| 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. |
- Schmit, Stephanie L, et al.
(författare)
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Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
- 2019
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 111:2, s. 146-157
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Tidskriftsartikel (refereegranskat)abstract
- Background: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk.Methods: We conducted a GWAS in European descent CRC cases and control subjects using a discovery-replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants with a minor allele frequency of 1% or greater associated with risk of CRC using logistic regression followed by a fixed-effects inverse variance weighted meta-analysis. All novel independent variants reaching genome-wide statistical significance (two-sided P < 5 × 10-8) were tested for replication in separate European ancestry samples (12 952 case subjects/48 383 control subjects). Next, we examined the generalizability of discovered variants in East Asians, African Americans, and Hispanics (12 085 case subjects/22 083 control subjects). Finally, we examined the contributions of novel risk variants to familial relative risk and examined the prediction capabilities of a polygenic risk score. All statistical tests were two-sided.Results: The discovery GWAS identified 11 variants associated with CRC at P < 5 × 10-8, of which nine (at 4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13) independently replicated at a P value of less than .05. Multiethnic follow-up supported the generalizability of discovery findings. These results demonstrated a 14.7% increase in familial relative risk explained by common risk alleles from 10.3% (95% confidence interval [CI] = 7.9% to 13.7%; known variants) to 11.9% (95% CI = 9.2% to 15.5%; known and novel variants). A polygenic risk score identified 4.3% of the population at an odds ratio for developing CRC of at least 2.0.Conclusions: This study provides insight into the architecture of common genetic variation contributing to CRC etiology and improves risk prediction for individualized screening.
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| 4. |
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Highlights from the first year of Odin observations
- 2003
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 402, s. L39-L46
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Tidskriftsartikel (refereegranskat)abstract
- Key Odin operational and instrumental features and highlights from our sub-millimetre and millimetre wave observations of H2O, H218O, NH3, 15NH3 and O2 are presented, with some insights into accompanying Odin Letters in this A&A issue. We focus on new results where Odin's high angular resolution, high frequency resolution, large spectrometer bandwidths, high sensitivity or/and frequency tuning capability are crucial: H2O mapping of the Orion KL, W3, DR21, S140 regions, and four comets; H2O observations of Galactic Centre sources, of shock enhanced H2O towards the SNR IC443, and of the candidate infall source IRAS 16293-2422; H218O detections in Orion KL and in comet Ikeya-Zhang; sub-mm detections of NH3 in Orion KL (outflow, ambient cloud and bar) and ρ Oph, and very recently, of 15NH3 in~Orion KL. Simultaneous sensitive searches for the 119 GHz line of O2 have resulted in very low abundance limits, which are difficult to accomodate in chemical models. We also demonstrate, by means of a quantitative comparison of Orion KL H2O results, that the Odin and SWAS observational data sets are very consistently calibrated. Odin is a Swedish-led satellite project funded jointly by the Swedish National Space Board (SNSB), the Canadian Space Agency (CSA), the National Technology Agency of Finland (Tekes), and the Centre National d'études Spatiales (CNES, France). The Swedish Space Corporation (SSC) has been the prime industrial contractor, and is also responsible for the satellite operation from its Odin Mission Control Centre at SSC in Solna and its Odin Control Centre at ESRANGE near Kiruna in northern Sweden. See also the SNSB Odin web page: http://www.snsb.se/eng_odin_intro.shtml
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| 5. |
- Pagani, L., et al.
