Common genetic variations implicated in autism are reported in two papers published this week by Nature. The studies represent the first robust evidence of a link between such common variations and autistic spectrum disorders.

“The genes that were discovered appear to be involved in the development of the frontal lobe of the brain … that is, involved in complex behaviour such as social behaviour and also abstract thought,” says study author Geri Dawson, chief officer of the Autism Speaks group (ABC News).

In one of the papers the research team uses a genome-wide association study with 780 families to pinpoint six single nucleotide polymorphisms linked to autistic spectrum disorders (ASDs). The second paper pin-points two major gene pathways as linked to ASDs

“It is very exciting,” says Hakon Hakonarson, who led both studies (LA Times). “It opens up the opportunity someday for new interventions to fix the bad consequences this variant has on brain function and development.”

Hakonarson is director of the Center for Applied Genomics at the Children’s Hospital of Philadelphia.

More coverage

Autistic Kids Have Altered Genes Controlling Brain Development – Bloomberg

Biggest autism study identifies gene variations behind condition – Times

Papers

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes