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- Dadaev, T, et al.
(författare)
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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
- 2018
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 2256-
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Tidskriftsartikel (refereegranskat)abstract
- Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.
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- Algurén, Beatrix, et al.
(författare)
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A Multidisciplinary Cross-Cultural Measurement of Functioning After Stroke : Rasch Analysis of the Brief ICF Core Set for Stroke
- 2011
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Ingår i: Topics in Stroke Rehabilitation. - : Informa UK Limited. - 1074-9357 .- 1945-5119. ; 18:6, s. 573-586
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To investigate the possibility of constructing a multiprofessional cross-cultural measure of functioning after stroke across categories of the International Classification of Functioning, Disability and Health (ICF). Method: Data on 757 stroke survivors from China, Germany, Italy, and Sweden, including ratings of 15 categories from the Brief ICF Core Set for stroke, were analyzed using the Rasch model. Unidimensionality, reliability, fit of the ICF categories to the model, ordering of response options of the ICF qualifier, and presence of differential item functioning (DIF) were studied. Results: Of the 15 ICF categories, response options for 7 categories were collapsed, 5 categories were deleted due to misfit, and 4 ICF categories showed DIF for country and were accordingly split into country-specific categories. The proposed final clinical measure consists of 20 ICF categories (6 categories were country-common) with an overall fit statistic of χ2180 = 184.87, P = .386, and a person separation index of r = 0.72, which indicates good reliability. Based on an individual's functioning after stroke, the ratings across the different ICF categories can be summed on an interval scale ranging from 0 to 100. Conclusion: A construction of a cross-cultural clinical measure after stroke based on ICF categories across body functions, structures, and activities and participation was possible. With this kind of clinical measure, stroke survivors' functional levels can be compared even across countries. Despite the promising results, further studies are necessary to develop definitive measures based on ICF categories.
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- Geyh, S, et al.
(författare)
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Content comparison of health-related quality of life measures used in stroke based on the international classification of functioning, disability and health (ICF): a systematic review.
- 2007
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Ingår i: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. - : Springer Science and Business Media LLC. - 0962-9343. ; 16:5, s. 833-51
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To examine and compare the contents of health-related quality of life (HRQoL) measures used in stroke, based on the ICF as the frame of reference. DESIGN: We conducted a systematic literature review to select current generic and condition-specific HRQoL measures applied in stroke. We examined the contents of the selected measures by linking the concepts within the instruments' items to the ICF. RESULTS: The systematic literature review resulted in the selection of six generic and seven stroke-specific HRQoL measures. Within the selected instruments we identified 979 concepts. To map these concepts, we used 200 different ICF categories. None of the ICF categories is contained in all of the instruments. The most frequently used category is 'b152 Emotional functions' contained in 53 items from 10 instruments. Stroke-specific measures more often address 'Mental functions', while the selected generic instruments more often include Environmental Factors. DISCUSSION: The present study provides an overview on current HRQoL measures in stroke with respect to their covered contents and provides valuable information to facilitate the selection of appropriate instruments for specific purposes in clinical as well as research settings.
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