21 research outputs found

    Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

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    Aims/hypothesis: Type 2 diabetes is a growing global public health challenge. Investigating quantitative traits, including fasting glucose, fasting insulin and HbA1c, that serve as early markers of type 2 diabetes progression may lead to a deeper understanding of the genetic aetiology of type 2 diabetes development. Previous genome-wide association studies (GWAS) have identified over 500 loci associated with type 2 diabetes, glycaemic traits and insulin-related traits. However, most of these findings were based only on populations of European ancestry. To address this research gap, we examined the genetic basis of fasting glucose, fasting insulin and HbA1c in participants of the diverse Population Architecture using Genomics and Epidemiology (PAGE) Study. Methods: We conducted a GWAS of fasting glucose (n = 52,267), fasting insulin (n = 48,395) and HbA1c (n = 23,357) in participants without diabetes from the diverse PAGE Study (23% self-reported African American, 46% Hispanic/Latino, 40% European, 4% Asian, 3% Native Hawaiian, 0.8% Native American), performing transethnic and population-specific GWAS meta-analyses, followed by fine-mapping to identify and characterise novel loci and independent secondary signals in known loci. Results: Four novel associations were identified (p < 5 × 10−9), including three loci associated with fasting insulin, and a novel, low-frequency African American-specific locus associated with fasting glucose. Additionally, seven secondary signals were identified, including novel independent secondary signals for fasting glucose at the known GCK locus and for fasting insulin at the known PPP1R3B locus in transethnic meta-analysis. Conclusions/interpretation: Our findings provide new insights into the genetic architecture of glycaemic traits and highlight the continued importance of conducting genetic studies in diverse populations. Data availability: Full summary statistics from each of the population-specific and transethnic results are available at NHGRI-EBI GWAS catalog (https://www.ebi.ac.uk/gwas/downloads/summary-statistics)

    First measurement of the circular beam asymmetry in the gamma p --> pi0 eta p reaction

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    The circular photon asymmetry for pi0 eta photoproduction on the proton was measured for the first time at the tagged photon facility of the MAMI C accelerator using the Crystal Ball/TAPS photon spectrometer. The experimental results are interpreted within a phenomenological isobar model that confirms the dominant role of the Delta(1700)D33 resonance. The measured asymmetry allows us to identify small contributions from positive-parity resonances via interference terms with the dominant D33 amplitude.Comment: 11 pages, 3 figures, submitted to Phys.Lett.

    A total evidence analysis of the phylogeny of hatchet-faced treefrogs (Anura: Hylidae: Sphaenorhynchus)

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    The Neotropical hylid genus Sphaenorhynchus includes 15 species of small, greenish treefrogs widespread in the Amazon and Orinoco basins, and in the Atlantic Forest of Brazil. Although some studies have addressed the phylogenetic relationships of the genus with other hylids using a few exemplar species, its internal relationships remain poorly understood. In order to test its monophyly and the relationships among its species, we performed a total evidence phylogenetic analysis of sequences of three mitochondrial and three nuclear genes, and 193 phenotypic characters from all species of Sphaenorhynchus. Our results support the monophyly of Sphaenorhynchus with molecular and phenotypic evidence, with S. pauloalvini as the earliest diverging taxon, followed by S. carneus, as the sister taxon of all remaining species of the genus. We recognize three species groups in Sphaenorhynchus (the S. lacteus, S. planicola and S. platycephalus groups), to facilitate its taxonomic study; only three species (S. carneus, S. pauloalvini and S. prasinus) remain unassigned to any group. Sequence data were not available for only two species (S. bromelicola and S. palustris) for which we scored phenotypic data; wildcard behaviour was detected only in S. bromelicola nested inside the S. platycephalus group. On the basis of the resulting phylogenetic hypothesis, we discuss the evolution of oviposition site and a number of phenotypic characters that could be associated with heterochronic events in the evolutionary history of this group.Fil: de Araujo Vieira, Katyuscia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; ArgentinaFil: Blotto Acuña, Boris Leonardo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina. Universidade de Sao Paulo; BrasilFil: Confalonieri, Ulisses. Universidade Federal do Rio de Janeiro; BrasilFil: Baptista Haddad, Célio Fernando. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Faivovich, Julián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Biodiversidad y Biología Experimental; ArgentinaFil: Grant, Taran. Universidade de Sao Paulo; Brasi

    Search for the charge-conjugation-forbidden decay ω→ηπ<sup>0</sup>

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    A new upper limit of 2.3×10&lt;sup&gt;−4&lt;/sup&gt; on the branching ratio of the decay ω→ηπ&lt;sup&gt;0&lt;/sup&gt; has been obtained using the Crystal Ball multiphoton spectrometer at the Mainz Microtron MAMI. This decay is forbidden by charge-conjugation invariance of the strong and electromagnetic interactions. We have also obtained the upper limit of 2.3×10&lt;sup&gt;−4&lt;/sup&gt; for the forbidden decay ω→3π&lt;sup&gt;0&lt;/sup&gt; and the upper limit of 2.4×10&lt;sup&gt;−4&lt;/sup&gt; for ω→2π&lt;sup&gt;0&lt;/sup&gt;

    Coherent photoproduction of η-mesons off <sup>3</sup>He – search for η-mesic nuclei

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    Coherent photoproduction of η-mesons off 3He, i.e. the reaction γ3He→η3He, has been investigated in the near-threshold region. The experiment was performed at the Glasgow tagged photon facility of the Mainz MAMI accelerator with the combined Crystal Ball – TAPS detector. Angular distributions and the total cross section were measured using the η→γγ and η→3π0→6γ decay channels. The observed extremely sharp rise of the cross section at threshold and the behavior of the angular distributions are evidence for a strong η3He final state interaction, pointing to the existence of a resonant state. The search for further evidence of this state in the excitation function of π0-proton back-to-back emission in the γ3He→π0pX reaction revealed a very complicated structure of the background and could not support previous conclusions
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