Five novel genetic variants have been linked to autism spectrum disorders (ASD), according to a new study. The research, released as a preprint by biorxiv.org last week, involved a genome-wide association study of more than 46,000 people and marks the first time that individual variants have been linked to the conditions. Some significant variants were also found to be linked to other neurological disorders, such as schizophrenia.
ASD is generally considered to be a collection of heritable, heterogeneous neurodevelopmental phenotypes. The broadness of conditions covered by the classification contributes to the fact that, at present, autism spectrum disorders are thought to be diagnosed in more than 1% of the population. Despite the prevalence of ASD, however, previous studies have been unable to identify genomic variants that could explain the highly heritable nature of the conditions.
Not only could this work help us to improve our understanding of autism spectrum disorders, it also demonstrates that large genome-wide association studies are an effective avenue for studying these types of conditions. The team hope that their work will encourage similar research by other groups.
The authors concluded, “We have established a first compelling set of common variant associations in ASD and have begun laying the groundwork through which the biology of ASD and related phenotypes will inevitably be better articulated.”
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