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- de Rojas, I., et al.
(author)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Journal article (peer-reviewed)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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- Bellenguez, C, et al.
(author)
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New insights into the genetic etiology of Alzheimer's disease and related dementias
- 2022
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
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Journal article (peer-reviewed)abstract
- Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
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- Westman, B., et al.
(author)
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Patient-reported perceptions of care after the introduction of a new advanced cancer nursing role in Sweden
- 2019
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In: European Journal of Oncology Nursing. - : Elsevier. - 1462-3889 .- 1532-2122. ; 41, s. 41-48
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Journal article (peer-reviewed)abstract
- Purpose: Extensive research results show quality improvements associated with advanced cancer nursing roles. Despite this, these roles are not implemented in many countries. The aim of this cross-sectional, population-based study was to compare patients' perception of care, before and after the introduction of a new advanced nursing role, the coordination contact nurse (CCN), in a region in Sweden.Method: All patients (with gynaecological, haematological, Head & Neck, upper gastrointestinal cancers) diagnosed in the region the year prior and one-year post introducing the new CCN role were identified from the Swedish Cancer Register. Data were collected using the European Organization of Research and Treatment of Cancer (EORTQ Quality of Life Questionnaire (QLQ-C30 and QLQ-INFO25) and a study specific questionnaire.Result: The results, based on baseline (n = 869) and follow-up data (n = 1003), show statistically significant patient-reported improvements after the introduction of the CCN role, regarding health-related patient information (EORTC QLQ- INFO25 global mean score increased from 41.23 to 44.16, p = 0.0006). We found statistically significant improvements related to availability of supportive care resources, e.g. increased reported access to contact nurse (from 53% to 66%, p <= 0.0001) and individual written care plans (from 40% to 54%, p < 0.0001). We also found some improvements related to patient involvement and care coordination, but also room for further developments.Conclusion: The implementation of the new advanced cancer nursing role may have contributed to important improvements, but it has also identified areas in need of development. Further research with long-term evaluations of CCN roles in other contexts, are both needed and on-going.
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