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- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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- Sörensen, Johanna Lykke, et al.
(författare)
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Decision Support Indicators (DSIs) and their role in hydrological planning
- 2024
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Ingår i: Environmental Science and Policy. - 1462-9011. ; 157
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Tidskriftsartikel (refereegranskat)abstract
- Decision Support Indicators (DSIs) are metrics designed to inform local and regional stakeholders about the characteristics of a predicted (or ongoing) event to facilitate decision-making. In this paper, the DSI concept was developed to clarify the different aims of different kinds of indicators by naming them, and a framework was developed to describe and support the usage of such DSIs. The framework includes three kinds of DSI: hydroclimatic DSIs which are easy to calculate but hard to understand by non-experts; impact-based DSIs which are often difficult to calculate but easy to understand by non-experts; and event-based DSIs, which compare a current or projected state to a locally well-known historical event, where hydroclimatic and impact-based DSIs are currently mainly used. Tables and figures were developed to support the DSI development in collaboration with stakeholders. To develop and test the framework, seven case studies, representing different hydrological pressures on three continents (South America, Asia, and Europe), were carried out. The case studies span several temporal and spatial scales (hours-decades; 70–6,000 km2) as well as hydrological pressures (pluvial and riverine floods, drought, and water scarcity), representing different climate zones. Based on stakeholder workshops, DSIs were developed for these cases, which are used as examples of the conceptual framework. The adaptability of the DSI framework to this wide range of cases shows that the framework and related concepts are useful in many contexts.
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