16 research outputs found

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

    Latin America Echinoderm Biodiversity and Biogeography: Patterns and Affinities

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    We investigated the current patterns of diversity by country and by class of echinoderms, and analyzed their biogeographical, depth, and habitat or substratum affinities, using the database of the appendix of this book. Traditionally, the area has been divided into five biogeographical Regions and nine Provinces that cover a wide climate range. Currently, the echinoderm fauna of Latin America and Canary islands is constituted by 1,539 species, with 82 species of Crinoidea, 392 species of Asteroidea, 521 species of Ophiuroidea, 242 species of Echinoidea and 302 species of Holothuroidea. Species richness is highly variable among the different countries. The number of species for the countries is highly dependent on its coast length. The echinoderm fauna of the Panamic, Galápagos and the Chilean regions are biogeographically related. Other regions that are closely related are the Caribbean, West Indian, Lusitania and Brazilian. Cosmopolitan species are an important component in all the regions. Affinities between faunas are a consequence of the combination of climatic and trophic factors, connectivity as a function of distance, currents patterns and historical processes. Moreover, different environmental factors would be responsible for the faunal composition and species distribution at different spatial scales. The bathymetrical distribution of the echinoderm classes and the species richness varies according to the depth range and the ocean. Most species occurred at depths between 20 and 200 m. The Caribbean-Atlantic regions are richest in shallow depths, while the Pacific coast has higher values in deeper waters. The domination of each class in each substrate and habitat categories also varies differentially along each coast.Fil: Pérez Ruzafa, Ángel. Universidad de La Laguna; EspañaFil: Alvarado, Juan José. Universidad de Costa Rica. Centro de Investigación en Ciencias del Mar y Limnología; Costa RicaFil: Solís Marín, F. A.. Universidad Nacional Autónoma de México; MéxicoFil: Hernández, José Carlos. Universidad de La Laguna; EspañaFil: Morata, Alex. Universidad de La Laguna; EspañaFil: Marcos, C.. Universidad de La Laguna; EspañaFil: Abreu Pérez, M.. Ministerio de Ciencia, Tecnología y Medio Ambiente.; CubaFil: Aguilera, Orangel. Museu Paraense Emilio Goeldi; BrasilFil: Alió, J.. Instituto Nacional de Investigaciones Agrícolas; VenezuelaFil: Bacallado Aránega, J. J.. Muso de la Naturaleza y El Hombre de Tenerife; EspañaFil: Barraza, E. Tomás. Ministerio de Medio Ambiente y Recursos Naturales; El SalvadorFil: Benavides Serrato, M.. Instituto de Investigaciones Marinas y Costeras; ColombiaFil: Benítez Villalobos, F.. Universidad del Mar; MéxicoFil: Betancourt Fernández, L.. Programa Ecomar, Inc; República DominicanaFil: Borges, Margarida. Universidade Estadual de Campinas; BrasilFil: Brandt, M.. University Brown; Estados UnidosFil: Brogger, Martin Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; ArgentinaFil: Borrero Pérez, G. H.. Instituto de Investigaciones Marinas y Costeras; ColombiaFil: Buitrón Sánchez, B. E.. Universidad Nacional Autónoma de México; MéxicoFil: Campos, L. S.. Universidade Federal do Rio de Janeiro; BrasilFil: Cantera, J. R.. Universidad del Valle; ColombiaFil: Clemente, Sabrina. Universidad de La Laguna; EspañaFil: Cohen Renfijo, M.. Universite de la Mediterranee; FranciaFil: Coppard, S. E.. Smithsonian Tropical Researchh Institute; PanamáFil: Costa Lotufo, L. V.. Universidade Federal do Rio de Janeiro; BrasilFil: Guanuco de García, María del Valle. Ministerio de Ciencia, Tecnología y Medio Ambiente.; CubaFil: Díaz de Vivar, María Enriqueta Adela. Universidad Nacional de la Patagonia. Facultad de Ciencias Naturales. Sede Puerto Madryn; ArgentinaFil: Díaz Martinez, J. P.. Universidad del Mar; MéxicoFil: Díaz, Yudiesky Cancio. Universidad Simón Bolívar; VenezuelaFil: Durán González, A.. Universidad Nacional Autónoma de México; MéxicoFil: Epherra, Lucía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; ArgentinaFil: Rubilar Panasiuk, Cynthia Tamara. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; ArgentinaFil: Pérez, Analía Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentin

    Analysis of the contribution of <it>FTO</it>, <it>NPC1, ENPP1, NEGR1, GNPDA2</it> and <it>MC4R</it> genes to obesity in Mexican children

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    <p>Abstract</p> <p>Background</p> <p>Recent genome wide association studies (GWAS) and previous positional linkage studies have identified more than 50 single nucleotide polymorphisms (SNPs) associated with obesity, mostly in Europeans. We aimed to assess the contribution of some of these SNPs to obesity risk and to the variation of related metabolic traits, in Mexican children.</p> <p>Methods</p> <p>The association of six European obesity-related SNPs in or near <it>FTO, NPC1, ENPP1, NEGR1, GNPDA2</it> and <it>MC4R</it> genes with risk of obesity was tested in 1,463 school-aged Mexican children (<it>N</it><sub><it>cases</it></sub> = 514; <it>N</it><sub><it>controls</it></sub> = 949). We also assessed effects of these SNPs on the variation of body mass index (BMI), fasting serum insulin levels, fasting plasma glucose levels, total cholesterol and triglyceride levels, in a subset of 1,171 nonobese Mexican children.</p> <p>Results</p> <p>We found a significant effect of <it>GNPDA2</it> rs10938397 on risk of obesity (odds ratio [OR] = 1.30; <it>P</it> = 1.34 × 10<sup>-3</sup>). Furthermore, we found nominal associations between obesity risk or BMI variation and the following SNPs: <it>ENPP1</it> rs7754561, <it>MC4R</it> rs17782313 and <it>NEGR1</it> rs2815752. Importantly, the at-risk alleles of both <it>MC4R</it> rs17782313 and <it>NPC1</it> rs1805081 showed significant effect on increased fasting glucose levels (β = 0.36 mmol/L; <it>P</it> = 1.47 × 10<sup>-3</sup>) and decreased fasting serum insulin levels (β = −0.10 μU/mL; <it>P</it> = 1.21 × 10<sup>-3</sup>), respectively.</p> <p>Conclusion</p> <p>Our present results suggest that some obesity-associated SNPs previously reported in Europeans also associate with risk of obesity, or metabolic quantitative traits, in Mexican children. Importantly, we found new associations between <it>MC4R</it> and fasting glucose levels, and between <it>NPC1</it> and fasting insulin levels.</p
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