| 1. |
- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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| 6. |
- Pulit, S. L., et al.
(författare)
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Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
- 2018
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Ingår i: Neurology-Genetics. - : Ovid Technologies (Wolters Kluwer Health). - 2376-7839. ; 4:6
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Tidskriftsartikel (refereegranskat)abstract
- Objective We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors. We observed a strong correlation between previously reported genetic risk for AF, AF in the presence of stroke, and cardioembolic stroke (Pearson r = 0.77 and 0.76, respectively, across SNPs with p < 4.4 x 10(-4) in the previous AF meta-analysis). An AF PRS, adjusted for clinical AF risk factors, was associated with cardioembolic stroke (odds ratio [OR] per SD = 1.40, p = 1.45 x 10(-48)), explaining similar to 20% of the heritable component of cardioembolic stroke risk. The AF PRS was also associated with stroke of undetermined cause (OR per SD = 1.07,p = 0.004), but no other primary stroke subtypes (all p > 0.1). Genetic risk of AF is associated with cardioembolic stroke, independent of clinical risk factors. Studies are warranted to determine whether AF genetic risk can serve as a biomarker for strokes caused by AF.
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| 9. |
- Deo, R., et al.
(författare)
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Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: A genome-wide association study of 13,372 participants
- 2013
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Ingår i: Heart Rhythm. - : Elsevier BV. - 1547-5271. ; 10:3, s. 401-408
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Genome-wide association studies have identified several genetic loci associated with variation in resting heart rate in European and Asian populations. No study has evaluated genetic variants associated with heart rate in African Americans. OBJECTIVE To identify novel genetic variants associated with resting heart rate in African Americans. METHODS Ten cohort studies participating in the Candidate-gene Association Resource and Continental Origins and Genetic Epidemiology Network consortia performed genome-wide genotyping of singe nucleotide polymorphisms (SNPs) and imputed 2,954,965 SNPs using HapMap YRI and CEU panels in 13,372 participants of African ancestry. Each study measured the RR interval (ms) from 10-second resting 12-lead electrocardiograms and estimated RR-SNP associations using covariate-adjusted linear regression. Random-effects meta-analysis was used to combine cohort-specific measures of association and identify genome-wide significant loci (P <= 2.5 x 10(-8)). RESULTS Fourteen SNPs on chromosome 6q22 exceeded the genome-wide significance threshold. The most significant association was for rs9320841 (+13 ms per minor allele; P = 4.98 x 10(-15)). This SNP was approximately 350 kb downstream of GJA1, a locus previously identified as harboring SNPs associated with heart rate in Europeans. Adjustment for rs9320841 also attenuated the association between the remaining 13 SNPs in this region and heart rate. In addition, SNPs in MYH6, which have been identified in European genome-wide association study, were associated with similar changes in the resting heart rate as this population of African Americans. CONCLUSIONS An intergenic region downstream of GJA1 (the gene encoding connexin 43, the major protein of the human myocardial gap junction) and an intragenic region within MYH6 are associated with variation in resting heart rate in African Americans as well as in populations of European and Asian origin.
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| 14. |
- Sampson, Joshua N., et al.
(författare)
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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| 15. |
- Aghion, S., et al.
(författare)
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A moiré deflectometer for antimatter
- 2014
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- The precise measurement of forces is one way to obtain deep insight into the fundamental interactions present in nature. In the context of neutral antimatter, the gravitational interaction is of high interest, potentially revealing new forces that violate the weak equivalence principle. Here we report on a successful extension of a tool from atom optics—the moiré deflectometer—for a measurement of the acceleration of slow antiprotons. The setup consists of two identical transmission gratings and a spatially resolving emulsion detector for antiproton annihilations. Absolute referencing of the observed antimatter pattern with a photon pattern experiencing no deflection allows the direct inference of forces present. The concept is also straightforwardly applicable to antihydrogen measurements as pursued by the AEgIS collaboration. The combination of these very different techniques from high energy and atomic physics opens a very promising route to the direct detection of the gravitational acceleration of neutral antimatter.
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| 16. |
- Ariga, T., et al.
