Massive sequencing studies reveal key autism genes
29 October 2014
Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported today in Nature1, 2.
These 50 ‘high-confidence’ autism genes may help researchers understand the biological underpinnings of autism.
“This is just absolutely thrilling,” says Matthew State, chair of psychiatry at the University of California, San Francisco, who was involved in both studies. “For so many years it felt incredibly challenging to figure out how we were going to identify autism genes. Now we can begin to see the biology clarify itself through these papers.”
The researchers found these genes by scouring the exomes, the protein-coding regions of the genome, looking for rare genetic glitches unique to people with autism.
One study sequenced members of 2,517 families — a child with autism and his or her unaffected siblings and parents — and pinpoints 27 candidate genes.
The other bears the fruit of an international consortium that has compiled data from nearly 4,000 people with autism from across the world. It highlights 33 autism risk genes.
The two lists share only ten genes, but overall the genes point to two key functions: communication between neuronal junctions, or synapses, and control of gene structure and expression. The latter, virtually unheard of in autism five years ago, is emerging as the strongest pathway involved in the disorder.
“The two studies have complementary but certainly distinctive designs, and they point to basically the same biological processes,” says Patrick Sullivan, professor of genetics at the University of North Carolina at Chapel Hill, who was not involved with either study. “It will give some important clues to work from.”
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