RT Journal Article
T1 Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes
A1 Alonso González, Aitana
A1 Calaza Cabanas, Manuel
A1 Rodríguez Fontenla, María Cristina
A1 Carracedo Álvarez, Ángel
K1 Autism Spectrum Disorder
K1 Gene-Based Analysis
K1 Neurodevelopmental Disorders
K1 Differential Expression Analysis
K1 Gene-Network Analysis
K1 Genome-Wide Association Study
K1 Single-Nucleotide Polymorphism
AB Autism spectrum disorder (ASD) is a neurodevelopmental disordercharacterized by its significant social impact and high heritability. The latest meta-analysisof ASD GWAS (genome-wide association studies) has revealed the association of severalSNPs that were replicated in additional sets of independent samples. However, summarystatistics from GWAS can be used to perform a gene-based analysis (GBA). GBA allowsto combine all genetic information across the gene to create a single statistic (p-valuefor each gene). Thus, PASCAL (Pathway scoring algorithm), a novel GBA tool, has beenapplied to the summary statistics from the latest meta-analysis of ASD. GBA approach(testing the gene as a unit) provides an advantage to perform an accurate insight intothe biological ASD mechanisms. Therefore, a gene-network analysis and an enrichmentanalysis for KEGG and GO terms were carried out. GENE2FUNC was used to create geneexpression heatmaps and to carry out differential expression analysis (DEA) across GTExv7 tissues and Brainspan data. dbMDEGA was employed to perform a DEG analysisbetween ASD and brain control samples for the associated genes and interactors.
PB Frontiers Media
YR 2019
FD 2019
LK http://hdl.handle.net/10347/21126
UL http://hdl.handle.net/10347/21126
LA eng
NO Alonso-Gonzalez A, Calaza M, Rodriguez-Fontenla C and Carracedo A (2019) Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes. Front. Genet. 10:733. doi: 10.3389/fgene.2019.00733
NO AA-G was supported by Fundación María José Jove. CR-F was supported by a contract from the ISCIII and FEDER
DS Minerva
RD 28 abr 2026