Included below are two recent publications where researchers have used data from the 1000 Genomes Project to study autism spectrum disorder (ASD), a common neurological disorder that influences how individuals interact with others, communicate, and learn.
In the first study researchers used 1000 Genomes Project data to study autism spectrum disorder in 866 families. Researchers searched for rare genetic changes in families with two or more siblings diagnosed with ASD and found a gene called FRRS1L. This work offers new insights into the inherited risk factors and biological mechanisms involved in the disorder.
For more information:
Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection.
Scientific Reports, 2025 | https://doi.org/10.1038/s41598-024-83839-w
In the second study, researchers used 1000 Genomes Project data to study why ASD is more common in men and less common in women. The study looked at genetic information in over 15,000 individuals, including 6,873 patients with ASD. The researchers found several genes with changes that may increase the chances that a person will have ASD. A set of genes called ASB9, ASB11, DDX53, and FGF13, were highlighted as potentially playing a role in the condition. This work helps to understand the inherited basis of ASD.
For more information:
Chromosome X-wide common variant association study in autism spectrum disorder.
The American Journal of Human Genetics, 2025 | https://doi.org/10.1016/j.ajhg.2024.11.008
