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Sökning: WFRF:(Pfeiffer Harald P.)

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1.
  • Palmer, Nicholette D, et al. (författare)
  • A genome-wide association search for type 2 diabetes genes in African Americans.
  • 2012
  • Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
  • Tidskriftsartikel (refereegranskat)abstract
    • African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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2.
  • Brege, Wyatt, et al. (författare)
  • Black hole-neutron star mergers using a survey of finite-temperature equations of state
  • 2018
  • Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 98:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Each of the potential signals from a black hole-neutron star merger should contain an imprint of the neutron star equation of state: gravitational waves via its effect on tidal disruption, the kilonova via its effect on the ejecta, and the gamma-ray burst via its effect on the remnant disk. These effects have been studied by numerical simulations and quantified by semianalytic formulas. However, most of the simulations on which these formulas are based use equations of state without finite temperature and composition-dependent nuclear physics. In this paper, we simulate black hole-neutron star mergers varying both the neutron star mass and the equation of state, using three finite-temperature nuclear models of varying stiffness. Our simulations largely vindicate formulas for ejecta properties but do not find the expected dependence of disk mass on neutron star compaction. We track the early evolution of the accretion disk, largely driven by shocking and fallback inflow, and do find notable equation-of-state effects on the structure of this early-time, neutrino-bright disk.
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