(författare)
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Measuring GBAR with emulsion detector
- 2014
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Ingår i: International Journal of Modern Physics, Conference Series. - : World Scientific. - 2010-1945. ; 30
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Tidskriftsartikel (refereegranskat)
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| 17. |
- Berndt, Sonja, I, et al.
(författare)
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Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
- 2022
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Ingår i: Leukemia. - : Springer Nature. - 0887-6924 .- 1476-5551. ; 36:12, s. 2835-2844
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Tidskriftsartikel (refereegranskat)abstract
- Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtypes and discover novel loci shared among subtypes, we analyzed data from eight genome-wide association studies within the InterLymph Consortium, including 10,629 cases and 9505 controls. We utilized Association analysis based on SubSETs (ASSET) to discover loci for subsets of NHL subtypes and evaluated shared heritability across the genome using Genome-wide Complex Trait Analysis (GCTA) and polygenic risk scores. We discovered 17 genome-wide significant loci (P < 5 × 10−8) for subsets of NHL subtypes, including a novel locus at 10q23.33 (HHEX) (P = 3.27 × 10−9). Most subset associations were driven primarily by only one subtype. Genome-wide genetic correlations between pairs of subtypes varied broadly from 0.20 to 0.86, suggesting substantial heterogeneity in the extent of shared heritability among subtypes. Polygenic risk score analyses of established loci for different lymphoid malignancies identified strong associations with some NHL subtypes (P < 5 × 10−8), but weak or null associations with others. Although our analyses suggest partially shared heritability and biological pathways, they reveal substantial heterogeneity among NHL subtypes with each having its own distinct germline genetic architecture.
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| 18. |
- Butler, Anne M., et al.
(författare)
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Novel Loci Associated With PR Interval in a Genome-Wide Association Study of 10 African American Cohorts
- 2012
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Ingår i: Circulation: Cardiovascular Genetics. - 1942-325X. ; 5:6, s. 639-646
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Tidskriftsartikel (refereegranskat)abstract
- Background-The PR interval, as measured by the resting, standard 12-lead ECG, reflects the duration of atrial/atrioventricular nodal depolarization. Substantial evidence exists for a genetic contribution to PR, including genome-wide association studies that have identified common genetic variants at 9 loci influencing PR in populations of European and Asian descent. However, few studies have examined loci associated with PR in African Americans. Methods and Results-We present results from the largest genome-wide association study to date of PR in 13 415 adults of African descent from 10 cohorts. We tested for association between PR (ms) and approximate to 2.8 million genotyped and imputed single-nucleotide polymorphisms. Imputation was performed using HapMap 2 YRI and CEU panels. Study-specific results, adjusted for global ancestry and clinical correlates of PR, were meta-analyzed using the inverse variance method. Variation in genome-wide test statistic distributions was noted within studies (lambda range: 0.9-1.1), although not after genomic control correction was applied to the overall meta-analysis (lambda: 1.008). In addition to generalizing previously reported associations with MEIS1, SCN5A, ARHGAP24, CAV1, and TBX5 to African American populations at the genome-wide significance level (P<5.0x10(-8)), we also identified a novel locus: ITGA9, located in a region previously implicated in SCN5A expression. The 3p21 region harboring SCN5A also contained 2 additional independent secondary signals influencing PR (P<5.0x10-8). Conclusions-This study demonstrates the ability to map novel loci in African Americans as well as the generalizability of loci associated with PR across populations of African, European, and Asian descent. (Circ Cardiovasc Genet. 2012;5:639-646.)
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| 19. |
- Elgazzar, Saad, et al.
