| 1. |
- Akkoyun, S., et al.
(författare)
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AGATA - Advanced GAmma Tracking Array
- 2012
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Ingår i: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002 .- 0167-5087 .- 1872-9576. ; 668, s. 26-58
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Tidskriftsartikel (refereegranskat)abstract
- The Advanced GAmma Tracking Array (AGATA) is a European project to develop and operate the next generation γ-ray spectrometer. AGATA is based on the technique of γ-ray energy tracking in electrically segmented high-purity germanium crystals. This technique requires the accurate determination of the energy, time and position of every interaction as a γ ray deposits its energy within the detector volume. Reconstruction of the full interaction path results in a detector with very high efficiency and excellent spectral response. The realisation of γ-ray tracking and AGATA is a result of many technical advances. These include the development of encapsulated highly segmented germanium detectors assembled in a triple cluster detector cryostat, an electronics system with fast digital sampling and a data acquisition system to process the data at a high rate. The full characterisation of the crystals was measured and compared with detector- response simulations. This enabled pulse-shape analysis algorithms, to extract energy, time and position, to be employed. In addition, tracking algorithms for event reconstruction were developed. The first phase of AGATA is now complete and operational in its first physics campaign. In the future AGATA will be moved between laboratories in Europe and operated in a series of campaigns to take advantage of the different beams and facilities available to maximise its science output. The paper reviews all the achievements made in the AGATA project including all the necessary infrastructure to operate and support the spectrometer. © 2011 Elsevier B.V. All rights reserved.
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| 2. |
- Burgess, S., et al.
(författare)
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Bayesian methods for meta-analysis of causal relationships estimated using genetic instrumental variables
- 2010
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Ingår i: Statistics in medicine. - : Wiley. - 1097-0258 .- 0277-6715. ; 29:12, s. 1298-311
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Tidskriftsartikel (refereegranskat)abstract
- Genetic markers can be used as instrumental variables, in an analogous way to randomization in a clinical trial, to estimate the causal relationship between a phenotype and an outcome variable. Our purpose is to extend the existing methods for such Mendelian randomization studies to the context of multiple genetic markers measured in multiple studies, based on the analysis of individual participant data. First, for a single genetic marker in one study, we show that the usual ratio of coefficients approach can be reformulated as a regression with heterogeneous error in the explanatory variable. This can be implemented using a Bayesian approach, which is next extended to include multiple genetic markers. We then propose a hierarchical model for undertaking a meta-analysis of multiple studies, in which it is not necessary that the same genetic markers are measured in each study. This provides an overall estimate of the causal relationship between the phenotype and the outcome, and an assessment of its heterogeneity across studies. As an example, we estimate the causal relationship of blood concentrations of C-reactive protein on fibrinogen levels using data from 11 studies. These methods provide a flexible framework for efficient estimation of causal relationships derived from multiple studies. Issues discussed include weak instrument bias, analysis of binary outcome data such as disease risk, missing genetic data, and the use of haplotypes.
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| 3. |
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| 4. |
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| 5. |
- Schunkert, Heribert, et al.
(författare)
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:4, s. 153-333
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Tidskriftsartikel (refereegranskat)abstract
- We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 x 10(-8) and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits.
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| 6. |
- Gottardo, A., et al.
(författare)
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New Isomers in the Neutron-Rich Region Beyond 208Pb
- 2014
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X. - 9782759811755 - 9782759811762 ; 66, s. 02043-02043
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Konferensbidrag (refereegranskat)abstract
- The region of neutron-rich nuclei beyond 208Pb has been very difficult to explore due to its high mass and exoticity. However, recent experimental improvements allowed one to perform a quite extended isomer decay spectroscopy of these nuclei.
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| 7. |
- Assimes, Themistocles L., et al.
(författare)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Tidskriftsartikel (refereegranskat)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 8. |
- Benzoni, G., et al.
(författare)
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First Measurement of Beta Decay Half-lives in Neutron-rich Tl and Bi Isotopes
- 2012
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 715:4-5, s. 293-297
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Tidskriftsartikel (refereegranskat)abstract
- Neutron-rich isotopes around lead, beyond N = 126, have been studied exploiting the fragmentation of an uranium primary beam at the FRS-RISING setup at GSI. For the first time beta-decay half-lives of Bi-219 and Tl-211,Tl-212,Tl-213 isotopes have been derived. The half-lives have been extracted using a numerical simulation developed for experiments in high-background conditions. Comparison with state of the art models used in r-process calculations is given, showing a systematic underestimation of the experimental values, at variance from close-lying nuclei. (c) 2012 Elsevier B.V. All rights reserved.