(författare)
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Low upper limits on the O2 abundance from the Odin satellite
- 2003
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 402, s. L77-L81
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Tidskriftsartikel (refereegranskat)abstract
- For the first time, a search has been conducted in our Galaxy for the 119 GHz transition connecting to the ground state of O2, using the Odin satellite. Equipped with a sensitive 3 mm receiver (Tsys(SSB) = 600 K), Odin has reached unprecedented upper limits on the abundance of O2, especially in cold dark clouds where the excited state levels involved in the 487 GHz transition are not expected to be significantly populated. Here we report upper limits for a dozen sources. In cold dark clouds we improve upon the published SWAS upper limits by more than an order of magnitude, reaching N(O2)/N(H2) <= 10-7 in half of the sources. While standard chemical models are definitively ruled out by these new limits, our results are compatible with several recent studies that derive lower O2 abundances. Goldsmith et al. (\cite{SWAS2002}) recently reported a SWAS tentative detection of the 487 GHz transition of O2 in an outflow wing towards rho Oph A in a combination of 7 beams covering approximately 10arcmin x 14arcmin . In a brief (1.3 hour integration time) and partial covering of the SWAS region (~65% if we exclude their central position), we did not detect the corresponding 119 GHz line. Our 3 sigma upper limit on the O2 column density is 7.3x 1015 cm-2. We presently cannot exclude the possibility that the SWAS signal lies mostly outside of the 9\arcmin Odin beam and has escaped our sensitive detector. Based on observations with Odin, a Swedish-led satellite project funded jointly by the Swedish National Space Board (SNSB), the Canadian Space Agency (CSA), the National Technology Agency of Finland (Tekes) and Centre National d'Études Spatiales (CNES). The Swedish Space Corporation was the industrial prime contractor and is operating Odin.
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| 6. |
- Suutarinen, A., et al.
(författare)
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CH abundance gradient in TMC-1
- 2011
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 531, s. A121-
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Tidskriftsartikel (refereegranskat)abstract
- Aims. The aim of this study is to examine if the well-known chemical gradient in TMC-1 is reflected in the amount of rudimentaryforms of carbon available in the gas-phase. As a tracer we use the CH radical which is supposed to be well correlated with carbonatoms and simple hydrocarbon ions.Methods. We observed the 9-cm Λ-doubling lines of CH along the dense filament of TMC-1. The CH column densities were comparedwith the total H2 column densities derived using the 2MASS NIR data and previously published SCUBA maps and with OH columndensities derived using previous observations with Effelsberg. We also modelled the chemical evolution of TMC-1 adopting physicalconditions typical of dark clouds using the UMIST Database for Astrochemistry gas-phase reaction network to aid the interpretationof the observed OH/CH abundance ratios.Results. The CH column density has a clear peak in the vicinity of the cyanopolyyne maximum of TMC-1. The fractional CHabundance relative to H2 increases steadily from the northwestern end of the filament where it lies around 1.0 × 10−8, to the southeastwhere it reaches a value of 2.0 × 10−8. The OH and CH column densities are well correlated, and we obtained OH/CH abundanceratios of ∼16–20. These values are clearly larger than what has been measured recently in diffuse interstellar gas and is likely to berelated to C to CO conversion at higher densities. The good correlation between CH and OH can be explained by similar productionand destruction pathways. We suggest that the observed CH and OH abundance gradients are mainly due to enhanced abundances ina low-density envelope which becomes more prominent in the southeastern part and seems to continue beyond the dense filament.Conclusions. An extensive envelope probably signifies an early stage of dynamical evolution, and conforms with the detection of alarge CH abundance in the southeastern part of the cloud. The implied presence of other simple forms of carbon in the gas phase provides a natural explanation for the observation of "early-type" molecules in this region.
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| 7. |
- Harju-Luukkainen, H., et al.
(författare)
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Family related variables effect on later educational outcome: a further geospatial analysis on TIMSS 2015 Finland
- 2020
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Ingår i: Large-Scale Assessments in Education. - : Springer Science and Business Media LLC. - 2196-0739. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Family-related factors, like parent's educational level, their values and expectations have a significant impact on child's early skills and later educational outcomes. Further, parents provide their child, alongside with other learning environments, a broad mathematical and early literacy input. This study investigates the relationship between family-related socio-economic and other factors like, parental education, amount of books at home, parental attitudes towards mathematics and science, parental perception of child's early skills and student's later academic achievement. This is studied in the light of the Finnish data collected for Trends in International Mathematics and Science Study (TIMSS) 2015. The results are presented with the help of a geospatial method called Kriging that reveals regional variance. The results indicate that family-related background variables have different effects on child's later achievement in mathematics across Finland. The results suggest, that some areas in Finland are better in 'levelling the playing field' for children and minimising the effect of family related variables on educational outcomes than others.
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| 8. |
- Jensen, L. L., et al.
(författare)
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Paediatric ventilation treatment of acute lung injury in Nordic intensive care units
- 2015
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Ingår i: Acta Anaesthesiologica Scandinavica. - : Wiley. - 0001-5172 .- 1399-6576. ; 59:5, s. 568-575
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundTreatment of acute respiratory distress syndrome (ARDS) in children is largely based on extrapolated knowledge obtained from adults and which varies between different hospitals. This study explores ventilation treatment strategies for children with ARDS in the Nordic countries, and compares these with international practice. MethodsIn October 2012, a questionnaire covering ventilation treatment strategies for children aged 1 month to 6 years of age with ARDS was sent to 21 large Nordic intensive care units that treat children with ARDS. Pre-terms and children with congenital conditions were excluded. ResultsEighteen of the 21 (86%) targeted intensive care units responded to the questionnaire. Fiftypercent of these facilities were paediatric intensive care units. Written guidelines existed in 44% of the units. Fiftypercent of the units frequently used cuffed endotracheal tubes. Ventilation was achieved by pressure control for 89% vs. volume control for 11% of units. Bronchodilators were used by all units, whereas steroids usage was 83% and surfactant 39%. Inhaled nitric oxide and high frequency oscillation were available in 94% of the units. Neurally adjusted ventilator assist was used by 44% of the units. Extracorporeal membrane oxygenation could be started in 44% of the units. ConclusionVentilation treatment strategies for paediatric ARDS in the Nordic countries are relatively uniform and largely in accordance with international practice. The use of steroids and surfactant is more frequent than shown in other studies.
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| 9. |
- Larsson, B., et al.
(författare)
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First NH3 detection of the Orion Bar
- 2003
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 402, s. L69-L72
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Tidskriftsartikel (refereegranskat)abstract
- Odin has successfully observed three regions in the Orion A cloud, i.e. Ori KL, Ori S and the Orion Bar, in the 572.5 GHz rotational ground state line of ammonia, ortho-NH3 (J,K) = (1,0) -> (0,0), and the result for the Orion Bar represents the first detection in an ammonia line. Several velocity components are present in the data. Specifically, the observed line profile from the Orion Bar can be decomposed into two components, which are in agreement with observations in high-J CO lines by Wilson et al. (\cite{wilson01}). Using the source model for the Orion Bar by these authors, our Odin observation implies a total ammonia abundance of NH3/H2 = 5x 10-9. Based on observations with Odin, a Swedish-led satellite project funded jointly by the Swedish National Space Board (SNSB), the Canadian Space Agency (CSA), the National Technology Agency of Finland (Tekes) and Centre National d'Études Spatiales (CNES). The Swedish Space Corporation has been the industrial prime contractor.
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| 10. |
- Liseau, R., et al.
(författare)
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First detection of NH3 (10 -> 00) from a low mass cloud core. On the low ammonia abundance of the rho Oph A core
- 2003
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 402, s. L73-L76
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Tidskriftsartikel (refereegranskat)abstract
- Odin has successfully observed the molecular core rho Oph A in the 572.5 GHz rotational ground state line of ammonia, NH3 (JK = 10 -> 00). The interpretation of this result makes use of complementary molecular line data obtained from the ground (C17O and CH3OH) as part of the Odin preparatory work. Comparison of these observations with theoretical model calculations of line excitation and transfer yields a quite ordinary abundance of methanol, X(CH3OH)= 3 x 10-9. Unless NH3 is not entirely segregated from C17O and CH3OH, ammonia is found to be significantly underabundant with respect to typical dense core values, viz. X(NH3) = 8 x 10-10. Based on observations with Odin, a Swedish-led satellite project funded jointly by the Swedish National Space Board (SNSB), the Canadian Space Agency (CSA), the National Technology Agency of Finland (Tekes) and Centre National d'Études Spatiales (CNES). The Swedish Space Corporation has been the industrial prime contractor. and based on observations collected with the Swedish ESO Submillimeter Telescope, SEST, in La Silla, Chile.
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