(författare)
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Ab initio computational and experimental investigation of the electronic structure of actinide 218 materials
- 2010
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 81:23, s. 235117-
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Tidskriftsartikel (refereegranskat)abstract
- We report a comprehensive investigation of the electronic structure and magnetic properties of actinide 218 compounds, which crystallize in the tetragonal Ho2CoGa8 crystal structure. Specifically, we study experimentally the group of plutonium-based compounds Pu2MGa8 (with M=Rh, Co, and Fe), which are structurally related to the unconventional superconductors PuCoGa5 and PuRhGa5 and are measured to be nonmagnetic and nonsuperconducting down to 2 K, yet displaying relatively high linear specific-heat coefficients of 61 to 133 mJ/mol K-2. We perform density-functional theory based calculations, in which we apply three different approaches to access the tendency of 5f electron localization, the local spin-density approximation (LSDA) LSDA+U, and the 5f open-core approach. For comparison to the above-mentioned compounds we also investigate computationally the plutonium compounds with M=Ir and Pd, the uranium-based compounds U2MGa8 (with M=Co, Fe, Rh, and Ru), as well as Np2CoGa8, and Am2CoGa8. On the basis of ab initio LSDA calculations we optimize the equilibrium lattice parameters and the internal fractional coordinates within the Ho2CoGa8 crystal structure. The obtained lattice parameters are in relatively good agreement with experimental values, when we assume delocalized 5f states for all compounds except Am2CoGa8. We discuss the computed electronic structures and the theoretical Fermi surfaces. For the Pu-218 compounds we find that LSDA calculations, in which the 5f's are treated as delocalized, predict a magnetically ordered ground state, whereas LSDA+U calculations predict a nonmagnetic ground state in accordance with experiment. For the U-218 compounds the LSDA itinerant 5f approach predicts a nonmagnetic ground state, in accordance with available experimental data. For Am2CoGa8 our calculations are consistent with the scenario of localized 5f electrons. We find that, on account of the elongated tetragonal structure, most of the theoretical Fermi surfaces are quasi-two-dimensional.
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| 20. |
- Feigin, Valery L., et al.
(författare)
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Global, regional, and national burden of stroke and its risk factors, 1990-2019 : a systematic analysis for the Global Burden of Disease Study 2019
- 2021
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Ingår i: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 20:10, s. 795-820
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Tidskriftsartikel (refereegranskat)abstract
- Background Regularly updated data on stroke and its pathological types, including data on their incidence, prevalence, mortality, disability, risk factors, and epidemiological trends, are important for evidence-based stroke care planning and resource allocation. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) aims to provide a standardised and comprehensive measurement of these metrics at global, regional, and national levels. Methods We applied GBD 2019 analytical tools to calculate stroke incidence, prevalence, mortality, disability-adjusted life-years (DALYs), and the population attributable fraction (PAF) of DALYs (with corresponding 95% uncertainty intervals [UIs]) associated with 19 risk factors, for 204 countries and territories from 1990 to 2019. These estimates were provided for ischaemic stroke, intracerebral haemorrhage, subarachnoid haemorrhage, and all strokes combined, and stratified by sex, age group, and World Bank country income level. Findings In 2019, there were 12.2 million (95% UI 11.0-13.6) incident cases of stroke, 101 million (93.2-111) prevalent cases of stroke, 143 million (133-153) DALYs due to stroke, and 6.55 million (6.00-7.02) deaths from stroke. Globally, stroke remained the second-leading cause of death (11.6% [10.8-12.2] of total deaths) and the third-leading cause of death and disability combined (5.7% [5.1-6.2] of total DALYs) in 2019. From 1990 to 2019, the absolute number of incident strokes increased by 70.0% (67.0-73.0), prevalent strokes increased by 85.0% (83.0-88.0), deaths from stroke increased by 43.0% (31.0-55.0), and DALYs due to stroke increased by 32.0% (22.0-42.0). During the same period, age-standardised rates of stroke incidence decreased by 17.0% (15.0-18.0), mortality decreased by 36.0% (31.0-42.0), prevalence decreased by 6.0% (5.0-7.0), and DALYs decreased by 36.0% (31.0-42.0). However, among people younger than 70 years, prevalence rates increased by 22.0% (21.0-24.0) and incidence rates increased by 15.0% (12.0-18.0). In 2019, the age-standardised stroke-related mortality rate was 3.6 (3.5-3.8) times higher in the World Bank low-income group than in the World Bank high-income