| 1. |
- 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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| 2. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
- Kangasniemi, Oskari, et al.
(författare)
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Volatility of a Ship’s Emissions in the Baltic Sea Using Modelling and Measurements in Real-World Conditions
- 2023
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Ingår i: Atmosphere. - 2073-4433. ; 14:7
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Tidskriftsartikel (refereegranskat)abstract
- Shipping emissions are a major source of particulate matter in the atmosphere. The volatility of gaseous and particulate phase ship emissions are poorly known despite their potentially significant effect on the evolution of the emissions and their secondary organic aerosol (SOA) formation potential. An approach combining a genetic optimisation algorithm with volatility modelling was used on volatility measurement data to study the volatility distribution of a ship engine’s emissions in real-world conditions. The fuels used were marine gas oil (MGO) and methanol. The engine was operated with 50% and 70% loads with and without active NOx after-treatment with selective catalytic reduction (SCR). The volatility distributions were extended to higher volatilities by combining the speciation information of the gas phase volatile organic compounds with particle phase volatility distributions and organic carbon measurements. These measurements also provided the emission factors of the gas and particle phase emissions. The results for the particle phase volatility matched well with the existing results placing most of the volatile organic mass in the intermediate volatile organic compounds (IVOC). The IVOCs also dominated the speciated gas phase. Partitioning of the emissions in the gas and particle phases was affected significantly by the total organic mass concentration, underlining the importance of the effect of the dilution on the phase of the emissions.
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