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Study finds five genetic risk loci for autism

GAMBIN GB, CC BY-SA 4.0, via Wikimedia CommonsImage licenceFull-size image

Researchers led by Grove and Ripke drew on a Danish population resource to run a genome-wide association meta-analysis of 18,381 people with autism spectrum disorder and 27,969 controls, published via doi.org in 2019. They identified five genome-wide-significant loci tied to autism. Because autism's genetic architecture overlaps significantly with schizophrenia, major depression and educational attainment, the team leveraged those GWAS results and turned up seven more loci shared with those traits at the same strict significance level. Dissecting the polygenic architecture further, the authors found both quantitative and qualitative heterogeneity across autism subtypes, with results pointing toward neuronal function and corticogenesis.

Pinning down specific genetic loci linked to autism could help researchers understand its biological basis, though the study did not describe any clinical applications.

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