group, and the age-standardised stroke-related DALY rate was 3.7 (3.5-3.9) times higher in the low-income group than the high-income group. Ischaemic stroke constituted 62.4% of all incident strokes in 2019 (7.63 million [6.57-8.96]), while intracerebral haemorrhage constituted 27.9% (3.41 million [2.97-3.91]) and subarachnoid haemorrhage constituted 9.7% (1.18 million [1.01-1.39]). In 2019, the five leading risk factors for stroke were high systolic blood pressure (contributing to 79.6 million [67.7-90.8] DALYs or 55.5% [48.2-62.0] of total stroke DALYs), high body-mass index (34.9 million [22.3-48.6] DALYs or 24.3% [15.7-33.2]), high fasting plasma glucose (28.9 million [19.8-41.5] DALYs or 20.2% [13.8-29.1]), ambient particulate matter pollution (28.7 million [23.4-33.4] DALYs or 20.1% [16.6-23.0]), and smoking (25.3 million [22.6-28.2] DALYs or 17.6% [16.4-19.0]). Interpretation The annual number of strokes and deaths due to stroke increased substantially from 1990 to 2019, despite substantial reductions in age-standardised rates, particularly among people older than 70 years. The highest age-standardised stroke-related mortality and DALY rates were in the World Bank low-income group. The fastest-growing risk factor for stroke between 1990 and 2019 was high body-mass index. Without urgent implementation of effective primary prevention strategies, the stroke burden will probably continue to grow across the world, particularly in low-income countries.
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| 21. |
- Heathman, S, et al.
(författare)
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Experimental and ab initio volume compressibility curves of NpCoGa5
- 2010
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 81:2, s. 024106-
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Tidskriftsartikel (refereegranskat)abstract
- We report the results of high-pressure, angular-dispersive, x-ray diffraction measurements performed on NpCoGa5, a magnetic isostructural analog of the PuCoGa5 superconductor. No crystallographic transitions or discontinuous volume collapses have been observed by increasing pressure p up to 39 GPa. A fit to the Birch-Murnaghan equation of state gives values of the isothermal bulk modulus and its pressure derivative B-0=130 GPa and B-0'=4.8, respectively. The volume compressibility curve is in excellent agreement with the results of ab initio fully relativistic, full potential local spin-density-functional calculations. A comparison to experimental and ab initio calculated compressibility data of PuCoGa5 and PuRhGa5 is also made.
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| 22. |
- Ilkhanoff, Leonard, et al.
(författare)
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A Common SCN5A Variant Is Associated with PR Interval and Atrial Fibrillation Among African Americans
- 2014
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Ingår i: Journal of Cardiovascular Electrophysiology. - : Wiley. - 1540-8167 .- 1045-3873. ; 25:11, s. 1150-1157
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Tidskriftsartikel (refereegranskat)abstract
- rs7629265 and AF Risk ObjectiveWe examined the association of rs7626962 (S1103Y) or rs7629265, a variant in high linkage disequilibrium with S1103Y (r(2) = 0.87 - 1), with sudden cardiac death (SCD) and atrial fibrillation (AF) among African Americans. BackgroundThe SCN5A missense variant S1103Y has been associated with SCD among African Americans in small case-control studies, but larger population-based studies are needed to validate these findings. The association of this variant with AF has not been fully explored. MethodsUsing genotyping data on over 7,000 African Americans from 5 cohorts (Atherosclerosis Risk in Communities [ARIC], Cleveland Family Study [CFS], Jackson Heart Study [JHS], Multi-Ethnic Study of Atherosclerosis [MESA], Cardiovascular Health Study [CHS]), we examined the association of rs7629265 with electrocardiographic PR, QRS, and QT intervals, and with incident AF and SCD. We examined association of S1103Y (rs7626962) with SCD using a population-based case-control study of SCD Cardiac Arrest Blood Study (CABS). ResultsMeta-analyses across 5 cohorts demonstrated that rs7629265 was significantly associated with PR duration ( = -4.1 milliseconds; P = 2.2x10(-6)), but not significantly associated with QRS or QT intervals. In meta-analyses of prospectively followed ARIC and CHS participants (n = 3,656), rs7629265 was associated with increased AF risk (n = 299 AF cases; HR = 1.74, P = 1.9 x 10(-4)). By contrast, rs7629265 was not significantly associated with SCD risk in ARIC (n = 83 SCD cases; P = 0.30) or CHS (n = 54 SCD cases; P = 0.47). Similarly, S1103Y was not significantly associated with SCD risk in CABS (n = 225 SCD cases; P = 0.29). ConclusionThe common SCN5A variant, rs7629265, is associated with increased AF risk and shorter PR interval among African Americans. In contrast to prior reports, we found no evidence of association of rs7629265 or rs7626962 (S1103Y) with SCD risk in the general population.
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| 23. |
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| 24. |
- Lim, J. A., et al.
(författare)
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Unexpected phase locking of magnetic fluctuations in the multi-k magnet USb
- 2013
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Ingår i: Physical Review B (Condensed Matter and Materials Physics). - 1098-0121. ; 87:6
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Tidskriftsartikel (refereegranskat)abstract
- The spin waves in the multi-k antiferromagnet USb soften and become quasielastic well below the antiferromagnetic ordering temperature T-N. This occurs without a magnetic or structural transition. It has been suggested that this change is in fact due to dephasing of the different multi-k components: a switch from 3-k to 1-k behavior. In this work, we use inelastic neutron scattering with tridirectional polarization analysis to probe the quasielastic magnetic excitations and reveal that the 3-k structure does not dephase. More surprisingly, the paramagnetic correlations also maintain the same clear phase correlations well above T-N ( up to at least 1.4T(N)). DOI: 10.1103/PhysRevB.87.064421
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| 25. |
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| 26. |
- Lubenow, Norbert, et al.
(författare)
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Results of a systematic evaluation of treatment outcomes for heparin-induced thrombocytopenia in patients receiving danaparoid, ancrod, and/or coumarin explain the rapid shift in clinical practice during the 1990s.
- 2006
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Ingår i: Thrombosis Research. - : Elsevier BV. - 0049-3848 .- 1879-2472. ; 117:5, s. 507-15
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Randomized controlled trials evaluating treatment of acute, transient, but uncommon diseases are difficult to perform. The prothrombotic adverse drug reaction, heparin-induced thrombocytopenia (HIT), is such an example. During the mid-1980s, the defibrinogenating snake venom, ancrod (+/-warfarin, Canada), or coumarin (warfarin, Canada; phenprocoumon, Germany) alone, were often used to treat HIT. During the 1990s, danaparoid+/-coumarin began to replace ancrod (+/-coumarin), or coumarin alone, for treating HIT, despite danaparoid not being approved for treatment of HIT. METHODS: We performed a retrospective evaluation of treatment outcomes from 1986 to 1999, comparing danaparoid+/-coumarin (n=62) versus ancrod+/-coumarin or coumarin alone (controls, n=56). RESULTS: The predefined composite endpoint of adjudicated new, progressive, or recurrent thrombosis (including thrombotic death), or limb amputation, at day 7 (maximum, one event per patient) was significantly lower in danaparoid-treated patients, compared with controls: 8/62=12.9% (95% CI, 4.3-21.5) vs. 22/56=39.3% (95% CI, 26.1-52.5); p=0.0014. We also found a lower frequency of the composite endpoint at end of study (day 35) in danaparoid-treated patients: 12/62=19.4% vs. 24/56=42.9% (p=0.0088). Major bleeding (by day 7) occurred in 7/62 (11.3%) and 16/56 (28.6%) of danaparoid-treated and control patients, respectively (p=0.0211). CONCLUSIONS: The replacement of ancrod+/-coumarin, or coumarin alone, by danaparoid (+/-coumarin) in the mid-1990s for the treatment of HIT was justified by improved efficacy and safety.
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| 27. |
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| 28. |
- Magnani, N., et al.
(författare)
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Magnetic Polarization of the Americium J=0 Ground State in AmFe2
- 2015
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 114:9
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Tidskriftsartikel (refereegranskat)abstract
- Trivalent americium has a nonmagnetic (J = 0) ground state arising from the cancellation of the orbital and spin moments. However, magnetism can be induced by a large molecular field if Am3+ is embedded in a ferromagnetic matrix. Using the technique of x-ray magnetic circular dichroism, we show that this is the case in AmFe2. Since < J(z)> = 0, the spin component is exactly twice as large as the orbital one, the total Am moment is opposite to that of Fe, and the magnetic dipole operator < T-z > can be determined directly; we discuss the progression of the latter across the actinide series.