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| 9. |
- Gottardo, A., et al.
(författare)
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Isomers in Neutron-rich Lead Isotopes Populated via the Fragmentation of 238U at 1 GeV A
- 2011
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6596 .- 1742-6588. ; 312
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Tidskriftsartikel (refereegranskat)abstract
- Neutron-rich nuclei beyond N = 126 in the lead region were populated by fragmenting a 238U beam at 1 GeV A on a Be target and then separated by the Fragment Separator (FRS) at GSI. Their isomeric decays were observed, enabling study of the shell structure of neutron-rich nuclei around the Z=82 shell closure. Some preliminary results are reported in this paper.
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| 10. |
- Gottardo, A., et al.
(författare)
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New Isomers in the Full Seniority Scheme of Neutron-rich Lead Isotopes: The Role of Effective Three-body Forces
- 2012
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Ingår i: Physical Review Letters. - 1079-7114. ; 109:16
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Tidskriftsartikel (refereegranskat)abstract
- The neutron-rich lead isotopes, up to Pb-216, have been studied for the first time, exploiting the fragmentation of a primary uranium beam at the FRS-RISING setup at GSI. The observed isomeric states exhibit electromagnetic transition strengths which deviate from state-of-the-art shell-model calculations. It is shown that their complete description demands the introduction of effective three-body interactions and two-body transition operators in the conventional neutron valence space beyond Pb-208.
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| 11. |
- Gottardo, A., et al.
(författare)
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New μs Isomers in the Neutron-rich 210Hg Nucleus
- 2013
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 725:4-5, s. 292-296
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Tidskriftsartikel (refereegranskat)abstract
- Neutron-rich nuclei in the lead region, beyond N = 126, have been studied at the FRS-RISING setup at GSI, exploiting the fragmentation of a primary uranium beam. Two isomeric states have been identified in Hg-210: the 8(+) isomer expected from the seniority scheme in the vg(9/2) shell and a second one at low spin and low excitation energy. The decay strength of the 8(+) isomer confirms the need of effective three-body forces in the case of neutron-rich lead isotopes. The other unexpected low-lying isomer has been tentatively assigned as a 3(-) state, although this is in contrast with theoretical expectations. (C) 2013 Elsevier B.V. All rights reserved.
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| 12. |
- Morales, A.I., et al.
(författare)
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β-decay Studies of Neutron-rich Tl, Pb, and Bi Isotopes
- 2014
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 89:1
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Tidskriftsartikel (refereegranskat)abstract
- The fragmentation of relativistic uranium projectiles has been exploited at the Gesellschaft für Schwerionenforschung laboratory to investigate the β decay of neutron-rich nuclei just beyond 208Pb. This paper reports on β-delayed γ decays of 211–213Tl, 215Pb, and 215–219Bi de-exciting states in the daughters 211–213Pb, 215Bi, and 215–219Po. The resulting partial level schemes, proposed with the help of systematics and shell-model calculations, are presented. The role of allowed Gamow-Teller and first-forbidden β transitions in this mass region is discussed.
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| 13. |
- Wadsworth, R., et al.
(författare)
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Spin-gap Isomer in 96Cd
- 2012
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6596 .- 1742-6588. ; 381:1
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Tidskriftsartikel (refereegranskat)abstract
- Evidence has been obtained for the existence of the long predicted 16+ spin-gap isomer in 96Cd. The decay of the isomer was identified and studied following the use of an 850 MeV/u beam of 124Xe impinging on a Be target and the fragment recoil separator at the GSI Laboratory. Gamma decays from the fragments were detected using the RISING gamma ray array, in its stopped beam configuration, plus a silicon active stopper. The data obtained have been compared with shell model predictions, which indicate that the isoscalar neutron-proton interaction plays a key role in the formation of the isomer.
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| 14. |
- Boutachkov, P., et al.
(författare)
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High-spin isomers in 96Ag : excitations across the Z=38 and Z=50, N=50 closed shells
- 2011
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 84:4
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in (96)Ag were populated in fragmentation of an 850-MeV/u (124)Xe beam on a 4-g/cm(2) Be target. Three new high-spin isomers were identified and the structure of the populated states was investigated. The level scheme of (96)Ag was established, and a spin parity of (13(-)), (15(+)), and (19(+)) was assigned to the new isomeric states. Shell-model calculations were performed in various model spaces, including pi nu(p(1/2), g(9/2), f(5/2), p(3/2)) and the large-scale shell-model space pi nu(gds), to account for the observed parity changing M2 and E3 transitions from the (13(-)) isomer and the E2 and E4 transitions from the (19(+)) core-excited isomer, respectively. The calculated level schemes and reduced transition strengths are found to be in very good agreement with the experiment.
