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Researchers Identify Novel Autism Candidate Gene

Analysis of 17q11-q21 chromosomal region implies CACNA1G plays role in condition's etiology

FRIDAY, June 5 (HealthDay News) -- The calcium channel subunit gene, CACNA1G, may be a novel candidate gene for autism spectrum disorder, according to a study published online May 19 in Molecular Psychiatry.

Samuel P. Strom, a graduate student researcher at the University of California in Los Angeles, and colleagues typed both parents and one affected son in 302 male-only trios. They selected 2,042 single nucleotide polymorphisms for genotyping in 17q11-q21, a chromosomal region which had previously been linked to autism spectrum disorder.

The researchers identified markers within the interval containing the gene CACNA1G that were significantly associated with autism spectrum disorder.

"Further investigation, including replication to confirm common variants and DNA re-sequencing to identify rare variants, is required to establish the role CACNA1G may play in the etiology of the disorder," the authors conclude. "Combined with our previous studies, the majority of common variants in the replicated autism spectrum disorder linkage region on chromosome 17q have now been tested for association. These findings demonstrate that, while multiple loci in the interval may contribute to the disorder, the sum of the effects of individual common variants alone cannot explain the strength and replication of linkage. Rather, gene-gene interactions, gene-environment interactions, rare variants, or other mechanisms not yet implicated must contribute to the etiology of this complex disease."

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