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| 29. |
- Maldonado, Pablo, et al.
(författare)
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Crystal dynamics and thermal properties of neptunium dioxide
- 2016
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Ingår i: PHYSICAL REVIEW B. - 2469-9950. ; 93:14
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Tidskriftsartikel (refereegranskat)abstract
- We report an experimental and theoretical investigation of the lattice dynamics and thermal properties of the actinide dioxide NpO2. The energy-wave-vector dispersion relation for normal modes of vibration propagating along the [001], [110], and [111] high-symmetry lines in NpO2 at room temperature has been determined by measuring the coherent one-phonon scattering of x rays from an similar to 1.2-mg single-crystal specimen, the largest available single crystal for this compound. The results are compared against ab initio phonon dispersions computed within the first-principles density functional theory in the generalized gradient approximation plus Hubbard U correlation (GGA+U) approach, taking into account third-order anharmonicity effects in the quasiharmonic approximation. Good agreement with the experiment is obtained for calculations with an on-site Coulomb parameter U = 4 eV and Hund's exchange J = 0.6 eV in line with previous electronic structure calculations. We further compute the thermal expansion, heat capacity, thermal conductivity, phonon linewidth, and thermal phonon softening, and compare with available experiments. The theoretical and measured heat capacities are in close agreement with another. About 27% of the calculated thermal conductivity is due to phonons with energy higher than 25 meV (similar to 6 THz), suggesting an important role of high-energy optical phonons in the heat transport. The simulated thermal expansion reproduces well the experimental data up to about 1000 K, indicating a failure of the quasiharmonic approximation above this limit.
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| 30. |
- Monaci, Marco, et al.
(författare)
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Shear, writhe, and filaments: Turbulence in the high-latitude molecular cloud MBM 40
- 2023
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Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 676
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Tidskriftsartikel (refereegranskat)abstract
- Context. Given the structural and thermodynamical complexity of the interstellar medium (ISM), the variety of governing processes, such as stellar feedback, poses challenges to the investigation. High-latitude molecular clouds (HLMCs) with no evidence of internal star formation, as in the case of MBM 40, are excellent sites for studying the chemistry and dynamic evolution of the cold neutral ISM. Aims. We used this high-latitude cloud as an exemplar for the dynamical and chemical processes in the diffuse interstellar medium. Methods. We analyzed new and archival 12CO, 13CO, CH, HCO+, CS, H2CO, and HCN data from Five College Radio Observatory (FCRAO), Onsala Space Observatory (OSO), Arizona Radio Observatory (ARO), and W. Gordon telescope (Arecibo) combined with the Galactic Arecibo L-band Feed Array H I (GALFA-HI) H I 21 cm data set, to study the chemistry, thermal state, and dynamics of MBM 40. A new dynamical analytical approach was adopted by considering each line profile as a line-of-sight probability distribution function (PDF) of the turbulence weighted by gas emissivity. Results. The atomic and molecular gas are smoothly distributed in space and velocity. No steep transition is seen between circumcloud atomic and cloud molecular gas in either radial velocity or structure. We propose a topology of the cloud based on molecular tracers, as a contorted filamentary structure that is shaped by a broad embedding shear flow in the neutral atomic gas. A comparative examination of different molecular tracers shows that 13CO, H2CO, and CS only arise from denser molecular cores, whereas 12CO, CH, and HCO+ trace diffuse gas with a broader range of dynamics.
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| 31. |
- Norby, Faye L, et al.
