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1.
  • Adare, A., et al. (author)
  • Direct photon production in d+Au collisions at root s(NN)=200 GeV
  • 2013
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 87:5
  • Journal article (peer-reviewed)abstract
    • Direct photons have been measured in root s(NN) = 200 GeV d + Au collisions at midrapidity. A wide p(T) range is covered by measurements of nearly real virtual photons (1 < p(T) < 6 GeV/c) and real photons (5 < p(T) < 16 GeV/c). The invariant yield of the direct photons in d + Au collisions over the scaled p + p cross section is consistent with unity. Theoretical calculations assuming standard cold-nuclear-matter effects describe the data well for the entire p(T) range. This indicates that the large enhancement of direct photons observed in Au + Au collisions for 1.0 < p(T) < 2.5 GeV/c is attributable to a source other than the initial-state nuclear effects.
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2.
  • Adare, A., et al. (author)
  • Charged hadron multiplicity fluctuations in Au plus Au and Cu plus Cu collisions from s(NN)=22.5 to 200 GeV
  • 2008
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 78:4
  • Journal article (peer-reviewed)abstract
    • A comprehensive survey of event-by-event fluctuations of charged hadron multiplicity in relativistic heavy ions is presented. The survey covers Au+Au collisions at s(NN)=62.4 and 200 GeV, and Cu+Cu collisions at s(NN)=22.5,62.4, and 200 GeV. Fluctuations are measured as a function of collision centrality, transverse momentum range, and charge sign. After correcting for nondynamical fluctuations due to fluctuations in the collision geometry within a centrality bin, the remaining dynamical fluctuations expressed as the variance normalized by the mean tend to decrease with increasing centrality. The dynamical fluctuations are consistent with or below the expectation from a superposition of participant nucleon-nucleon collisions based upon p+p data, indicating that this dataset does not exhibit evidence of critical behavior in terms of the compressibility of the system. A comparison of the data with a model where hadrons are independently emitted from a number of hadron clusters suggests that the mean number of hadrons per cluster is small in heavy ion collisions.
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3.
  • Adare, A., et al. (author)
  • Cold nuclear matter effects on J/psi production as constrained by deuteron-gold measurements at root S-NN=200 GeV
  • 2008
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 77:2, s. 15-024912
  • Journal article (peer-reviewed)abstract
    • We present a new analysis of J/psi production yields in deuteron-gold collisions at root s(NN) =200 GeV using data taken from the PHENIX experiment in 2003 and previously published in S. S. Adler [Phys. Rev. Lett 96, 012304 (2006)]. The high statistics proton-proton J/psi data taken in 2005 are used to improve the baseline measurement and thus construct updated cold nuclear matter modification factors (R-dAu). A suppression of J/psi in cold nuclear matter is observed as one goes forward in rapidity (in the deuteron-going direction), corresponding to a region more sensitive to initial-state low-x gluons in the gold nucleus. The measured nuclear modification factors are compared to theoretical calculations of nuclear shadowing to which a J/psi (or precursor) breakup cross section is added. Breakup cross sections of sigma(breakup)=2.8(-1.4)(+1.7) (2.2(-1.5)(+1.6)) mb are obtained by fitting these calculations to the data using two different models of nuclear shadowing. These breakup cross-section values are consistent within large uncertainties with the 4.2 +/- 0.5 mb determined at lower collision energies. Projecting this range of cold nuclear matter effects to copper-copper and gold-gold collisions reveals that the current constraints are not sufficient to firmly quantify the additional hot nuclear matter effect.
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4.
  • Adare, A., et al. (author)
  • System size and energy dependence of jet-induced hadron pair correlation shapes in Cu+Cu and Au+Au collisions at root S-NN 200 and 62.4 GeV
  • 2007
  • In: Physical Review Letters. - 1079-7114. ; 98:23
  • Journal article (peer-reviewed)abstract
    • We present azimuthal angle correlations of intermediate transverse momentum (1-4 GeV/c) hadrons from dijets in Cu+Cu and Au+Au collisions at root s(NN)=62.4 and 200 GeV. The away-side dijet induced azimuthal correlation is broadened, non-Gaussian, and peaked away from Delta phi=pi in central and semicentral collisions in all the systems. The broadening and peak location are found to depend upon the number of participants in the collision, but not on the collision energy or beam nuclei. These results are consistent with sound or shock wave models, but pose challenges to Cherenkov gluon radiation models.
