Deleterious coding variation associated with autism is shared across ancestries
Summary
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic liability across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries (GALA
Content
# Deleterious coding variation associated with autism is shared across ancestries
*Published: 2026 Apr*
The past decade has seen remarkable progress in identifying genes that, when
impacted by deleterious coding variation, confer high likelihood for autism
spectrum disorder (ASD), intellectual disability and other associated
developmental disorders. However, most underlying gene discovery efforts have
focused on individuals of European ancestry, limiting insights into genetic
liability across diverse populations. To help address this, the Genomics of
Autism in Latin American Ancestries (GALA) Consortium was formed, presenting
here the largest sequencing study of autism in Latin American individuals
(n > 15,000, including 4,717 participants with an ASD diagnosis). We identified
35 genome-wide significant (false discovery rate < 0.05) autism-associated
genes, with substantial overlap with findings from European cohorts, and highly
constrained genes showing consistent signal across populations. The results
provide support for emerging (for example, MARK2, YWHAG, PACS1, RERE, SPEN,
GSE1, GLS, TNPO3 and ANKRD17) and established autism genes and for the utility
of genetic testing approaches for deleterious variants in individuals from
diverse backgrounds; the results also demonstrate the ongoing need for more
inclusive genetic research and testing. We conclude that the biology of autism
is consistent across populations, with no detectable influence of ancestry.
DOI: 10.1038/s41591-026-04228-6