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- 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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- Bellenguez, C, et al.
(författare)
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New insights into the genetic etiology of Alzheimer's disease and related dementias
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
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Tidskriftsartikel (refereegranskat)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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- Swed, S., et al.
(författare)
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NHANES cross sectional study of aspirin and fractures in the elderly
- 2023
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Bone fractures are a global public health concern, yet no thorough investigation of low-dose aspirin usage to prevent fractures in the elderly has been conducted. Many interventional human and animal studies have tried to detect the correct role of low-dose aspirin on fractures in elderly persons. The literature doesn't consist of a retrospective observational study that includes a large number of older individuals and evaluates the accurate effect of aspirin on the fractures post falling from low heights. This cross-sectional includes 7132 elderly persons and aimed to detect if there was a link between taking low-dose aspirin to prevent fractures in the elderly. Data was extracted from the National Health and Nutrition Examination Survey (NHANES) database for 2017–2020 and 2013–2014. Demographic and examination data were collected during in-home interviews and study visits to a mobile examination center. Standardized questionnaires were used to collect information such as age, gender, race, educational level, and family income-to-poverty ratio. Body mass index (BMI), weight, standing height, upper leg length, upper arm length, arm circumference, and wrist circumference were all measured during the examination. The study examined 8127 patients, with 7132 elderly patients suitable for data analysis. The odds ratio of fractures due to a fall from standing height or less was 0.963 (95 percent confidence interval 0.08–1.149) in low-dose aspirin users, while having parents with osteoporosis had a related risk of 1.23. (95 percent confidence interval 0.81–1.8). The total number of fractures was 1295; with hip fractures constituting up to 13.82%, wrist fractures of 66.56%, and spine fractures of 19.61%. There was no significant difference in femur and spine bone mineral density (BMD) in the two groups (use low dose aspirin and don't use). Females had a 5.6 times greater fracture risk related to a fall from standing height or less (1 time or more) than males (P-value < 0.001). Furthermore, taking aspirin had no effect on the occurrence of fractures from standing height or less in older people (P-value = 0.468). In addition, the logistic regression after performing the propensity matching score confirmed that there was no impact of taking aspirin on the occurrence of fractures (P-value > 0.05). This cross-sectional study reveals that taking low-dose aspirin to prevent fractures in the elderly is statistically insignificant. However, fractures are more common in older persons, especially in older women; thus, more widespread injury prevention initiatives and access to osteoporosis prevention and diagnosis for older people should improve to minimize the overall burden.
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- Juslin, Patrik N, et al.
(författare)
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Idiographic modelling of aesthetic judgments of music
- 2015
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Ingår i: Proceedings of the Ninth Triennial Conference of the European Society for the Cognitive Sciences of Music ESCOM, Manchester, 17-22 August, Manchester, UK.. - Manchester, UK : The European Society for the Cognitive Sciences of Music (ESCOM). ; , s. 492-493
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Konferensbidrag (refereegranskat)
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| 11. |
- Juslin, Patrik N, 1969-, et al.
(författare)
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Neural correlates of music and emotion
- 2019
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Ingår i: The Oxford handbook of music and the brain. - Oxford : Oxford University Press. - 9780198804123 ; , s. 285-332
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Bokkapitel (refereegranskat)abstract
- The chapter presents a theoretical and empirical review of studies of the neural correlates of emotional responses to music. First, we outline basic definitions and distinctions of the field of music and affect. Second, we describe an extensive theoretical framework that may serve to organize the domain. Third, we review 78 empirical studies (e.g., PET/fMRI, EEG, lesion studies) conducted between 1982 and 2016. We distinguish different empirical approaches to music and emotion in brain research and draw some general conclusions based on the results so far. Our review reveals that some brain areas have been more or less consistently reported across studies, with partly distinct patterns for perception and induction of emotions, but that we still do not know what role each brain region plays in the emotion process. This is largely due to a lack of studies that attempt to manipulate underlying psychological mechanisms in a systematic manner. We conclude the chapter by discussing the implications of the results and by making methodological recommendations for future research.
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- Juslin, Patrik N, 1969-, et al.
(författare)
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No accounting for taste? Idiographic models of aesthetic judgment in music
- 2016
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Ingår i: Psychology of Aesthetics, Creativity, and the Arts. - Washington : American Psychological Association (APA). - 1931-3896 .- 1931-390X. ; 10:2, s. 157-170
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Tidskriftsartikel (refereegranskat)abstract
- Music is commonly regarded as one of the fine arts, but aesthetic responses to music are still poorly understood. In this study, we investigated aesthetic judgments of music by using the tools of judgment analysis. The aim was to shed some light on the psychological process through which listeners use a set of subjective and differentially weighted criteria to assign aesthetic value to pieces of music. We used a stratified random sampling procedure to select 72 pieces of music from 12 genres. The pieces were divided across 2 groups of participants (N = 44), who rated each piece with regard to 7 aesthetic criteria (e.g., beauty, originality, expressivity) and overall aesthetic value. Both individual ("idiographic") and averaged ("nomothetic") multiple regression analyses were conducted on the listeners' judgments. The results revealed that (a) linear models provided a good fit to the listeners' aesthetic judgments (mean variance accounted for 76%), suggesting that the process is systematic and mainly additive; (b) some criteria (e.g., originality, skill) made a larger contribution to prediction than others overall; (c) there were wide individual differences between listeners concerning which criteria they used; (d) a nomothetic regression model did not adequately reflect the distinct judgment policies of individual listeners; (e) the trait openness to experience was not correlated with judgments of aesthetic value; and (f) listeners who scored high on the Beck Depression Inventory generally provided higher ratings of aesthetic value (r = .40) than listeners who scored low.
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