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Largest Autism Gene Dragnet Fingers 33 Prime Suspects

Brain machinery for communication, transcription, regulation implicated

Science Update

The largest study of its kind to date has strongly implicated 33 genes in autism – a nearly 4-fold increase over previous findings. Genes underlying the neural machinery for shaping communication between brain cells, gene expression, and its regulation by environment emerged as conferring the most risk. NIMH/NHGRI-funded researchers of the Autism Sequencing Consortium reported on their findings October 29, 2014 in the journal Nature. Rare glitches in 107 genes confer relatively higher risk. Among 2270 trios of patients and their parents, 13.8 percent carried such mutations – a level significantly higher than would be expected by chance. Such anomalies have a much higher impact on risk than most of the more than 1000 genes that the researchers estimate are likely involved in autism. By comparing types of mutations found in girls versus boys – who have much higher rates of autism – the researchers pinpointed mutations that confer more than a 20-fold increase in risk in boys (see video below).

For the full story see: Changes in Scores of Genes Lead to Autism Risk

Reference

Synaptic transcriptional and chromatin genes disrupted in autism. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Sean Hill R, Ionita-Laza I, Jimenez Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Jeremy Willsey A, Yu TW, Yuen RK; The DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; The Autism Sequencing Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Nature. 2014 Oct 29. doi: 10.1038/nature13772. [Epub ahead of print]

Grants: MH100233,MH100209, MH100229, MH100239, MH089482, MH057881, MH061009, MH089208

Video

Joseph Buxbaum, Ph.D., of the School of Medicine at Mount Sinai, a senior author of the new study, discusses new genetic evidence that helps to explain why boys have higher rates of autism than girls. He spoke during an Autism Science Foundation event last Spring. The new study identified mutations conferring more than 20-fold higher risk by comparing such genetic glitches across the sexes.

Source: Autism Science Foundation

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