(författare)
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Association of Lipid-Related Genetic Variants with the Incidence of Atrial Fibrillation : The AFGen Consortium
- 2016
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 11:3
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Several studies have shown associations between blood lipid levels and the risk of atrial fibrillation (AF). To test the potential effect of blood lipids with AF risk, we assessed whether previously developed lipid gene scores, used as instrumental variables, are associated with the incidence of AF in 7 large cohorts.METHODS: We analyzed 64,901 individuals of European ancestry without previous AF at baseline and with lipid gene scores. Lipid-specific gene scores, based on loci significantly associated with lipid levels, were calculated. Additionally, non-pleiotropic gene scores for high-density lipoprotein cholesterol (HDLc) and low-density lipoprotein cholesterol (LDLc) were calculated using SNPs that were only associated with the specific lipid fraction. Cox models were used to estimate the hazard ratio (HR) and 95% confidence intervals (CI) of AF per 1-standard deviation (SD) increase of each lipid gene score.RESULTS: During a mean follow-up of 12.0 years, 5434 (8.4%) incident AF cases were identified. After meta-analysis, the HDLc, LDLc, total cholesterol, and triglyceride gene scores were not associated with incidence of AF. Multivariable-adjusted HR (95% CI) were 1.01 (0.98-1.03); 0.98 (0.96-1.01); 0.98 (0.95-1.02); 0.99 (0.97-1.02), respectively. Similarly, non-pleiotropic HDLc and LDLc gene scores showed no association with incident AF: HR (95% CI) = 1.00 (0.97-1.03); 1.01 (0.99-1.04).CONCLUSIONS: In this large cohort study of individuals of European ancestry, gene scores for lipid fractions were not associated with incident AF.
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| 34. |
- Smith, Gustav, et al.
(författare)
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Genome-Wide Association Studies of the PR Interval in African Americans.
- 2011
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 7:2
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Tidskriftsartikel (refereegranskat)abstract
- The PR interval on the electrocardiogram reflects atrial and atrioventricular nodal conduction time. The PR interval is heritable, provides important information about arrhythmia risk, and has been suggested to differ among human races. Genome-wide association (GWA) studies have identified common genetic determinants of the PR interval in individuals of European and Asian ancestry, but there is a general paucity of GWA studies in individuals of African ancestry. We performed GWA studies in African American individuals from four cohorts (n = 6,247) to identify genetic variants associated with PR interval duration. Genotyping was performed using the Affymetrix 6.0 microarray. Imputation was performed for 2.8 million single nucleotide polymorphisms (SNPs) using combined YRI and CEU HapMap phase II panels. We observed a strong signal (rs3922844) within the gene encoding the cardiac sodium channel (SCN5A) with genome-wide significant association (p<2.5×10(-8)) in two of the four cohorts and in the meta-analysis. The signal explained 2% of PR interval variability in African Americans (beta = 5.1 msec per minor allele, 95% CI = 4.1-6.1, p = 3×10(-23)). This SNP was also associated with PR interval (beta = 2.4 msec per minor allele, 95% CI = 1.8-3.0, p = 3×10(-16)) in individuals of European ancestry (n = 14,042), but with a smaller effect size (p for heterogeneity <0.001) and variability explained (0.5%). Further meta-analysis of the four cohorts identified genome-wide significant associations with SNPs in SCN10A (rs6798015), MEIS1 (rs10865355), and TBX5 (rs7312625) that were highly correlated with SNPs identified in European and Asian GWA studies. African ancestry was associated with increased PR duration (13.3 msec, p = 0.009) in one but not the other three cohorts. Our findings demonstrate the relevance of common variants to African Americans at four loci previously associated with PR interval in European and Asian samples and identify an association signal at one of these loci that is more strongly associated with PR interval in African Americans than in Europeans.
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| 35. |
- Smith, Gustav, et al.
(författare)
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The Impact of Ancestry and Common Genetic Variants on QT Interval in African Americans.
