Genetic basis of (some) autism
Dalila Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) doi:10.1038/nature09146 http://www.nature.com/nature/journal/va ... 09146.html
(And editorial summary http://blogs.nature.com/news/thegreatbe ... ked_t.html)
There is some excellent reference material collected here. There are some mind-mapping style images of the genetic locii implicated in ASDs, a useful functional summary of all implicated locii and a written summary of the clinical effects associated with each locus. The relevant material is not in the paper, but in the 3.8 MB PDF download of supplementary data at http://www.nature.com/nature/journal/va ... 146-s1.pdf
The population attributable risk of all the identified locii is still only 3.3%.
What I would expect from Canadians. So a proven ASD group, with intelectual disability often mentioned, is compared to "Europeans," a code word for English.
People with proven ASDs, a random sample of matched controls, and the result, a 1% higher rate of duplications and deletions in CNV.
I do not find this shocking, and would like some more controls, say people who have been convicted and sent to jail for stealing, Left handed people, and hockey players.
!% can be accounted for by a few subjects who are called ASD, carrots fit the criteria, but who have been through the genetic mixer, and came out scrambled. Their mother was also their grandfather.
Tossing out 5% of the subjects at the ends of the curve, the 1% would likely vanish.
As intelectual disability was often mentioned, where the controls IQ matched?
It sounds like we are comparing LFA with Psychology Majors, and getting hardly a 1% differance.
I would like to see the study expanded, I would like to know the CNV rates between Microsoft and Apple.
As ruveyn points out, ASDs have a wide range.
The interesting part is in the reference materials appended to the paper, for instance the detailed clinically relevant associations of each gene locus:
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