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| 15. |
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| 16. |
- Brock, T. S., et al.
(författare)
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Observation of a new high-spin isomer in Pd-94
- 2010
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 82:6, s. 061309-
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Tidskriftsartikel (refereegranskat)abstract
- A second gamma-decaying high-spin isomeric state, with a half-life of 197(22) ns, has been identified in the N = Z + 2 nuclide Pd-94 as part of a stopped-beam Rare Isotope Spectroscopic INvestigation at GSI (RISING) experiment. Weisskopf estimates were used to establish a tentative spin/parity of 19(-), corresponding to the maximum possible spin of a negative parity state in the restricted (p(1/2), g(9/2)) model space of empirical shell model calculations. The reproduction of the E3 decay properties of the isomer required an extension of the model space to include the f (5/2) and p(3/2) orbitals using the CD-Bonn potential. This is the first time that such an extension has been required for a high-spin isomer in the vicinity of Sn-100 and reveals the importance of such orbits for understanding the decay properties of high-spin isomers in this region. However, despite the need for the extended model space for the E3 decay, the dominant configuration for the 19(-) state remains (p p(1/2)(-1)g(9/2)(-3))(11)circle times(nu g(9/2)(-2))(8). The half-life of the known, 14(+), isomer was remeasured and yielded a value of 499(13) ns.
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| 17. |
- Gottardo, A., et al.
(författare)
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Isomeric Decay Spectroscopy of the 217Bi Isotope
- 2014
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 90:3
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Tidskriftsartikel (refereegranskat)abstract
- The structure of the neutron-rich bismuth isotope 217Bi has been studied for the first time. The fragmentation of a primary 238U beam at the FRS-RISING setup at GSI was exploited to perform γ-decay spectroscopy, since μs isomeric states were expected in this nucleus. Gamma rays following the decay of a t1/2=3 μs isomer were observed, allowing one to establish the low-lying structure of 217Bi. The level energies and the reduced electric quadrupole transition probability B(E2) from the isomeric state are compared to large-scale shell-model calculations.
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| 18. |
- Nara Singh, B. S., et al.
(författare)
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Exotic Nuclear Studies Around and Below A=100
- 2011
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Ingår i: 4th International Conference on Proton Emitting Nuclei and Related Topics, PROCON2011. - : AIP. - 9780735409835 ; 1409, s. 19-24
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Konferensbidrag (refereegranskat)abstract
- A RISING experiment with an aim to study exotic Cd nuclei was carried out at GSI-FRS facility. Some preliminary results from this experiment are presented here. In particular, the β decay of 96Cd to 96Ag revealed the existence of a high spin isomer predicted a few decades ago. In this context, the structures of both these nuclei are discussed. Shell model calculations using the Gross-Frenkel interaction are used to interpret the results.
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| 19. |
- Singh, B. S. Nara, et al.
(författare)
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16(+) Spin-Gap Isomer in (96)Cd
- 2011
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 107:17, s. 172502-
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Tidskriftsartikel (refereegranskat)abstract
- A beta-decaying high-spin isomer in (96)Cd, with a half-life T(1/2) = 0.29(-0.10)(+0.11) s, has been established in a stopped beam rare isotope spectroscopic investigations at GSI (RISING) experiment. The nuclei were produced using the fragmentation of a primary beam of (124)Xe on a (9)Be target. From the half-life and the observed gamma decays in the daughter nucleus, (96)Ag, we conclude that the beta-decaying state is the long predicted 16(+) "spin-gap'' isomer. Shell-model calculations, using the Gross-Frenkel interaction and the pi nu(p(1/2,)g(9/2)) model space, show that the isoscalar component of the neutron-proton interaction is essential to explain the origin of the isomer. Core excitations across the N = Z = 50 gaps and the Gamow-Teller strength, Bd(GT) distributions have been studied via large-scale shell-model calculations using the pi nu(g, d, s) model space to compare with the experimental B(GT) value obtained from the half-life of the isomer.
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| 20. |
- Singh, B. S. Nara, et al.