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5.
  • Adler, S. S., et al. (author)
  • High transverse momentum eta meson production in p+p, d+Au, and Au+Au collisions at root s(NN)=200 GeV
  • 2007
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:2
  • Research review (peer-reviewed)abstract
    • Inclusive transverse momentum spectra of eta mesons in the range p(T)approximate to 2-12 GeV/c have been measured at midrapidity (vertical bar eta vertical bar < 0.35) by the PHENIX experiment at RHIC in p+p,d+Au, and Au+Au collisions at root s(NN)=200 GeV. The eta mesons are reconstructed through their eta ->gamma gamma channel for the three colliding systems as well as through the eta ->pi(0)pi(+)pi(-) decay mode in p+p and d+Au collisions. The nuclear modification factor in d+Au collisions, R-dAu(p(T))approximate to 1.0-1.1, suggests at most only modest p(T) broadening ("Cronin enhancement"). In central Au+Au reactions, the eta yields are significantly suppressed, with R-AuAu(p(T))approximate to 0.2. The ratio of eta to pi(0) yields is approximately constant as a function of p(T) for the three colliding systems in agreement with the high-p(T) world average of R-eta/pi(0)approximate to 0.5 in hadron-hadron, hadron-nucleus, and nucleus-nucleus collisions for a wide range of center-of-mass energies (root sNN approximate to 3-1800 GeV) as well as, for high scaled momentum x(p), in e(+)e(-) annihilations at root s=91.2 GeV. These results are consistent with a scenario where high-p(T) eta production in nuclear collisions at the Relativistic Heavy Ion Collider is largely unaffected by initial-state effects but where light-quark mesons (pi(0),eta) are equally suppressed due to final-state interactions of the parent partons in the dense medium produced in Au+Au reactions.
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6.
  • Adler, S. S., et al. (author)
  • Transverse-energy distributions at midrapidity in p plus p, d plus Au, and Au plus Au collisions at root s(NN)=62.4-200 GeV and implications for particle-production models
  • 2014
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 89:4
  • Journal article (peer-reviewed)abstract
    • Measurements of the midrapidity transverse-energy distribution, dE(T)/d eta, are presented for p + p, d+Au, and Au+Au collisions atv root s(NN) = 200 GeV and additionally for Au+Au collisions atv root s(NN) = 62.4 and 130 GeV. The dE(T)/d eta distributions are first compared with the number of nucleon participants N-part, number of binary collisions N-coll, and number of constituent-quark participants N-qp calculated from a Glauber model based on the nuclear geometry. For Au+Au, < dE(T)/d eta >/N-part increases with N-part, while < dE(T)/d eta >/N-qp is approximately constant for all three energies. This indicates that the two-component ansatz, dE(T)/d eta alpha (1 - x)N-part/2 + xN(coll), which was used to represent E-T distributions, is simply a proxy for N-qp, and that the N-coll term does not represent a hard-scattering component in E-T distributions. The dE(T)/d eta distributions of Au+Au and d+Au are then calculated from the measured p + p E-T distribution using two models that both reproduce the Au+Au data. However, while the number-of-constituent-quark-participant model agrees well with the d+Au data, the additive-quark model does not.
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7.
  • Adler, S. S., et al. (author)
  • Azimuthal angle correlations for rapidity separated hadron pairs in d+Au collisions at root s(NN)=200 GeV
  • 2006
  • In: Physical Review Letters. - 1079-7114. ; 96:22
  • Journal article (peer-reviewed)abstract
    • Deuteron-gold (d+Au) collisions at the Relativistic Heavy Ion Collider provide ideal platforms for testing QCD theories in dense nuclear matter at high energy. In particular, models suggesting strong saturation effects for partons carrying small nucleon momentum fraction (x) predict modifications to jet production at forward rapidity (deuteron-going direction) in d+Au collisions. We report on two-particle azimuthal angle correlations between charged hadrons at forward/backward (deuteron/gold going direction) rapidity and charged hadrons at midrapidity in d+Au and p+p collisions at root s(NN)=200 GeV. Jet structures observed in the correlations are quantified in terms of the conditional yield and angular width of away-side partners. The kinematic region studied here samples partons in the gold nucleus with x similar to 0.1 to similar to 0.01. Within this range, we find no x dependence of the jet structure in d+Au collisions.
