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- Sliz, E., et al.
(author)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Journal article (peer-reviewed)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.
(author)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Journal article (peer-reviewed)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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| 5. |
- Suvitaival, T., et al.
(author)
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Serum metabolite profile associates with the development of metabolic co-morbidities in first-episode psychosis
- 2016
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In: Translational Psychiatry. - London. United Kingdom : Nature Publishing Group. - 2158-3188. ; 6:11
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Journal article (peer-reviewed)abstract
- Psychotic patients are at high risk for developing obesity, metabolic syndrome and type 2 diabetes. These metabolic co-morbidities are hypothesized to be related to both treatment side effects as well as to metabolic changes occurring during the psychosis. Earlier metabolomics studies have shown that blood metabolite levels are predictive of insulin resistance and type 2 diabetes in the general population as well as sensitive to the effects of antipsychotics. In this study, we aimed to identify the metabolite profiles predicting future weight gain and other metabolic abnormalities in psychotic patients. We applied comprehensive metabolomics to investigate serum metabolite profiles in a prospective study setting in 36 first-episode psychosis patients during the first year of the antipsychotic treatment and 19 controls. While corroborating several earlier findings when comparing cases and controls and the effects of the antipsychotic medication, we also found that prospective weight gain in psychotic patients was associated with increased levels of triacylglycerols with low carbon number and double-bond count at baseline, that is, lipids known to be associated with increased liver fat. Our study suggests that metabolite profiles may be used to identify the psychotic patients most vulnerable to develop metabolic co-morbidities, and may point to a pharmacological approach to counteract the antipsychotic-induced weight gain.
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| 13. |
- Hackman, T., et al.
(author)
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Doppler images of II Pegasi for 2004-2010
- 2012
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 538, s. A126-
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Journal article (peer-reviewed)abstract
- Aims. We study the spot activity of II Peg during the years 2004-2010 to determine long- and short-term changes in the magnetic activity. In a previous study, we detected a persistent active longitude, as well as major changes in the spot configuration occurring on a timescale of shorter than a year. The main objective of this study is to determine whether the same phenomena persist in the star during these six years of spectroscopic monitoring. Methods. The observations were collected with the high-resolution SOFIN spectrograph at the Nordic Optical Telescope. The temperature maps were calculated using a Doppler imaging code based on Tikhonov regularization. Results. We present 12 new temperature maps that show spots distributed mainly over high and intermediate latitudes. In each image, 1-3 main active regions can be identified. The activity level of the star is clearly lower than during our previous study for the years 1994-2002. In contrast to the previous observations, we detect no clear drift of the active regions with respect to the rotation of the star. Conclusions. Having shown a systematic longitudinal drift of the spot-generating mechanism during 1994-2002, the star has clearly switched to a low-activity state for 2004-2010, during which the spot locations appear more random over phase space. It could be that the star is near to a minimum of its activity cycle.
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| 14. |
- Hackman, T., et al.
(author)
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Spot activity of II Peg
- 2011
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In: Astronomical Notes - Astronomische Nachrichten. - : Wiley. - 0004-6337 .- 1521-3994. ; 332:9-10, s. 859-865
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Journal article (peer-reviewed)abstract
- We have studied the long-term spot activity of the RS CVn star II Peg by means of Doppler imaging based on spectroscopy and time series analysis of photometry. We present 28 Doppler imaging temperature maps spanning the years 1994-2010, of which 14 were calculated for the present study. The longitudinal spot distribution, derived from the surface temperature maps, is compared with epochs of the light curve minima, derived from photometric observations. We detect a longitudinal drift in the major spot structure during 1995-2003. After this there is a clear decrease in the activity level and no clear drift can be seen. We conclude that the variations could be caused by a cyclic behaviour of the underlying magnetic dynamo.
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| 16. |
- Kochukhov, Oleg, et al.
(author)
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Magnetic field topology of the RS CVn star II Pegasi
- 2013
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 550, s. A84-
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Journal article (peer-reviewed)abstract
- Context. The dynamo processes in cool active stars generate complex magnetic fields responsible for prominent surface stellar activity and variability at different time scales. For a small number of cool stars magnetic field topologies were reconstructed from the time series of spectropolarimetric observations using the Zeeman Doppler imaging (ZDI) method, often yielding surprising and controversial results. Aims. In this study we follow a long-term evolution of the magnetic field topology of the RS CVn binary star II Peg using a more self-consistent and physically more meaningful modelling approach compared to previous ZDI studies. Methods. We collected high-resolution circular polarisation observations of II Peg using the SOFIN spectropolarimeter at the Nordic Optical Telescope. These data cover 12 epochs spread over 7 years, comprising one of the most comprehensive spectropolarimetric data sets acquired for a cool active star. A multi-line diagnostic technique in combination with a new ZDI code is applied to interpret these observations. Results. We have succeeded in detecting clear magnetic field signatures in average Stokes V profiles for all 12 data sets. These profiles typically have complex shapes and amplitudes of similar to 10(-3) of the unpolarised continuum, corresponding to mean longitudinal fields of 50-100 G. Magnetic inversions using these data reveals evolving magnetic fields with typical local strengths of 0.5-1.0 kG and complex topologies. Despite using a self-consistent magnetic and temperature mapping technique, we do not find a clear correlation between magnetic and temperature features in the ZDI maps. Neither do we confirm the presence of persistent azimuthal field rings found in other RS CVn stars. Reconstruction of the magnetic field topology of II Peg reveals significant evolution of both the surface magnetic field structure and the extended magnetospheric field geometry on the time scale covered by our observations. From 2004 to 2010 the total field energy drastically declined and the field became less axisymmetric. This also coincided with the transition from predominantly poloidal to mainly toroidal field topology. Conclusions. A qualitative comparison of the ZDI maps of II Peg with the prediction of dynamo theory suggests that the magnetic field in this star is produced mainly by the turbulent alpha(2) dynamo rather than the solar alpha Omega dynamo. Our results do not show a clear active longitude system, nor is there evidence of the presence of an azimuthal dynamo wave.
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| 17. |
- Lindborg, M., et al.
(author)
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Doppler images of DI Piscium during 2004-2006
- 2014
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 562, s. A139-
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Journal article (peer-reviewed)abstract
- Aims. DI Psc (HD 217352) is a Li-rich, rapidly rotating single K giant. We set out to study the spot configuration and activity level by calculating surface temperature maps of the star. Methods. We apply the Doppler imaging method on high-resolution optical spectroscopy obtained during 2004-2006. Results. In July-August 2004, no clear spot structures were visible, but the spot coverage increased in July 2005, and cool spots emerged, especially at intermediate latitudes. Later on in September 2006, the spot coverage increased and cool spots were visible on both sides of the equator. However, the map of 2006 suffers from bad phase coverage, meaning it is not possible to draw definite conclusions on the spot locations during that season. Conclusions. Compared with earlier Doppler maps of DI Psc and temperature maps obtained for other late-type stars with similar rotation rates, DI Psc seems to be in a low activity state especially during the observing season of July-August 2004. During the 2005 and 2006 observing seasons, the spot activity seen in the spectral line profiles and inferred from Doppler images increases, and the temperature contrast in our last map is more comparable to what was reported in an earlier study. Therefore, it can be concluded that the spot activity level of the star is variable over time. However, the present and previous Doppler images form too short a time series to draw conclusions about a possible activity cycle in DI Psc.
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