| 1. |
- Widén, Elisabeth, et al.
(författare)
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How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior : an Observational Follow-up Study
- 2022
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Ingår i: Circulation: Genomic and Precision Medicine. - 2574-8300. ; 15:2, s. 003459-003459
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Tidskriftsartikel (refereegranskat)abstract
- Background: Prediction tools that combine polygenic risk scores with clinical factors provide a new opportunity for improved prediction and prevention of atherosclerotic cardiovascular disease, but the clinical utility of polygenic risk score has remained unclear. Methods: We collected a prospective cohort of 7342 individuals (64% women, mean age 56 years) and estimated their 10-year risk for atherosclerotic cardiovascular disease both by a traditional risk score and a composite score combining the effect of a polygenic risk score and clinical risk factors. We then tested how returning the personal risk information with an interactive web-tool impacted on the participants' health behavior. Results: When reassessed after 1.5 years by a clinical visit and questionnaires, 20.8% of individuals at high (>10%) 10-year atherosclerotic cardiovascular disease risk had seen a doctor, 12.4% reported weight loss, 14.2% of smokers had quit smoking, and 15.4% had signed up for health coaching online. Altogether, 42.6% of persons at high risk had made one or more health behavioral changes versus 33.5% of persons at low/average risk such that higher baseline risk predicted a favorable change (OR [CI], 1.53 [1.37-1.72] for persons at high risk versus the rest, P<0.001), with both high clinical (P<0.001) and genomic risk (OR [CI], 1.10 [1.03-1.17], P=0.003) contributing independently. Conclusions: Web-based communication of personal atherosclerotic cardiovascular disease risk-data including polygenic risk to middle-aged persons motivates positive changes in health behavior and the propensity to seek care. It supports integration of genomic information into clinical risk calculators as a feasible approach to enhance disease prevention.
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| 2. |
- Hyvärinen, Kati, et al.
(författare)
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A machine-learning method for biobank-scale genetic prediction of blood group antigens
- 2024
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Ingår i: PLoS Computational Biology. - 1553-734X. ; 20:3
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Tidskriftsartikel (refereegranskat)abstract
- A key element for successful blood transfusion is compatibility of the patient and donor red blood cell (RBC) antigens. Precise antigen matching reduces the risk for immunization and other adverse transfusion outcomes. RBC antigens are encoded by specific genes, which allows developing computational methods for determining antigens from genomic data. We describe here a classification method for determining RBC antigens from genotyping array data. Random forest models for 39 RBC antigens in 14 blood group systems and for human platelet antigen (HPA)-1 were trained and tested using genotype and RBC antigen and HPA-1 typing data available for 1,192 blood donors in the Finnish Blood Service Biobank. The algorithm and models were further evaluated using a validation cohort of 111,667 Danish blood donors. In the Finnish test data set, the median (interquartile range [IQR]) balanced accuracy for 39 models was 99.9 (98.9-100)%. We were able to replicate 34 out of 39 Finnish models in the Danish cohort and the median (IQR) balanced accuracy for classifications was 97.1 (90.1-99.4)%. When applying models trained with the Danish cohort, the median (IQR) balanced accuracy for the 40 Danish models in the Danish test data set was 99.3 (95.1-99.8)%. The RBC antigen and HPA-1 prediction models demonstrated high overall accuracies suitable for probabilistic determination of blood groups and HPA-1 at biobank- scale. Furthermore, population-specific training cohort increased the accuracies of the models. This stand-alone and freely available method is applicable for research and screening for antigen-negative blood donors.
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| 3. |
- Kivimäki, Mika, et al.