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8.
  • Adler, S. S., et al. (author)
  • Centrality dependence of charged hadron production in deuteron plus gold and nucleon plus gold collisions at root S-NN=200 GeV
  • 2008
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 77:1
  • Journal article (peer-reviewed)abstract
    • We present transverse momentum (p(T)) spectra of charged hadrons measured in deuteron-gold and nucleon-gold collisions at root s(NN)=200 GeV for four centrality classes. Nucleon-gold collisions were selected by tagging events in which a spectator nucleon was observed in one of two forward rapidity detectors. The spectra and yields were investigated as a function of the number of binary nucleon-nucleon collisions, nu, suffered by deuteron nucleons. A comparison of charged particle yields to those in p+p collisions show that yield per nucleon-nucleon collision saturates with nu for high momentum particles. We also present the charged hadron to neutral pion ratios as a function of p(T).
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9.
  • Adler, S. S., et al. (author)
  • Centrality dependence of pi(0) and eta production at large transverse momentum in root s(NN) = 200 GeV d+Au collisions
  • 2007
  • In: Physical Review Letters. - 1079-7114. ; 98:17
  • Journal article (peer-reviewed)abstract
    • The dependence of transverse momentum spectra of neutral pions and eta mesons with p(T) < 16 GeV/c and p(T) < 12 GeV/c, respectively, on the centrality of the collision has been measured at midrapidity by the PHENIX experiment at the BNL Relativistic Heavy Ion Collider (RHIC) in d + Au collisions at root s(NN) = 200 GeV. The measured yields are compared to those in p + p collisions at the same root s(NN) scaled by the number of underlying nucleon-nucleon collisions in d + Au. At all centralities, the yield ratios show no suppression, in contrast to the strong suppression seen for central An + Au collisions at RHIC. Only a weak p(T) and centrality dependence can be observed.
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10.
  • Adler, S. S., et al. (author)
  • Jet properties from dihadron correlations in p plus p collisions at root s=200 GeV
  • 2006
  • In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 74:7
  • Journal article (peer-reviewed)abstract
    • The properties of jets produced in p+p collisions at root s=200 GeV are measured using the method of two-particle correlations. The trigger particle is a leading particle from a large transverse momentum jet while the associated particle comes from either the same jet or the away-side jet. Analysis of the angular width of the near-side peak in the correlation function determines the jet-fragmentation transverse momentum j(T). The extracted value, root < j(T)(2)>=585 +/- 6(stat)+/- 15(sys) MeV/c, is constant with respect to the trigger particle transverse momentum, and comparable to the previous lower root s measurements. The width of the away-side peak is shown to be a convolution of j(T) with the fragmentation variable, z, and the partonic transverse momentum, k(T). The < z > is determined through a combined analysis of the measured pi(0) inclusive and associated spectra using jet-fragmentation functions measured in e(+)e(-) collisions. The final extracted values of k(T) are then determined to also be independent of the trigger particle transverse momentum, over the range measured, with value of root < k(T)(2)>=2.68 +/- 0.07(stat)+/- 0.34(sys) GeV/c.
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11.
