11 documents found, page 1 of 2
Prevalence of autism spectrum disorder in the centro region of Portugal: A popu...
Rasga, Célia; Xavier Santos, João; Café, Cátia; Oliveira, Alexandra; Duque, F; Posada, Manuel; Nunes, Ana; Oliveira, Guiomar; Vicente, Astrid MIntroduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region...
Evidence for an association of prenatal exposure to particulate matter with cli...
Xavier Santos, João; Sampaio, Pedro; Rasga, Célia; Martiniano, Hugo; Farias, Clarissa; Café, Cátia; Oliveira, Alexandra; Duque, F; Oliveira, GuiomarEarly-life exposure to air pollutants, including ozone (O3), particulate matter (PM2.5 or PM10, depending on diameter of particles), nitrogen dioxide (NO2) and sulfur dioxide (SO2) has been suggested to contribute to the etiology of Autism Spectrum Disorder (ASD). In this study, we used air quality monitoring data to examine whether mothers of children with ASD were exposed to high levels of air pollutants duri...
Biomedical Knowledge Graph Embeddings for Personalized Medicine
Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Xavier Santos, João; Rasga, Célia; Vicente, Astrid; Martiniano, HugoPersonalized medicine promises to revolutionize healthcare in the coming years. However significant challenges remain, namely in regard to integrating the vast amount of biomedical knowledge generated in the last few years. Here we describe an approach that uses Knowledge Graph Embedding (KGE) methods on a biomedical Knowledge Graph as a path to reasoning over the wealth of information stored in publicly access...
Exposure to Xenobiotics and Gene-Environment Interactions in Autism Spectrum Di...
Xavier Santos, João; Rasga, Célia; Moura Vicente, AstridHeritability estimates indicate that genetic susceptibility does not fully explain Autism Spectrum Disorder (ASD) risk variance, and that environmental factors may play a role in this disease. To explore the impact of the environment in ASD etiology, we performed a systematic review of the literature on xenobiotics implicated in the disease, and their interactions with gene variants. We compiled 72 studies repo...
Exploring mechanisms of gene-environment interactions contributing to the onset...
Xavier Santos, João; Martiniano, Hugo; Marques, Ana Rita; Rasga, Célia; Vilela, Joana; Moura Vicente, AstridSequencing studies have yielded several candidate genes for Autism Spectrum Disorder (ASD). However, the biological mechanisms underlying its onset are still unclear. Environmental factors may modulate ASD risk, with heritability estimates of 50-80% supporting a role for gene-environment interactions in idiopathic cases. We hypothesize that ASD candidate genes interact with reported ubiquitous environmental ris...
A role for gene-environment interactions in Autism Spectrum Disorder is support...
Xavier Santos, JoãoObjective: Identify variants in these genes, in ASD patients
Rare variants targeting genes that encode cytochrome P450 enzymes in Autism Spe...
Xavier Santos, João; Marques, Ana Rita; Martiniano, Hugo; Vilela, Joana; Rasga, Célia; Oliveira, Guiomar; Moura Vicente, AstridAutism Spectrum Disorder (ASD) heritability estimates of 50-80% support the hypothesis that gene-environment interactions play a role in this pathology. ASD risk has been associated with early exposure to various xenobiotics that are cleared in the liver by Cytochrome P450 enzymes. We therefore explored the hypothesis that variants in CYP450 genes, which define the rapid or slow metabolizer status of their carr...
Autism Spectrum Disorder: modulation of genomic variant effects on brain struct...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Xavier Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid M.The main objective of this work is to identify Single Nucleotide Variants (SNVs) that play a role in ASD etiology in neurotransmission and synaptic genes since there is strong genomic and functional evidence that these biological processes are altered in ASD.
Gene-environment interactions in Autism Spectrum Disorder (ASD)
Xavier Santos, João; Rasga, Célia; Marques, Ana Rita; Asif, Muhammad; Café, Cátia; Nunes, Ana; Oliveira, Guiomar; Moura-Vicente, AstridAutism Spectrum Disorder – Background: Phenotypically heterogeneous neurodevelopmental disorder, with a global prevalence rate of 1% , characterized by deficits in social communication and interaction and stereotyped and repetitive behaviours. - Genetic factors, namely rare copy number variants (CNVs), are responsible for a considerable fraction of ASD cases . - The recent heritability estimates of approximate...
Gene-environment interactions in Autism Spectrum Disorder (ASD): excess copy nu...
Xavier Santos, JoãoASD is an heterogeneous neurodevelopmental disorder, with an estimated heritability of 50% and a complex genetic etiology. Recent studies also implicate exposure to environmental factors in this disorder. We thus hypothesize that ASD is the result of the interaction of a genetic susceptibility with exposure to environmental toxicants early in development. Here we tested whether affected individuals have an exce...