(författare)
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Influence of the np interaction on the beta decay of Pd-94
- 2012
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 86:4, s. 041301-
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Tidskriftsartikel (refereegranskat)abstract
- We present results from stopped beam rare isotope spectroscopic investigations at the GSI (RISING) experiment based on the detection of gamma-ray transitions following the beta decay of Pd-94. A comparison between the measured low-lying level scheme of Rh-94 and the prediction from shell-model calculations reveals the important roles of the g(7/2) and g(9/2) orbitals in explaining the structural features. The low values of the Gamow-Teller strengths B(GT) can be attributed to the influence of the neutron-proton interaction, which gives rise to an increased seniority mixing for the nuclear states, thereby leading to a fragmentation of the strength to several daughter levels. These results provide further strong indications that Pd-94 resides in the middle of a structural transition region in the Pd isotopes as the N = Z line is approached.
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| 21. |
- Gaudet, Mia M., et al.
(författare)
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Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
- 2010
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 6:10
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Tidskriftsartikel (refereegranskat)abstract
- The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (, 40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (lambda) was 1.011. The stage 1 association analysis revealed multiple variants associated with breast cancer risk: 3 SNPs had p-values, 10 25 and 39 SNPs had p-values<10(-4). These variants included several previously associated with sporadic breast cancer risk and two novel loci on chromosome 20 (rs311499) and chromosome 10 (rs16917302). The chromosome 10 locus was in ZNF365, which contains another variant that has recently been associated with breast cancer in an independent study of unselected cases. In stage 2, the top 85 loci from stage 1 were genotyped in 1,264 cases and 1,222 controls. Hazard ratios (HR) and 95% confidence intervals (CI) for stage 1 and 2 were combined and estimated using a retrospective likelihood approach, stratified by country of residence and the most common mutation, BRCA2*6174delT. The combined per allele HR of the minor allele for the novel loci rs16917302 was 0.75 (95% CI 0.66-0.86, p = 3: 8 x 10(-5)) and for rs311499 was 0.72 (95% CI 0.61-0.85, p = 6: 6 x 10(-5)). FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, p = 1: 2 x 10(-8)). These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.
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| 22. |
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| 23. |
- Voight, Benjamin F, et al.
(författare)
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Plasma HDL cholesterol and risk of myocardial infarction : a mendelian randomisation study
- 2012
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Ingår i: The Lancet. - 0140-6736 .- 1474-547X. ; 380:9841, s. 572-580
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomarker with disease is causal.METHODS: We performed two mendelian randomisation analyses. First, we used as an instrument a single nucleotide polymorphism (SNP) in the endothelial lipase gene (LIPG Asn396Ser) and tested this SNP in 20 studies (20,913 myocardial infarction cases, 95,407 controls). Second, we used as an instrument a genetic score consisting of 14 common SNPs that exclusively associate with HDL cholesterol and tested this score in up to 12,482 cases of myocardial infarction and 41,331 controls. As a positive control, we also tested a genetic score of 13 common SNPs exclusively associated with LDL cholesterol.FINDINGS: Carriers of the LIPG 396Ser allele (2·6% frequency) had higher HDL cholesterol (0·14 mmol/L higher, p=8×10(-13)) but similar levels of other lipid and non-lipid risk factors for myocardial infarction compared with non-carriers. This difference in HDL cholesterol is expected to decrease risk of myocardial infarction by 13% (odds ratio [OR] 0·87, 95% CI 0·84-0·91). However, we noted that the 396Ser allele was not associated with risk of myocardial infarction (OR 0·99, 95% CI 0·88-1·11, p=0·85). From observational epidemiology, an increase of 1 SD in HDL cholesterol was associated with reduced risk of myocardial infarction (OR 0·62, 95% CI 0·58-0·66). However, a 1 SD increase in HDL cholesterol due to genetic score was not associated with risk of myocardial infarction (OR 0·93, 95% CI 0·68-1·26, p=0·63). For LDL cholesterol, the estimate from observational epidemiology (a 1 SD increase in LDL cholesterol associated with OR 1·54, 95% CI 1·45-1·63) was concordant with that from genetic score (OR 2·13, 95% CI 1·69-2·69, p=2×10(-10)).INTERPRETATION: Some genetic mechanisms that raise plasma HDL cholesterol do not seem to lower risk of myocardial infarction. These data challenge the concept that raising of plasma HDL cholesterol will uniformly translate into reductions in risk of myocardial infarction.
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| 24. |
- Blazhev, A, et al.
(författare)
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High-energy excited states in 98 Cd
- 2010
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Ingår i: Journal of Physics: Conference Series. ; 205:1
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Tidskriftsartikel (refereegranskat)abstract
- In 98 Cd a new high-energy isomeric γ -ray transition was identified, which confirms previous spin-parity assignments and enables for the first time the measurement of the E 2 and E 4 strength for the two decay branches of the isomer. Preliminary results on the 98 Cd high-excitation level scheme are presented. A comparison to shell-model calculations as well as implications for the nuclear structure around 100 Sn are discussed.