  • Adler, S. S., et al. (author)
  • Jet structure from dihadron correlations in d+Au collisions at root S-NN=200 GeV
  • 2006
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 73:5
  • Journal article (peer-reviewed)abstract
    • Dihadron correlations at high transverse momentum p(T) in d+Au collisions at root s(NN)=200 GeV at midrapidity are measured by the PHENIX experiment at the Relativistic Heavy Ion Collider. From these correlations, we extract several structural characteristics of jets: the root-mean-squared transverse momentum of fragmenting hadrons with respect to the jet root < j(T)(2)>, the mean sine-squared of the azimuthal angle between the jet axes < sin(2)phi(jj)>, and the number of particles produced within the dijet that are associated with a high-p(T) particle (dN/dx(E) distributions). We observe that the fragmentation characteristics of jets in d+Au collisions are very similar to those in p+p collisions and that there is little dependence on the centrality of the d+Au collision. This is consistent with the nuclear medium having little influence on the fragmentation process. Furthermore, there is no statistically significant increase in the value of < sin(2)phi(jj)> from p+p to d+Au collisions. This constrains the effect of multiple scattering that partons undergo in the cold nuclear medium before and after a hard collision.
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12.
  • Adler, S. S., et al. (author)
  • Measurement of direct photon production in p+p collisions at root s=200 GeV
  • 2007
  • In: Physical Review Letters. - 1079-7114. ; 98:1
  • Journal article (peer-reviewed)abstract
    • Cross sections for midrapidity production of direct photons in p+p collisions at the Relativistic Heavy Ion Collider (RHIC) are reported for transverse momenta of 3 < p(T)< 16 GeV/c. Next-to-leading order perturbative QCD (pQCD) describes the data well for p(T)> 5 GeV/c, where the uncertainties of the measurement and theory are comparable. We also report on the effect of requiring the photons to be isolated from parton jet energy. The observed fraction of isolated photons is well described by pQCD for p(T)> 7 GeV/c.
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13.
  • Adler, S. S., et al. (author)
  • Nuclear effects on hadron production in d plus Au collisions at root S-NN=200 GeV revealed by comparison with p plus p data
  • 2006
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 74:2
  • Journal article (peer-reviewed)abstract
    • PHENIX has measured the centrality dependence of midrapidity pion, kaon, and proton transverse momentum distributions in d+Au and p+p collisions at root s(NN) = 200 GeV. The p+p data provide a reference for nuclear effects in d+Au and previously measured Au+Au collisions. Hadron production is enhanced in d+Au, relative to independent nucleon-nucleon scattering, as was observed in lower energy collisions. The nuclear modification factor for (anti)protons is larger than that for pions. The difference increases with centrality but is not sufficient to account for the abundance of baryon production observed in central Au+Au collisions at the BNL Relativistic Heavy Ion Collider (RHIC). The centrality dependence in d+Au shows that the nuclear modification factor increases gradually with the number of collisions encountered by each participant nucleon. We also present comparisons with lower energy data as well as with parton recombination and other theoretical models of nuclear effects on particle production.
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14.
  • Adler, S. S., et al. (author)
  • Production of omega mesons at large transverse momenta in p+p and d+Au collisions at root S(NN) = 200 GeV
  • 2007
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:5
  • Journal article (peer-reviewed)abstract
    • The PHENIX experiment at RHIC has measured the invariant cross section for omega-meson production at midrapidity in the transverse momentum range 2.5 < p(T)< 9.25 GeV/c in p+p and d+Au collisions at root s(NN) = 200 GeV. Measurements in two decay channels (omega ->pi(0)pi(+)pi(-) and omega ->pi(0)gamma) yield consistent results, and the reconstructed omega mass agrees with the accepted value within the p(T) range of the measurements. The omega/pi(0) ratio is found to be 0.85 +/- 0.05(stat)+/- 0.09(sys) in p+p and 0.94 +/- 0.08(stat)+/- 0.12(sys) in d+Au collisions, independent of p(T). The nuclear modification factor R-dA(omega) is 1.03 +/- 0.12(stat)+/- 0.21(sys) and 0.83 +/- 0.21(stat)+/- 0.17(sys) in minimum bias and central (0-20%) d+Au collisions, respectively.
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15.
