| 11. |
- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 12. |
- Joss, D. T., et al.
(författare)
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The influence of quasineutron configurations on 161Ta and nearby odd-A nuclei
- 2011
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Ingår i: AIP Conf. Proc.. - : AIP. - 9780735409835 ; , s. 43-48
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Konferensbidrag (refereegranskat)abstract
- Several strongly coupled bands in the neutron-deficient nucleus 161Ta have been identified and quasiparticle configuration assignments have been made on the basis of rotational alignments and cranked shell model calculations. The level scheme elucidated for 161Ta highlights the competition between the ν(h 9/2) and ν(i 13/2) orbitals to form the yrast spectrum. The band structures in 161Ta also provide new insights into the structural features of other heavy odd-A nuclei populated with much lower reaction cross sections in this region at the proton drip line.
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| 13. |
- Van De Vel, K., et al.
(författare)
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In-beam gamma-ray spectroscopy of Po-190 : First observation of a low-lying prolate band in Po isotopes
- 2003
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 17:2, s. 167-171
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Tidskriftsartikel (refereegranskat)abstract
- Gamma rays from excited states of Po-190 have been observed using I the Jurosphere Ge-detector array coupled to the RITU gas-filled separator. They were associated with a collective band which from spin 4h onwards resembles the prolate rotational bands known in the isotones Pb-188 and Hg-186. This indicates that in Po-190 the prolate configuration becomes yrast above I = 2h. The experimental results are interpreted in a two-band mixing calculation and are in agreement with a-decay data and potential energy surface calculations.
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| 14. |
- Joss, D. T., et al.
(författare)
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Recoil decay tagging of gamma rays in the extremely neutron-deficient nucleus Os-162
- 2004
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Ingår i: Physical Review C. Nuclear Physics. - : American Physical Society. - 0556-2813 .- 1089-490X. ; 70:1
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Tidskriftsartikel (refereegranskat)abstract
- The neutron-deficient nucleus Os-162, produced in the Cd-106(Ni-58,2n) reaction, has been studied using the JUROGAM gamma-ray spectrometer in conjunction with the RITU gas-filled separator and the GREAT focal plane spectrometer. gamma-ray transitions in Os-162 have been assigned for the first time through the application of the recoil decay tagging technique. The excitation energy of the 2(+) state and the tentative energy of the 8(+) state are discussed in terms of the systematic energy trends as the N=82 shell gap is approached.
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| 15. |
- Joss, D. T., et al.
(författare)
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Yrast states and band crossings in the neutron-deficient platinum isotopes Pt169-173
- 2006
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 74:1
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Tidskriftsartikel (refereegranskat)abstract
- The yrast states in the light platinum isotopes Pt169-173 have been investigated in a recoil-decay tagging experiment using the JUROGAM gamma-ray spectrometer in conjunction with the RITU gas-filled recoil separator and the GREAT tagging spectrometer. Gamma-ray transitions have been established for the first time in the odd-N isotopes, Pt-169 and Pt-173, and the yrast sequences in Pt-170 and Pt-172 have been extended. We discuss the possibility that the weakly deformed yrast structures of Pt-170, Pt-172, and Pt-173 are crossed by a deformed intruder configuration at spin similar to 8h.
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| 16. |
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| 17. |
- Kurki, MI, et al.
(författare)
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FinnGen provides genetic insights from a well-phenotyped isolated population
- 2023
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 613:7944, s. 508-
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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.
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| 18. |
- Lagergren, Karin, et al.
(författare)
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gamma-soft shapes and quasiparticle excitations in Ta-161(73)88
- 2011
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 83:1, s. 014313-
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in the neutron-deficient odd-Z nuclide Ta-161 were identified for the first time using the Cd-106(Ni-58,3p gamma) reaction at a beam energy of 270 MeV. The pi h(11/2) band, yrast at low spin, was observed up to (47/2(-)) and a further four strongly coupled bands have been established to high spin. Quasiparticle configuration assignments for the new band structures have been made on the basis of cranked shell model calculations. This work suggests that the negative-parity nu(f(7/2), h(9/2)) orbitals are responsible for the first rotational alignment in the pi h(11/2) band.
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| 19. |
- Lagergren, Karin, et al.
(författare)
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High-spin states in the proton-unbound nucleus Re-161
- 2006
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 74:2, s. 024316-
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in Re-161 were populated using the Cd-106(Ni-58, p2n) reaction at a beam energy of 270 MeV, resulting in the first observation of gamma rays emitted from this nucleus. The reaction products were separated from scattered beam and fission fragments by the gas-filled recoil separator RITU, and were implanted in the double-sided silicon strip detectors of the GREAT spectrometer. Prompt gamma rays were detected by the JUROGAM Ge detector array and were assigned to Re-161 based on alpha- and proton-decay tagging of the implanted reaction products. The near-yrast high-spin level structure, which was delineated to spins around 39/2, is discussed in the context of the total Routhian surface formalism. The level scheme is interpreted in terms of the alignment of h(9/2)/f(7/2) neutrons at lower spins, followed by excitations involving the pi h(11/2) subshell at higher spins.
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| 20. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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