More on the new study on genetic causes of autism
Since yesterday afternoon, report after report on the new study on the genetic causes of autism has appeared. Most summarize the Nature Genetics study, which is entitled Mapping autism risk loci using genetic linkage and chromosomal rearrangements (you can read an abstract).
The February 19th MedPageToday provides this explanation of the study, in which DNA samples from 1,168 families—”the largest cohort yet of ASD families yet assembled”—with two or more autistic children were analyzed:
“Although familial clustering in autism could reflect shared environmental factors, twin studies and the distribution of milder phenotypes in families favors a model involving multiple interacting loci,” the investigators wrote.
They hypothesized that autism is a joint or combined genetic affair in which various combinations of susceptibility alleles may play a role.
………..
“Although we know autism is highly heritable, complex gene interactions and submicroscopic anomalies create a din of statistical noise that drowns out detection of signals from linked sites in the genome,” said Dr. [Bernie] Devlin [of the University of Pittsburgh]. “To amplify these signals, we brought to bear gene chip technology with a huge sample, and also screened for these fine-level anomalies, factoring them into the analysis.”
MedPageToday also explains more about the “automated genotype analysis techniques” that the researchers used to “conduct genetic linkage analysis,” which looks for “specific genetic markers in the vicinity of a suspected autism susceptibility gene.”
Further, an article in today’s Bergen Record (northern New Jersey) quotes Dr. Andy Shih, chief science officer for Autism Speaks and among the 137 authors of the study. Says Dr. Shih:
“If we can diagnose even 10 to 15 percent of children with autism very early in life, and start intervention, that in itself will have a tremendous impact.”
MedPageToday also emphasizes that, as the study’s authors themselves note, “the results point the way toward further studies, but are far from definitive.”
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