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Largest Autism Genome Study Finds Most Siblings Have Different Autism-Risk Genes

Wally

Senior Member
Messages
1,167
http://www.sciencedaily.com/releases/2015/01/150126124604.htm
Largest-ever autism genome study finds most siblings have different autism-risk genes
Date: January 26, 2015
Source: Autism Speaks
Summary: The largest-ever autism genome study reveals that the disorder's genetic underpinnings are more complex than previously thought: Most siblings who have autism have different autism-linked genes. The study's data is part of the historic first upload of approximately 1,000 autism genomes to the Autism Speaks MSSNG portal in Google Cloud Platform. The data will be openly available for global research in order to speed understanding of autism and the development of individualized treatments.


The findings challenge long-held presumptions. Because autism often runs in families, experts had assumed that siblings with the disorder were inheriting the same autism-predisposing genes from their parents. It now appears this may not be true.

Click here to read more of this news release - http://www.sciencedaily.com/releases/2015/01/150126124604.htm
 
Messages
15,786
... So autism "risk" genes aren't actually associated with autism?

This is one reason I hate large-scale genetic research. They get a tiny effect from a bunch of SNPs, and it essentially means absolutely nothing useful.
 

natasa778

Senior Member
Messages
1,774
... So autism "risk" genes aren't actually associated with autism?

This is one reason I hate large-scale genetic research. They get a tiny effect from a bunch of SNPs, and it essentially means absolutely nothing useful.

And still they get gazzillions more $$$ for an even larger-scale waste of money. And when they get zero results from 9000 more genomes they'll once again conclude that "underpinnings are EVEN more complex blah blah". And ask for even more money ... An image of a dog and its tail comes to mind.
 

natasa778

Senior Member
Messages
1,774
Reminds me of that genetic uber-study where they tested 50,000 people to finally pin down "genetic underpinnings of depression". Got f**k all, and concluded that they needed an ever bigger sample o_O

Would be funny if it wasn't tragic wrt to money and time wasted ...
 

cigana

Senior Member
Messages
1,095
Location
UK
... So autism "risk" genes aren't actually associated with autism?
Maybe I misunderstood something, the way I read it was that the autism-linked genes are still risk genes, but they are just not necessarily shared by siblings...?
 
Messages
15,786
Maybe I misunderstood something, the way I read it was that the autism-linked genes are still risk genes, but they are just not necessarily shared by siblings...?
My impression is that they're spinning the null results they found in a new study which attempted to replicate an earlier study.
 

natasa778

Senior Member
Messages
1,774
I cannot get full version for this one but it seems MUCH more useful and rooted in real life

http://www.ncbi.nlm.nih.gov/pubmed/25629966

Epigenetics of Autism-related Impairment: Copy Number Variation and Maternal Infection.

Epidemiological data have suggested maternal infection and fever to be associated with increased risk of autism spectrum disorder (ASD). Animal studies show that gestational infections perturb fetal brain development and result in offspring with the core features of autism and have demonstrated that behavioral effects of maternal immune activation are dependent on genetic susceptibility. The goal of this study was to explore the impact of ASD-associated copy number variants (CNVs) and prenatal maternal infection on clinical severity of ASD within a dataset of prenatal history and complete genetic and phenotypic findings.

METHODS::
We analyzed data from the Simons Simplex Collection sample including 1971 children with a diagnosis of ASD aged 4 to 18 years who underwent array comparative genomic hybridization screening. Information on infection and febrile episodes during pregnancy was collected through parent interview. ASD severity was clinically measured through parent-reported interview and questionnaires.

RESULTS::
We found significant interactive effects between the presence of CNVs and maternal infection during pregnancy on autistic symptomatology, such that individuals with CNVs and history of maternal infection demonstrated increased rates of social communicative impairments and repetitive/restricted behaviors. In contrast, no significant interactions were found between presence of CNVs and prenatal infections on cognitive and adaptive functioning of individuals with ASD.

CONCLUSIONS::
Our findings support a gene-environment interaction model of autism impairment, in that individuals with ASD-associated CNVs are more susceptible to the effects of maternal infection and febrile episodes in pregnancy on behavioral outcomes and suggest that these effects are specific to ASD rather than to global neurodevelopment.



Throw some HERV reactivation (CNVs how?) into this picture and we are on the right track imo
 
Messages
15,786
A negative result is not 'useless'. For it allows attention to shift towards other investigations.

Well, unless we do the study and still pretend that the effect exists, when we have evidence to the contrary... *cough*
Exactly :rolleyes: Null results are not a problem, but the spin and hype they're creating is a HUGE problem.
 

Sidereal

Senior Member
Messages
4,856
A negative result is not 'useless'. For it allows attention to shift towards other investigations.

Well, unless we do the study and still pretend that the effect exists, when we have evidence to the contrary... *cough*

A negative result can be highly useful but in this instance it will just be used as "evidence" that even more money should be spent on genetic studies instead of more fruitful avenues.