| 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. |
- Barbron, Marie-Claude, et al.
(författare)
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Meta and pooled analysis of European coeliac disease data
- 2003
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 11:11, s. 828-834
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Tidskriftsartikel (refereegranskat)abstract
- Four full genome scans have been carried out by the partners of the European cluster on coeliac disease as well as follow-up studies of candidate regions. No region outside HLA showed significant linkage to the disease in any single study. We first applied a meta-analysis based on a modification of Genome Screen Meta-Analysis to take into account the different linkage statistics, the arbitrariness of bin cutoff points, as well as the sample size of each study. We then performed a pooled linkage analysis of all families and raw genotypes. Besides the HLA region, already known to harbour a risk factor for coeliac disease, both approaches leave very little doubt on the presence of a genetic risk factor in the 5q31-33 region. This region was suggested by several individual studies, but did not reach statistical values high enough to be conclusive when data sets were analysed separately.
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| 3. |
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| 4. |
- Chetty, Sylvie K., et al.
(författare)
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Contextualising case studies in entrepreneurship : A tandem approach to conducting a longitudinal cross-country case study
- 2014
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Ingår i: International Small Business Journal. - : SAGE Publications. - 0266-2426 .- 1741-2870. ; 32:7, s. 818-829
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Tidskriftsartikel (refereegranskat)abstract
- Using predictive and effectuation logics as a framework, this research note explains how case study research was conducted to demonstrate rigour and relevance. The study involves a longitudinal cross-country case study on small and medium-sized firm growth and networks undertaken by research teams in three countries (Finland, Denmark and New Zealand) involving 33 firms. This research note outlines the implications of this research and provides valuable guidance and reflections upon opportunities for future research regarding the conduct of contextual studies in entrepreneurship without compromising validity and reliability.
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| 5. |
- 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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| 6. |
- Joda, Hamdi, et al.
(författare)
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Low-medium resolution HLA-DQ2/DQ8 typing for coeliac disease predisposition analysis by colorimetric assay
- 2012
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Ingår i: Analytical and Bioanalytical Chemistry. - : Springer Berlin/Heidelberg. - 1618-2642 .- 1618-2650. ; 403:3, s. 807-819
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Tidskriftsartikel (refereegranskat)abstract
- Coeliac disease is an inflammation of the small intestine, occurring in genetically susceptible individuals triggered by the ingestion of gluten. Human Leukocyte Antigens (HLA) DQ2 and DQ8 gene have been identified as key genetic factors in coeliac disease as they are presented in almost 100 % of the patients. These genes are encoded by the combination of certain alleles in the DQA and DQB region of chromosome 6. Specifically, DQA1*05:01 and DQB1*02:01 alleles for serologically defined leukocyte antigen DQ2 cis, DQA1*05:05 and DQB1*02:02 for DQ2 trans and DQA1*03:01 and DQB1*03:02 alleles for the DQ8. Specific identification of these alleles is a challenge due to the high number of alleles that have been identified so far: 46 in the DQA region and 160 in the DQB region (as of IMGT/HLA Database 10/2011 release). In the reported work, the development of a multiplex colorimetric assay for the low to medium HLA typing of the DQ2 and DQ8 genes is presented. The optimisation of probe design and assay conditions, performed by both surface plasmon resonance and enzyme-linked oligonucleotide assay, are reported. Finally, the performances of the developed typing platform were validated by the analysis of real patient samples and HLA typing, compared with those obtained using hospital based typing technology and an excellent correlation obtained.
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| 7. |
- Joda, Hamdi, et al.
(författare)
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Medium-high resolution electrochemical genotyping of HLA-DQ2/DQ8 for detection of predisposition to coeliac disease
- 2014
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Ingår i: Analytical and Bioanalytical Chemistry. - : Springer Berlin/Heidelberg. - 1618-2642 .- 1618-2650. ; 406:12, s. 2757-2769
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Tidskriftsartikel (refereegranskat)abstract
- Coeliac disease is a small intestinal disorder, induced by ingestion of gluten in genetically predisposed individuals. Coeliac disease has been strongly linked to human leukocyte antigens (HLA) located on chromosome 6, with almost 100 % of coeliac disease sufferers carrying either a HLA-DQ2 or HLA-DQ8 heterodimer, with the majority carrying HLA-DQ2 encoded by the DQA1*05:01/05:05, DQB1*02:01/02:02 alleles, whereas the remaining carry the HLA-DQ8 encoded by the DQA1*03:01, DQB1*03:02 alleles. In this work, we present the development of a multiplex electrochemical genosensor array of 36 electrodes, housed within a dedicated microfluidic platform and using a total of 10 sequence-specific probes for rapid medium-high resolution HLA-DQ2/DQ8 genotyping. An evaluation of the selectivity of the designed probes was carried out with the target sequences and 44 potentially interfering alleles, including single base mismatch differentiations; good selectivity was demonstrated. The performance of the electrochemical genosensor array was validated, analyzing real human samples for the presence of HLA-DQ2/DQ8 alleles, and compared with those obtained using laboratory-based HLA typing, and an excellent correlation was obtained.
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| 8. |
- 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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| 9. |
- Kohtamäki, Marko, et al.
(författare)
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Co-creating value from knowledge-intensive business services in manufacturing firms : The moderating role of relationship learning in supplier–customer interactions
- 2016
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Ingår i: Journal of Business Research. - : Elsevier BV. - 0148-2963 .- 1873-7978. ; 69:7, s. 2498-2506
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Tidskriftsartikel (refereegranskat)abstract
- This study seeks evidence for a positive moderating role of relationship learning in the relation between manufacturing firms' knowledge-intensive business services (KIBS), i.e., product-related services for developing customized solutions, and firms' customer-specific sales performance. Our findings from a survey of 91 supplier–customer relationships indicate that KIBS offerings do not generate performance per se; instead, supplier–customer relationships must be characterized by relationship learning to co-create value from the supplier's KIBS offerings. Our findings extend the literature on industrial service businesses by shedding a more nuanced light on the core activities that enable value co-creation and value appropriation in the KIBS context
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| 10. |
- Kohtamäki, Marko, et al.
(författare)
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Making a profit with R&D services : The critical role of relational capital
- 2013
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Ingår i: Industrial Marketing Management. - : Elsevier BV. - 0019-8501 .- 1873-2062. ; 42:1, s. 71-81
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Tidskriftsartikel (refereegranskat)abstract
- Services are expected to become the key source of profit and competitive advantage for industrial firms in the transition from product business to customized and integrated solutions. At the core of this transformation are complex and knowledge-intensive R&D services that enable the customization of solutions, and particularly the relational capabilities needed for R&D service interactions. However, little research has been conducted on the profitability of suppliers' R&D services and the factors that facilitate profit generation from such complex and knowledge-intensive services. Our primary aim is to identify the factors that influence the relationship between R&D services and suppliers' profit performance in customer relationships. Using data from 91 supplier-customer relationships, the study demonstrates how the relational form of social capital (relational capital) facilitates the profit impact of R&D services in the supplier-customer relationship. The results contribute to the study of industrial servitization, R&D service interactions, and the factors that facilitate financial value creation via complex and knowledge-intensive services by industrial suppliers. The results enhance the study of service networks, R&D collaboration, alliance capabilities, industrial marketing, and inter-organizational networks.
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