3 research outputs found
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe
Resistência parasitária em helmintos de eqüídeos e propostas de manejo Parasite resistance on helminths of equids and management proposal’s
Os eqüinos apresentam uma grande variedade de parasitas em sua fauna helmíntica, e algumas espécies/gêneros são de relevada importância, como: Parascaris equorum, Anoplocephala perfoliata, Oxyuris equi, Cyathostomum spp. e Strongylus spp. O controle destas infecções depende principalmente da utilização de produtos antiparasitários de forma supressiva ou estratégica e, em menor escala, de forma curativa. O tratamento supressivo é o fator mais importante na promoção da seleção de organismos resistentes, prejudicando a sustentabilidade de qualquer programa sanitário. As formas de detecção da resistência parasitária são onerosas e as mais comuns expressam resultados imprecisos. Entretanto, estas técnicas servem para monitorar a evolução e determinar os organismos envolvidos. A combinação de drogas é uma ferramenta que deve ser utilizada com muita cautela, pois esta alternativa não garante uma redução significativa de organismos resistentes aos compostos envolvidos. O objetivo deste artigo é apresentar formas de planejamento que auxiliem a melhorar a condição sanitária, o bem-estar dos animais e preserve o efeito tóxico dos produtos antiparasitários.<br>Equines harbour a variety of parasitic organisms on their helminth fauna and there are a few species/genus of interest, such as: Parascaris equorum, Anoplocephala perfoliata, Oxyuris equi, Cyathostomum spp. and Strongylus spp. The control of these infections relies mostly on the suppressive or strategic usage of antiparasitic compounds, and to a less extent on curative/salvage treatments. Suppressive treatment is the most important factor regarding the selection of resistant organisms, causing the impairment of sanitary programs. Detection methods of parasite resistance are expensive and the most common ones express variable results. Although, these techniques allow monitoring the evolution and the determination of which organisms are involved. Drug combination is a toll that should be used with caution, because it may not reduce the presence of resistant organisms to the compounds involved. The objective of this article is to demonstrate control alternatives that would contribute to sanitary management, to improve animal welfare and to preserve the toxic effect of the antiparasitic products