suggest that the effect of these two genes on synaptic functioning is not consequential for AD development.
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| 3. |
- de Jong, H W, et al.
(författare)
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The influence of backscatter material on 99mTc and 201Tl line source responses
- 1999
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Ingår i: Physics in Medicine and Biology. - 1361-6560. ; 44:3, s. 665-679
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Tidskriftsartikel (refereegranskat)abstract
- SPECT projections are contaminated by scatter, resulting in reduced image contrast and quantitative errors. When tissue is present behind the source, some of the detected photons backscatter via this tissue. Particularly in dual-isotope SPECT and in combined emission-transmission SPECT, backscatter constitutes a major part of the down-scatter contamination in lower-energy windows. In this paper, the effects of backscatter material were investigated. Planar images of 99mTc and 201Tl line sources between varying numbers of Perspex slabs were analysed using the photopeak windows and various scatter windows. In the 99mTc photopeak window no significant change in total counts due to backscatter material was measured. In the 201Tl photopeak window an increase of about 10% in total counts was observed. In the scatter windows an even more explicit influence of backscatter material was measured. For instance, at a forward depth of 10 cm, total counts of a 99mTc source detected in the 72 keV window eventually doubled with increasing backscatter material, compared with the situation without backscatter material. The backscatter contribution plateaued when more than 5-10 cm of scatter material was placed behind the source. In conclusion, backscatter should be taken into account, particularly in model-based down-scatter correction methods in dual-isotope SPECT and combined emission-transmission SPECT.
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| 6. |
- Strazisar, M, et al.
(författare)
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MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets
- 2015
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Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 20:4, s. 472-481
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Tidskriftsartikel (refereegranskat)abstract
- Sequence analysis of 13 microRNA (miRNA) genes expressed in the human brain and located in genomic regions associated with schizophrenia and/or bipolar disorder, in a northern Swedish patient/control population, resulted in the discovery of two functional variants in the MIR137 gene. On the basis of their location and the allele frequency differences between patients and controls, we explored the hypothesis that the discovered variants impact the expression of the mature miRNA and consequently influence global mRNA expression affecting normal brain functioning. Using neuronal-like SH-SY5Y cells, we demonstrated significantly reduced mature miR-137 levels in the cells expressing the variant miRNA gene. Subsequent transcriptome analysis showed that the reduction in miR-137 expression led to the deregulation of gene sets involved in synaptogenesis and neuronal transmission, all implicated in psychiatric disorders. Our functional findings add to the growing data, which implicate that miR-137 has an important role in the etiology of psychiatric disorders and emphasizes its involvement in nervous system development and proper synaptic function.
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| 7. |
- Staland Nyman, Carin, 1963, et al.
(författare)
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Gender equality in domestic work and sickness absence-a population-based study on women and men in Sweden
- 2021
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Ingår i: Women & Health. - Philadelphia : Informa UK Limited. - 0363-0242 .- 1541-0331. ; 61:4
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Tidskriftsartikel (refereegranskat)abstract
- Division of domestic work by gender has been discussed as part of the explanation why women present a higher sickness absence rate than men. This study aimed to examine the association between gender equality in domestic work and sickness absence. Data from 2,609 co-habiting women and men (aged 19-64) collected in a general population in Sweden were used. Associations between different measures of gender equality in domestic work and numbers of sick-leave days were analyzed with logistic regression analysis adjusted for age, children, and paid work. Results show that women reported lower levels of gender equality than men did. Satisfaction with division of domestic work was in the final model associated with lower odds ratio (OR) for sickness absence in men irrespective of number of days. Work-family conflicts were associated with higher ORs for sickness absence in men, 1-7 sick-leave days (OR 1.51 (CI 1.04-2.18)), and in women, 8-30 days (OR 1.51 (1.00-2.33)). More knowledge on the meaning of gender equality in domestic work in relation to sickness absence for women and men are important for future prevention activities.
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