Year of publication
- Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits (2013)
- Men and women differ substantially regarding height, weight, and body fat. Interestingly, previous work detecting genetic effects for waist-to-hip ratio, to assess body fat distribution, has found that many of these showed sex-differences. However, systematic searches for sex-differences in genetic effects have not yet been conducted. Therefore, we undertook a genome-wide search for sexually dimorphic genetic effects for anthropometric traits including 133,723 individuals in a large meta-analysis and followed promising variants in further 137,052 individuals, including a total of 94 studies. We identified seven loci with significant sex-difference including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA, ADAMTS9) and three novel anthropometric trait loci (near MAP3K1, HSD17B4, PPARG), all of which were significant in women, but not in men. Of interest is that sex-difference was only observed for waist phenotypes, but not for height or body-mass-index. We found no evidence for sex-differences with opposite effect direction for men and women. The PPARG locus is of specific interest due to its link to diabetes genetics and therapy. Our findings demonstrate the importance of investigating sex differences, which may lead to a better understanding of disease mechanisms with a potential relevance to treatment options.
- Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014)
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10−6) and 14 (IGHV1-67 p = 7.9×10−8) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
- Energy dependence of multi-pion production in high-energy nucleus-nucleus collisions (1980)
- Exclusive pi - and charged-particle production in collisions of Ar+KCl is studied at incident energies from 0.4 to 1.8 GeV/u. Complete disintegration of both nuclei is observed. The correlation between pi - and total charge multiplicity shows no islands of anomalous pion production. For constant numbers of proton participants the pi - multiplicity distributions are Poissons. For central collisions <n pi -> increases smoothly and to first order linearly with the c.m. energy. Disagreement with the firestreak model is found. Pacs numbers: 25.70.Hi, 24.10.Dp
- Ozone loss derived from balloon-borne tracer measurements in the 1999/2000 Arctic winter (2005)
- Balloon-borne measurements of CFC11 (from the DIRAC in situ gas chromatograph and the DESCARTES grab sampler), ClO and O3 were made during the 1999/2000 Arctic winter as part of the SOLVE-THESEO 2000 campaign, based in Kiruna (Sweden). Here we present the CFC11 data from nine flights and compare them first with data from other instruments which flew during the campaign and then with the vertical distributions calculated by the SLIMCAT 3D CTM. We calculate ozone loss inside the Arctic vortex between late January and early March using the relation between CFC11 and O3 measured on the flights. The peak ozone loss (~1200ppbv) occurs in the 440-470K region in early March in reasonable agreement with other published empirical estimates. There is also a good agreement between ozone losses derived from three balloon tracer data sets used here. The magnitude and vertical distribution of the loss derived from the measurements is in good agreement with the loss calculated from SLIMCAT over Kiruna for the same days.
- Ozone loss derived from balloon-borne tracer measurements and the SLIMCAT CTM (2004)
- Balloon-borne measurements of CFC-11 (on flights of the DIRAC in situ gas chromatograph and the DESCARTES grab sampler), ClO and O3 were made during the 1999/2000 winter as part of the SOLVE-THESEO 2000 campaign. Here we present the CFC-11 data from nine flights and compare them first with data from other instruments which flew during the campaign and then with the vertical distributions calculated by the SLIMCAT 3-D CTM. We calculate ozone loss inside the Arctic vortex between late January and early March using the relation between CFC-11 and O3 measured on the flights, the peak ozone loss (1200 ppbv) occurs in the 440–470 K region in early March in reasonable agreement with other published empirical estimates. There is also a good agreement between ozone losses derived from three independent balloon tracer data sets used here. The magnitude and vertical distribution of the loss derived from the measurements is in good agreement with the loss calculated from SLIMCAT over Kiruna for the same days.
- Collective motion in nucleus-nucleus collisions at 800 MeV/nucleon (1988)
- Semicentral Ar+KCl, La+La, and Ar+Pb collisions at 800 MeV/nucleon were studied using a streamer chamber. The results are analyzed in the framework of the transverse momentum analysis and in terms of the average sphericity matrix. A critical examination of the analysis procedures, both experimental and theoretical, is given. New procedures are described to account for overall momentum conservation in the reaction, and to correct for azimuthal variations in the detection efficiency. Average transverse momenta per nucleon in the reaction plane are presented for deuterons emitted in the forward hemisphere, as these provide the most reliable information. A Vlasov-Uehling-Uhlenbeck calculation with a stiff equation of state gives a good fit to the momenta in the Ar+Pb reaction. Flow effects parametrized further using the sphericity tensor are found stronger than in the cascade model and consistently weaker than predicted by hydrodynamics. Parameters from the sphericity tensor exhibit a larger variation as a function of multiplicity than do the average momenta per nucleon.
- Pion and proton "temperatures" in relativistic heavy-ion reactions (1984)
- Pion and proton production are measured to investigate thermal equilibrium in central collisions of 40Ar+KCl at 1.8 GeV/nucleon. The bulk of the pion yield is isotropic in the c.m. system, with an apparent temperature of 58±3 MeV, much lower than the 118±2 MeV of the protons. It is shown that the low pion "temperature" can be explained by the decay kinematics of delta resonances in thermal equilibrium. A (5±1)% component in the pion spectrum is, however, found to have a temperature of 110±10 MeV. The effect on the spectra of possible contributions from collective radial flow is discussed.
- Stopping power and collective flow of nuclear matter in the reaction Ar+Pb at 0.8 GeV/u (1983)
- Charged-particle exclusive data for Ar+Pb collisions at 0.772 GeV/u are analyzed in terms of collective variables for the event shapes in momentum space. Semicentral collisions lead to sidewards flow whereas nearly head-on collisions have spherical shapes in the c.m. frame, resulting from complete stopping of projectile motion. The hydrodynamical model predictions agree qualitatively with the data whereas the standard cascade model disagrees, lacking in stopping power and collective flow.
- Lambda production near threshold in central nucleus-nucleus collisions (1981)
- Lambda 's produced in central collisions of 40Ar+KC1 at 1.8-GeV/u incident energy were detected in a streamer chamber by their charged-particle decay. For central collisions with impact parameters b<2.4 fm the Lambda production cross section is 7.6±2.2 mb. A calculation in which Lambda production occurs in the early stage of the collision qualitatively reproduces the results but underestimates the transverse momenta. An average Lambda polarization of -0.10±0.05 is observed. PACS numbers: 25.70 Bc