(författare)
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Climate Change, Summer Temperature, and Heat-Related Mortality in Finland : Multicohort Study with Projections for a Sustainable vs. Fossil-Fueled Future to 2050
- 2023
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Ingår i: Journal of Environmental Health Perspectives. - : EHP Publishing. - 0091-6765 .- 1552-9924. ; 131:12, s. 1270201-1-1270201-16
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Climate change scenarios illustrate various pathways in terms of global warming ranging from "sustainable development" (Shared Socioeconomic Pathway SSP1-1.9), the best-case scenario, to 'fossil-fueled development' (SSP5-8.5), the worst-case scenario. OBJECTIVES: We examined the extent to which increase in daily average urban summer temperature is associated with future cause-specific mortality and projected heat-related mortality burden for the current warming trend and these two scenarios. METHODS: We did an observational cohort study of 363,754 participants living in six cities in Finland. Using residential addresses, participants were linked to daily temperature records and electronic death records from national registries during summers (1 May to 30 September) 2000 to 2018. For each day of observation, heat index (average daily air temperature weighted by humidity) for the preceding 7 d was calculated for participants' residential area using a geographic grid at a spatial resolution of formula presented . We examined associations of the summer heat index with risk of death by cause for all participants adjusting for a wide range of individual-level covariates and in subsidiary analyses using case-crossover design, computed the related period population attributable fraction (PAF), and projected change in PAF from summers 2000-2018 compared with those in 2030-2050. RESULTS: During a cohort total exposure period of 582,111,979 summer days (3,880,746 person-summers), we recorded 4,094 deaths, including 949 from cardiovascular disease. The multivariable-adjusted rate ratio (RR) for high (formula presented ) vs. reference (formula presented ) heat index was 1.70 (95% CI: 1.28, 2.27) for cardiovascular mortality, but it did not reach statistical significance for noncardiovascular deaths, formula presented (95% CI: 0.96, 1.36), a finding replicated in case-crossover analysis. According to projections for 2030-2050, PAF of summertime cardiovascular mortality attributable to high heat will be 4.4% (1.8%-7.3%) under the sustainable development scenario, but 7.6% (3.2%-12.3%) under the fossil-fueled development scenario. In the six cities, the estimated annual number of summertime heat-related cardiovascular deaths under the two scenarios will be 174 and 298 for a total population of 1,759,468 people. DISCUSSION: The increase in average urban summer temperature will raise heat-related cardiovascular mortality burden. The estimated magnitude of this burden is formula presented times greater if future climate change is driven by fossil fuels rather than sustainable development. https://doi.org/10.1289/EHP12080.
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| 4. |
- Partanen, Jukka, et al.
(författare)
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Supply chain ambidexterity and manufacturing SME performance : The moderating roles of network capability and strategic information flow
- 2020
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Ingår i: International Journal of Production Economics. - : Elsevier. - 0925-5273 .- 1873-7579. ; 221
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Tidskriftsartikel (refereegranskat)abstract
- Organizational ambidexterity is the simultaneous act of exploiting existing competences and exploring new opportunities. Prior studies suggest that resource-constrained SMEs cannot successfully pursue simultaneous interorganizational ambidexterity but need to rely on functionally separated alliances (i.e., alliances based on their value chain function such as explorative R&D alliances or exploitative commercialization alliances) to achieve ambidexterity. Yet, others propose that ambidexterity can occur within the functional domain of a supply chain. We investigate the relationships among supply chain ambidexterity, network capabilities, strategic information flow, and firm performance. In a sample of manufacturing SMEs in Sweden, we hypothesize the direct association between supply chain ambidexterity and performance and the moderating effect of network capabilities and strategic information flow. By testing our hypotheses in a sample of 200 manufacturing SMEs, we show that supply chain ambidexterity decreases firm performance; however, network capabilities and strategic information flow with their supply chain partners help mitigate this negative relationship. The present study advances understanding of ambidextrous interorganizational collaboration and alliances in general and supply chain ambidexterity of manufacturing SMEs in particular. In contexts where supply chain ambidexterity is negatively associated with performance, network capabilities and strategic information flow may be necessary to lower the negative effects.
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| 5. |
- Zhou, Wei, et al.
(författare)
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Global Biobank Meta-analysis Initiative : Powering genetic discovery across human disease
- 2022
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Ingår i: Cell Genomics. - : Elsevier. - 2666-979X. ; 2:10
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Tidskriftsartikel (refereegranskat)abstract
- Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)-a collaborative network of 23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints. This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity in case definitions, recruitment strategies, and baseline characteristics. This collaborative effort improves GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling the nomination of disease genes and drug candidates by incorporating gene and protein expression data and providing insight into the underlying biology of human diseases and traits.
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