  • Adcox, K, et al. (author)
  • Formation of dense partonic matter in relativistic nucleus-nucleus collisions at RHIC: Experimental evaluation by the PHENIX Collaboration
  • 2005
  • In: Nuclear Physics, Section A. - : Elsevier BV. - 0375-9474. ; 757:1-2, s. 184-283
  • Research review (peer-reviewed)abstract
    • Extensive experimental data from high-energy nucleus-nucleus collisions were recorded using the PHENIX detector at the Relativistic Heavy Ion Collider (RHIC). The comprehensive set of measurements from the first three years of RHIC operation includes charged particle multiplicities, transverse energy, yield ratios and spectra of identified hadrons in a wide range of transverse momenta (PT), elliptic flow, two-particle correlations, nonstatistical fluctuations, and suppression of particle production at high PT. The results are examined with an emphasis on implications for the formation of a new state of dense matter. We find that the state of matter created at RHIC cannot be described in terms of ordinary color neutral hadrons.
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16.
  • Adler, SS, et al. (author)
  • Improved measurement of double helicity asymmetry in inclulsive midrapidity pi(0) production for polarized p+p collisions at root s=200 GeV
  • 2006
  • In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 73:9
  • Journal article (peer-reviewed)abstract
    • We present an improved measurement of the double helicity asymmetry for pi(0) production in polarized proton-proton scattering at root s=200 GeV employing the PHENIX detector at the Relativistic Heavy Ion Collider (RHIC). The improvements to our previous measurement come from two main factors: Inclusion of a new data set from the 2004 RHIC run with higher beam polarizations than the earlier run and a recalibration of the beam polarization measurements for the earlier run, which resulted in reduced uncertainties and increased beam polarizations. The results are compared to a Next to Leading Order (NLO) perturbative Quantum Chromodynamics (pQCD) calculation with a range of polarized gluon distributions.
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17.
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18.
  • Mahajan, Anubha, et al. (author)
  • Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
  • 2022
  • In: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:5, s. 560-572
  • Journal article (peer-reviewed)abstract
    • We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 x 10(-9)), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background. Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.
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19.
  • Adler, SS, et al. (author)
  • Double helicity asymmetry in inclusive midrapidity pi(0) production for polarized p+p collisions at root s=200 GeV
  • 2004
  • In: Physical Review Letters. - 1079-7114. ; 93:20: 202002
  • Journal article (peer-reviewed)abstract
    • We present a measurement of the double longitudinal spin asymmetry in inclusive pi(0) production in polarized proton-proton collisions at roots=200 GeV. The data were taken at the Relativistic Heavy Ion Collider with average beam polarizations of 0.27. The measurements are the first in a program to study the longitudinal spin structure of the proton, using strongly interacting probes, at collider energies. The asymmetry is presented for transverse momenta 1-5 GeV/c at midrapidity, where next-to-leading-order perturbative quantum chromodynamic (NLO pQCD) calculations well describe the unpolarized cross section. The observed asymmetry is small and is compared to a NLO pQCD calculation with a range of polarized gluon distributions.
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20.
  • Kato, Norihiro, et al. (author)
  • Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation
  • 2015
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 47:11, s. 1282-1293
  • Journal article (peer-reviewed)abstract
    • We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 × 10−11 to 5.0 × 10−21). The sentinel blood pressure SNPs are enriched for association with DNA methylation at multiple nearby CpG sites, suggesting that, at some of the loci identified, DNA methylation may lie on the regulatory pathway linking sequence variation to blood pressure. The sentinel SNPs at the 12 new loci point to genes involved in vascular smooth muscle (IGFBP3, KCNK3, PDE3A and PRDM6) and renal (ARHGAP24, OSR1, SLC22A7 and TBX2) function. The new and known genetic variants predict increased left ventricular mass, circulating levels of NT-proBNP, and cardiovascular and all-cause mortality (P = 0.04 to 8.6 × 10−6). Our results provide new evidence for the role of DNA methylation in blood pressure regulation.
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21.