- 2012
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Ingår i: Circulation: Cardiovascular Genetics. - 1942-325X. ; 5:6, s. 647-655
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: -Ethnic differences in cardiac arrhythmia incidence have been reported, with a particularly high incidence of sudden cardiac death (SCD) and low incidence of atrial fibrillation in individuals of African ancestry. We tested the hypotheses that African ancestry and common genetic variants are associated with prolonged duration of cardiac repolarization, a central pathophysiological determinant of arrhythmia, as measured by the electrocardiographic QT interval. METHODS AND RESULTS: -First, individual estimates of African and European ancestry were inferred from genome-wide single nucleotide polymorphism (SNP) data in seven population-based cohorts of African Americans (n=12 097) and regressed on measured QT interval from electrocardiograms. Second, imputation was performed for 2.8 million SNPs and a genome-wide association (GWA) study of QT interval performed in ten cohorts (n=13 105). There was no evidence of association between genetic ancestry and QT interval (p=0.94). Genome-wide significant associations (p<2.5x10(-8)) were identified with SNPs at two loci, upstream of the genes NOS1AP (rs12143842, p=2x10(-15)) and ATP1B1 (rs1320976, p=2x10(-10)). The most significant SNP in NOS1AP was the same as the strongest SNP previously associated with QT interval in individuals of European ancestry. Low p-values (p<10(-5)) were observed for SNPs at several other loci previously identified in GWA studies in individuals of European ancestry, including KCNQ1, KCNH2, LITAF and PLN. CONCLUSIONS: -We observed no difference in duration of cardiac repolarization with global genetic indices of African ancestry. In addition, our GWA study extends the association of polymorphisms at several loci associated with repolarization in individuals of European ancestry to include African Americans.
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| 36. |
- Suzuki, M. -T, et al.
(författare)
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First-principles theory of multipolar order in neptunium dioxide
- 2010
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 82:24, s. 241103-
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Tidskriftsartikel (refereegranskat)abstract
- We provide a first-principles, materials-specific theory of multipolar order and superexchange in NpO2 by means of a noncollinear local-density approximation +U (LDA + U) method. Our calculations offer a precise microscopic description of the triple-q antiferro ordered phase in the absence of any dipolar moment. We find that, while the most common nondipolar degrees of freedom (e.g., electric quadrupoles and magnetic octupoles) are active in the ordered phase, both the usually neglected higher-order multipoles (electric hexadecapoles and magnetic triakontadipoles) have at least an equally significant effect.
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| 37. |
- Suzuki, Michi-To, et al.
(författare)
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Microscopic theory of the insulating electronic ground states of the actinide dioxides AnO(2) (An= U, Np, Pu, Am, and Cm)
- 2013
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 88:19, s. 195146-
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Tidskriftsartikel (refereegranskat)abstract
- The electronic states of the actinide dioxides AnO(2) (with An= U, Np, Pu, Am, and Cm) are investigated employing first-principles calculations within the framework of the local density approximation + U(LDA + U) approach, implemented in a full-potential linearized augmented plane-wave scheme. A systematic analysis of the An-5f states is performed which provides intuitive connections between the electronic structures and the local crystalline fields of the f states in the AnO(2) series. Particularly the mechanisms leading to the experimentally observed insulating ground states are investigated. These are found to be caused by the strong spin-orbit and Coulomb interactions of the 5f orbitals; however, as a result of the different configurations, thismechanismworks in distinctly different ways for each of the AnO(2) compounds. In agreement with experimental observations, the nonmagnetic states of plutonium and curium dioxide are computed to be insulating, whereas those of uranium, neptunium, and americium dioxides require additional symmetry breaking to reproduce the insulator ground states, a condition which is met with magnetic phase transitions. We show that the occupancy of the An-f orbitals is closely connected to each of the appearing insulating mechanisms. We furthermore investigate the detailed constitution of the noncollinear multipolar moments for transverse 3q magnetic ordered states in UO2 and longitudinal 3q high-rank multipolar ordered states in NpO2 and AmO2.
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| 38. |
- Wade, C. M., et al.
(författare)
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Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 326:5954, s. 865-867
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Tidskriftsartikel (refereegranskat)abstract
- We report a high-quality draft sequence of the genome of the horse ( Equus caballus). The genome is relatively repetitive but has little segmental duplication. Chromosomes appear to have undergone few historical rearrangements: 53% of equine chromosomes show conserved synteny to a single human chromosome. Equine chromosome 11 is shown to have an evolutionary new centromere devoid of centromeric satellite DNA, suggesting that centromeric function may arise before satellite repeat accumulation. Linkage disequilibrium, showing the influences of early domestication of large herds of female horses, is intermediate in length between dog and human, and there is long-range haplotype sharing among breeds.
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