EXPLORING LARGE-SCALE GENOMIC STUDIES TO UNDERSTAND ASD SUSCEPTIBILITY GENES

Abstract

This study sought to find the genes that are associated with ASD due to their risk predictability in large-scale studies. The methodology presents a bibliographic review carried out between March and June 2024. Data collection was carried out in PubMed and Cohcrane; descriptors collected in DECS/MESH; the Boolean operators AND and OR were used; the inclusion criteria were studies from the last 5 years in English or Portuguese and complete studies. 150 findings met the inclusion criteria, after eligibility screening, 8 studies included this review. 21 risk genes for autism were found to be most common in the selected studies. The genes that appear most in studies are: GRIN2B, SCN2A, ADNP, ANK2, ARID1B, ASH1L, DNMT3A, DYRK1A, FOXP1, GIGYF1, KDM5B, KDM6B, KMT2C, NRXN1, POGZ, PTEN, SHANK2, SHANK3, SLC6A1, TCF7L2, WAC . Among the functional pathways most associated with these genes are the regulation of membrane potential, methyltransferase complex, cognition and behavior. It is concluded that understanding risk genes for ASD is a major advance in identifying subgroups within the spectrum based on underlying biological mechanisms, allowing for more accurate and earlier diagnoses, directing specific behavioral therapies and pharmacological pathways. These genes are associated with the phenotypic characteristics expressed by individuals with the disorder.