  • Wheeler, Eleanor, et al. (author)
  • Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations : A transethnic genome-wide meta-analysis
  • 2017
  • In: PLoS Medicine. - : PUBLIC LIBRARY SCIENCE. - 1549-1277 .- 1549-1676. ; 14:9
  • Journal article (peer-reviewed)abstract
    • Background: Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and assess glycemic control in patients with diabetes. Previous genome-wide association studies (GWAS) have identified 18 HbA1c-associated genetic variants. These variants proved to be classifiable by their likely biological action as erythrocytic (also associated with erythrocyte traits) or glycemic (associated with other glucose-related traits). In this study, we tested the hypotheses that, in a very large scale GWAS, we would identify more genetic variants associated with HbA1c and that HbA1c variants implicated in erythrocytic biology would affect the diagnostic accuracy of HbA1c. We therefore expanded the number of HbA1c-associated loci and tested the effect of genetic risk-scores comprised of erythrocytic or glycemic variants on incident diabetes prediction and on prevalent diabetes screening performance. Throughout this multiancestry study, we kept a focus on interancestry differences in HbA1c genetics performance that might influence race-ancestry differences in health outcomes.Methods & findings: Using genome-wide association meta-analyses in up to 159,940 individuals from 82 cohorts of European, African, East Asian, and South Asian ancestry, we identified 60 common genetic variants associated with HbA1c. We classified variants as implicated in glycemic, erythrocytic, or unclassified biology and tested whether additive genetic scores of erythrocytic variants (GS-E) or glycemic variants (GS-G) were associated with higher T2D incidence in multiethnic longitudinal cohorts (N = 33,241). Nineteen glycemic and 22 erythrocytic variants were associated with HbA1c at genome-wide significance. GS-G was associated with higher T2D risk (incidence OR = 1.05, 95% CI 1.04-1.06, per HbA1c-raising allele, p = 3 x 10-29); whereas GS-E was not (OR = 1.00, 95% CI 0.99-1.01, p = 0.60). In Europeans and Asians, erythrocytic variants in aggregate had only modest effects on the diagnostic accuracy of HbA1c. Yet, in African Americans, the X-linked G6PD G202A variant (T-allele frequency 11%) was associated with an absolute decrease in HbA1c of 0.81%-units (95% CI 0.66-0.96) per allele in hemizygous men, and 0.68%-units (95% CI 0.38-0.97) in homozygous women. The G6PD variant may cause approximately 2% (N = 0.65 million, 95% CI0.55-0.74) of African American adults with T2Dto remain undiagnosed when screened with HbA1c. Limitations include the smaller sample sizes for non-European ancestries and the inability to classify approximately one-third of the variants. Further studies in large multiethnic cohorts with HbA1c, glycemic, and erythrocytic traits are required to better determine the biological action of the unclassified variants.Conclusions: As G6PD deficiency can be clinically silent until illness strikes, we recommend investigation of the possible benefits of screening for the G6PD genotype along with using HbA1c to diagnose T2D in populations of African ancestry or groups where G6PD deficiency is common. Screening with direct glucose measurements, or genetically-informed HbA1c diagnostic thresholds in people with G6PD deficiency, may be required to avoid missed or delayed diagnoses.
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22.
  • Bowman, John L, et al. (author)
  • Insights into Land Plant Evolution Garnered from the Marchantia polymorpha Genome
  • 2017
  • In: Cell. - : Elsevier BV. - 0092-8674 .- 1097-4172. ; 171:2, s. 287-304.15
  • Journal article (peer-reviewed)abstract
    • The evolution of land flora transformed the terrestrial environment. Land plants evolved from an ancestral charophycean alga from which they inherited developmental, biochemical, and cell biological attributes. Additional biochemical and physiological adaptations to land, and a life cycle with an alternation between multicellular haploid and diploid generations that facilitated efficient dispersal of desiccation tolerant spores, evolved in the ancestral land plant. We analyzed the genome of the liverwort Marchantia polymorpha, a member of a basal land plant lineage. Relative to charophycean algae, land plant genomes are characterized by genes encoding novel biochemical pathways, new phytohormone signaling pathways (notably auxin), expanded repertoires of signaling pathways, and increased diversity in some transcription factor families. Compared with other sequenced land plants, M. polymorpha exhibits low genetic redundancy in most regulatory pathways, with this portion of its genome resembling that predicted for the ancestral land plant. PAPERCLIP.
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23.