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| 25. |
- Blazhev, A, et al.
(författare)
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High-energy Excited States in 98Cd
- 2010
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6596. ; 205
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Tidskriftsartikel (refereegranskat)abstract
- In 98Cd a new high-energy isomeric γ-ray transition was identified, which confirms previous spin-parity assignments and enables for the first time the measurement of the E2 and E4 strength for the two decay branches of the isomer. Preliminary results on the 98Cd high-excitation level scheme are presented. A comparison to shell-model calculations as well as implications for the nuclear structure around 100Sn are discussed.
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| 26. |
- Boutachkov, P., et al.
(författare)
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Isomer and Beta-decay Spectroscopy of Tz=1 Isotopes Below the N=Z=50 Shell Gap
- 2011
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6596 .- 1742-6588. ; 312:9
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Tidskriftsartikel (refereegranskat)abstract
- The RISING setup at the GSI-FRS facility was used to investigate the isomer and beta decays in N~Z~50 Cd, Ag and Pd isotopes. A preliminary analysis of the data has revealed new results on the Tz=1, 94Pd, 96Ag and 98Cd isotopes. In 94Pd a new high-spin isomer was observed, whilst in 96Ag 3 new isomeric states were identified, including core-excited states. In 98Cd a new high-energy isomeric γ-ray transition is observed, thus enabling us to confirm the previous spin assignment for the core-excited 12+ isomer.
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| 27. |
- Peden, John F., et al.
(författare)
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A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:4, s. 339-344
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have identified 11 common variants convincingly associated with coronary artery disease (CAD)(1-7), a modest number considering the apparent heritability of CAD(8). All of these variants have been discovered in European populations. We report a meta-analysis of four large genome-wide association studies of CAD, with similar to 575,000 genotyped SNPs in a discovery dataset comprising 15,420 individuals with CAD (cases) (8,424 Europeans and 6,996 South Asians) and 15,062 controls. There was little evidence for ancestry-specific associations, supporting the use of combined analyses. Replication in an independent sample of 21,408 cases and 19,185 controls identified five loci newly associated with CAD (P < 5 x 10(-8) in the combined discovery and replication analysis): LIPA on 10q23, PDGFD on 11q22, ADAMTS7-MORF4L1 on 15q25, a gene rich locus on 7q22 and KIAA1462 on 10p11. The CAD-associated SNP in the PDGFD locus showed tissue-specific cis expression quantitative trait locus effects. These findings implicate new pathways for CAD susceptibility.
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| 28. |
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| 29. |
- Enciso-Mora, Victor, et al.
(författare)
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A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1126-1130
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Tidskriftsartikel (refereegranskat)abstract
- To identify susceptibility loci for classical Hodgkin's lymphoma (cHL), we conducted a genome-wide association study of 589 individuals with cHL (cases) and 5,199 controls with validation in four independent samples totaling 2,057 cases and 3,416 controls. We identified three new susceptibility loci at 2p16.1 (rs1432295, REL, odds ratio (OR) = 1.22, combined P = 1.91 × 10−8), 8q24.21 (rs2019960, PVT1, OR = 1.33, combined P = 1.26 × 10−13) and 10p14 (rs501764, GATA3, OR = 1.25, combined P = 7.05 × 10−8). Furthermore, we confirmed the role of the major histocompatibility complex in disease etiology by revealing a strong human leukocyte antigen (HLA) association (rs6903608, OR = 1.70, combined P = 2.84 × 10−50). These data provide new insight into the pathogenesis of cHL.
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| 30. |
- Frampton, Matthew, et al.
(författare)
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Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma
- 2013
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- In addition to HLA, recent genome-wide association studies (GWASs) of Hodgkin's lymphoma (HL) have identified susceptibility loci for HL at 2p16.1, 8q24.21 and 10p14. In this study, we perform a GWAS meta-analysis with published GWAS (totalling 1,465 cases and 6,417 controls of European background), and follow-up the most significant association signals in 2,024 cases and 1,853 controls. A combined analysis identifies new HL susceptibility loci mapping to 3p24.1 (rs3806624; P = 1.14 x 10(-12), odds ratio (OR) = 1.26) and 6q23.3 (rs7745098; P = 3.42 x 10(-9), OR = 1.21). rs3806624 localizes 5' to the EOMES (eomesodermin) gene within a p53 response element affecting p53 binding. rs7745098 maps intergenic to HBS1L and MYB, a region previously associated with haematopoiesis. These findings provide further insight into the genetic and biological basis of inherited susceptibility to HL.
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