| 1. |
- Sliz, E., et al.
(författare)
-
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
-
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.
|
|
| 2. |
- Tabassum, R, et al.
(författare)
-
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
-
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.
|
|
| 3. |
|
|
| 4. |
- Kurki, MI, et al.
(författare)
-
FinnGen provides genetic insights from a well-phenotyped isolated population
- 2023
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 613:7944, s. 508-
-
Tidskriftsartikel (refereegranskat)abstract
- Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10–11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.
|
|
| 5. |
- Lewis, M. C., et al.
(författare)
-
Decay of a 19(-) isomeric state in Lu-156
- 2018
-
Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 98:2
-
Tidskriftsartikel (refereegranskat)abstract
- A multiparticle spin-trap isomeric state having a half-life of 179(4) ns and lying 2601 keV above the yrast 10(+) state in Lu-156 has been discovered. The Lu-156 nuclei were produced by bombarding isotopically enriched Cd-106 targets with beams of Ni-58 ions, separated in flight using the gas-filled separator RITU and their decays were measured using the GREAT spectrometer. Analysis of the main decay path that populates yrast states observed previously suggests a spin-parity assignment of 19(-) for the isomeric state, which is consistent with isomeric states identified in the N = 85 isotones. Comparison with other decay paths in Lu-156 indicates that the [pi h(11/)(2)(-1) circle times nu h(9/2)]10(+) state at the bottom of the yrast sequence is likely to be the a-decaying isomeric state, with the [pi h(11/)(2)(-1) circle times nu f(7/2)]9(+) state lying 62 keV above it. The relative ordering of the lowest-lying 9(+) and 10(+) states is inverted in Lu-156 compared with its odd-odd isotones.
|
|
| 6. |
- Lv, B. F., et al.
(författare)
-
Chirality of Nd-135 reexamined : Evidence for multiple chiral doublet bands
- 2019
-
Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 100:2
-
Tidskriftsartikel (refereegranskat)abstract
- One new pair of positive-parity chiral doublet bands have been identified in the odd-A nucleus Nd-135 which together with the previously reported negative-parity chiral doublet bands constitute a third case of multiple chiral doublet (M chi D) bands in the A approximate to 130 mass region. The properties of the M chi D bands are well reproduced by constrained covariant density functional theory and particle rotor model calculations. The newly observed M chi D bands in Nd-135 represents an important milestone in supporting the existence of M chi D in nuclei.
|
|
| 7. |
- Lv, B. F., et al.
(författare)
-
Evidence against the wobbling nature of low-spin bands in 135Pr
- 2022
-
Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 824
-
Tidskriftsartikel (refereegranskat)abstract
- The electromagnetic character of the ΔI=1 transitions connecting the 1- to 0-phonon and the 2- to 1-phonon wobbling bands should be dominated by an E2 component, due to the collective motion of the entire nuclear charge. In the present work it is shown, based on combined angular correlation and linear polarization measurements, that the mixing ratios of all analyzed connecting transitions between low-lying bands in 135Pr interpreted as 0-, 1-, and 2-phonon wobbling bands, have absolute values smaller than one. This indicates predominant M1 magnetic character, which is incompatible with the proposed wobbling nature. All experimental observables are instead in good agreement with quasiparticle-plus-triaxial-rotor model calculations, which describe the bands as resulting from a rapid re-alignment of the total angular momentum from the short to the intermediate nuclear axis.
|
|
| 8. |
- Lv, B. F., et al.
(författare)
-
Tilted precession bands in Nd 135
- 2021
-
Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 103:4
-
Tidskriftsartikel (refereegranskat)abstract
- Two new excited bands built on the πh11/2 configuration have been identified in Nd135 in addition to the known πh11/2 band. The energy spectra of the excited bands and the available electromagnetic transition probabilities are in good agreement with theoretical results obtained using quasiparticle-plus-triaxial-rotor model calculations. The properties of the bands identify them as tilted precession bands instead of wobbling bands. Our results give a new insight into the interpretation of the low-lying bands in odd-A mass nuclei, and can stimulate future studies to address the nuclear triaxiality.
|
|
| 9. |
- Parr, E., et al.
(författare)
-
Fine structure in the alpha decay of high-spin isomers in Lu-155 and Hf-156
- 2018
-
Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 98:2
-
Tidskriftsartikel (refereegranskat)abstract
- Fine structure in the a decay of high-spin isomers in Lu-155( 25/2(-)) and Hf-156(8(+))has been studied for the first time using alpha gamma- coincidence analysis. Three new a decays from Lu-155(25/2(-)) and two from Hf-156(8(+)) have been identified, populating seniority s > 1 states in the N = 82 nuclei Tm-151 and Yb-152, respectively. The reduced hindrance factors of the a decays support the previous configuration assignments of the populated states. This is the first observation of states with excitation energy greater than 1.5 MeV being populated following a decay in nuclei outside of the Pb-208 region.
|
|
| 10. |
- Petrache, C. M., et al.
(författare)
-
Multiple chiral bands in 137 Nd
- 2020
-
Ingår i: European Physical Journal A. - : Springer Nature. - 1434-6001 .- 1434-601X. ; 56:8
-
Tidskriftsartikel (refereegranskat)abstract
- Two new bands have been identified in 137Nd from a high-statistics JUROGAM II gamma-ray spectroscopy experiment. Constrained density functional theory and particle rotor model calculations are used to assign configurations and investigate the band properties, which are well described and understood. It is demonstrated that these two new bands can be interpreted as chiral partners of previously known three-quasiparticle positive- and negative-parity bands. The newly observed chiral doublet bands in 137Nd represent an important support to the existence of multiple chiral bands in nuclei. The present results constitute the missing stone in the series of Nd nuclei showing multiple chiral bands, which becomes the most extended sequence of odd–even and even-even nuclei presenting multiple chiral bands in the Segré chart.
|
|