  • Gao, H, et al. (author)
  • Genetic variation in CDH13 is associated with lower plasma adiponectin levels but greater adiponectin sensitivity in East Asian populations
  • 2013
  • In: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 62:12, s. 4277-4283
  • Journal article (peer-reviewed)abstract
    • Variants in the CDH13 gene have been identified as determinants of blood levels of adiponectin, an insulin-sensitizing adipokine. However, their association with other metabolic risk factors remains unclear. We examined variants at CDH13 in relation to total and high-molecular-weight (HMW) adiponectin using data from a genome-wide association study performed in 2,434 Singaporean Chinese with replication in up to 3,290 Japanese and 1,610 Koreans. The top signal rs4783244 in CDH13 showed strong associations with total adiponectin (standardized β [β] = −0.34, 95% CI −0.38 to −0.30, P = 2.0 × 10−70), HMW adiponectin (β = −0.40, 95% CI −0.43 to −0.36, P = 1.1 × 10−117), and the HMW-to-total adiponectin ratio (β = −0.44, 95% CI −0.49 to −0.40, P = 3.2 × 10−83). In the replication study, this single nucleotide polymorphism explained 4.1% of total and 6.5% of HMW adiponectin levels. No association was observed between rs4783244 and metabolic traits associated with insulin resistance before adjustment for HMW adiponectin levels. After adjustment for HMW adiponectin levels, the minor allele was associated with lower BMI (β = −0.15, 95% CI −0.19 to −0.11, P = 3.5 × 10−14), homeostasis model assessment-insulin resistance index (β = −0.16, 95% CI −0.20 to −0.12, P = 9.2 × 10−16), and triglycerides (β = −0.16, 95% CI −0.19 to −0.12, P = 1.3 × 10−16) and with higher HDL (β = 0.16, 95% CI 0.12 to 0.19, P = 2.1 × 10−17). CDH13 variants strongly influence plasma total and HMW adiponectin levels in East Asian populations but appear to alter adiponectin sensitivity, resulting in better metabolic health than expected based on circulating adiponectin levels.
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24.
  • Jayathilaka, K. M. D. C., et al. (author)
  • Annealing effects of the untreated and sulfur-treated electrodeposited n-type and p-type cuprous oxide thin films
  • 2016
  • In: Physica status solidi. B, Basic research. - : Wiley. - 0370-1972 .- 1521-3951. ; 253:4, s. 765-769
  • Journal article (peer-reviewed)abstract
    • The n-type and p-type cuprous oxide thin films were electrodeposited potentiostatically in acetate and lactate baths, respectively. Sulfur treatment of n-type and p-type cuprous oxide surfaces were achieved using gaseous (NH4)(2)S. Sulfur-treated Cu2O films were annealed in air at 100, 150, 200, 250, 350, and 450 degrees C for unique times to obtain the best photocurrent. Unannealed and annealed samples of sulfur-treated and untreated cuprous oxide were then investigated using high-energy X-ray diffraction (HEXRD). The HEXRD measurements and the pair distribution function (PDF) analysis revealed that the sulfur treatment leads to the formation of crystalline CuS on Cu2O film surfaces. The present study also shows that the sulfur treatment causes minor structural changes in Cu2O samples due to the formation of CuS. It was observed that the sulfur-treated cuprous oxide samples retarded the formation of CuO at higher temperatures showing good thermal stability and enhancement of the photoactivity of the n-type and p-type cuprous oxides.
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25.
  • Takeuchi, Fumihiko, et al. (author)
  • Interethnic analyses of blood pressure loci in populations of East Asian and European descent
  • 2018
  • In: Nature Communications. - : Springer Nature. - 2041-1723. ; 9:1
  • Journal article (peer-reviewed)abstract
    • Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP (max N = 289,038) principally in East Asians and meta-analysis in East Asians and Europeans. We report 19 new genetic loci and ancestry-specific BP variants, conforming to a common ancestry-specific variant association model. At 10 unique loci, distinct non-rare ancestry-specific variants colocalize within the same linkage disequilibrium block despite the significantly discordant effects for the proxy shared variants between the ethnic groups. The genome-wide transethnic correlation of causal-variant effect-sizes is 0.898 and 0.851 for systolic and diastolic BP, respectively. Some of the ancestry-specific association signals are also influenced by a selective sweep. Our results provide new evidence for the role of common ancestry-specific variants and natural selection in ethnic differences in complex traits such as BP.
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