Genome-Wide Insights into The Role of Genetic Variability in Linguistic and Cognitive Functions

Abstract

Language and cognition are complex human traits influenced by polygenic and environmental factors. Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) and loci associated with phonology, syntax, semantics, and other cognitive abilities, highlighting the shared and distinct genetic architecture underlying these processes. Key genes-including PAX6, ATP1A2, KCNJ10, PROX1, and MIR3945-affect phonological processing, working memory, and grammatical development, and are linked to neural circuits in the superior temporal, inferior frontal, and parietal regions. Polygenic scores further demonstrate that early-life environmental factors, such as socioeconomic status and maternal nutrition, interact with genetic predispositions to shape cognitive trajectories. Despite substantial progress, much of the genome remains uncharacterized, and cross-population validation is limited. Integrating GWAS findings with longitudinal neurocognitive and multi-omic datasets provides a framework for understanding how genetic variability contributes to language processing, cognitive development, and their disorders, paving the way for personalized educational and clinical interventions.