genetics, environmental triggers and autism

[Jimjams]

not very detailed, but thought these studies looked as if they could be interesting . Anyone got further details?

[ruty]

very interesting jimjams - thank god someone is doing research in the area - mothers here may just have some of their hunches proven by research in years to come. would like more details too.

[ruty]

presumably it also may mean that babies with this genetic suscepibility may not be able to tolerate vaccines? Not just ones with live viruses or thimersol?

[Saker]

this is the abstract from the journal, I will see if I can access the whole paper if you want it?

Replication of autism linkage: fine-mapping peak at 17q21.

Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. A genome scan of 345 families from the Autism Genetic Resource Exchange (AGRE) (AGRE1), gave the strongest evidence of linkage at 17q11-17q21 in families with no affected females. Here, we report a full-genome scan of an independent sample of 91 AGRE families with 109 affected sibling pairs (AGRE2) that also shows the strongest evidence of linkage to 17q11-17q21 in families with no affected females. Taken together, these samples provide a replication of linkage to this chromosome region that is, to our knowledge, the first such replication in autism. Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21.

[Jimjams]

thanks saker- have you got the second one?

[Chuffed]

Oh that is interesting Jimjams and at the end when they mentioned tetanus vaccination made me quite happy I refused it for myself (14wks pregnant)yesterday.

Agree with ruty that they will find out that what all the mothers have known all along will finally become science.

[Saker]

Jimjams they don't give a reference for the Judy van der Water stuff. I searched van der Water in pubmed but it doesn't come with anything relevant. So not sure where this is published if it is published.

[Jimjams]

ah thanks saker...

[tamum]

There were a few AJHG papers on autism mapping in the last month or so- do you want them? At least one from Tony Monaco, don't know it's the same?

[tamum]

Here are a few (this work has been going on for years and years incidentally)


Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism

D. Q. Ma,1 P. L. Whitehead,1 M. M. Menold,1 E. R. Martin,1 A. E. Ashley-Koch,1 H. Mei,3 M. D. Ritchie,4 G. R. DeLong,2 R. K. Abramson,5 H. H. Wright,5 M. L. Cuccaro,1 J. P. Hussman,6 J. R. Gilbert,1 and M. A. Pericak-Vance1


Allelic Heterogeneity at the Serotonin Transporter Locus (SLC6A4) Confers Susceptibility to Autism and Rigid-Compulsive Behaviors

James S. Sutcliffe,1,2,3,4 Ryan J. Delahanty,2,4 Harish C. Prasad,6 Jacob L. McCauley,2,4 Qiao Han,6 Lan Jiang,2,4 Chun Li,3,5 Susan E. Folstein,7 and Randy D. Blakely1,6


Gabrielle Barnby,1 Aaron Abbott,1 Nuala Sykes,1 Andrew Morris,1 Daniel E. Weeks,3 Richard Mott,1 Janine Lamb,1 Anthony J. Bailey,2 Anthony P. Monaco,1 and the International Molecular Genetics Study of Autism Consortium (IMGSAC)*

[tamum]

Bum, missed off the title of the last one:

Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT

[Jimjams]

cheers tamum.yep wouldn't mind a read. I'm more interested in the second one if you have access to that (if its published).

[tamum]

Yes, all published, and have full access. The SLC6A4 one?

[Jimjams]

(prefer to read about triggers atm rather than pure genetics because otherwise I get too paranoid/depressed about ds3's chances)

[Jimjams]

sorry meant the 2nd one from the original article- judy van de water's whoever she may be...

[Jimjams]

nothing like sticking my head in the sand

[tamum]

Nope, sorry, can't see any sign of it having been published. I can see your point...

[Jimjams]

we're approaching the dodgy 6 months......

[Saker]

bit here - looks like she presented it at a conference so probably not published yet.
here

[Jimjams]

thanks saker- that's interesting.

[ruty]

i'm going to send it to the immunologist my ds sees. thanks for that saker and jimjams.

[beccaboo]

This is so interesting. I don't have a science background, but it seems to me that maybe they ARE getting nearer to finding some answers.....

Jimjams, I really agreed with what you wrote on another thread about autistic children being a diverse group, with different causes. I do wonder about this myself. It's hard to see sometimes what a person with AS or very HF has in common with someone who is severely affected. The common elements come from observation - the triad etc - and without a test we don't actually know 100% for sure that all these children are affected by the same thing.

It seems odd to me that the professionals are happy to agree that these children's symptoms all have something in common, but when the comparison is drawn with eg. mercury poisoning, they cannot acknowledge that it also has something in common with that.......

[Jimjams]

Roz Blackburn thinks that people with AS and people with severe autism have totally different conditions. She thinks that people with autism don't care what others think, whereasthose with AS care too much.

It is true that Ds is nothing like someone wiith hfa/AS. Completely different problems.

I think this year there is quite a bit due to be published on mercury. It'll make interesting reading.

[Davros]

My sister with AS doesn't care what other people think, UNLESS it impacts her in some practical way, then she goes over the top.
My DS, who is classicaly/severely autistic has very similar problems to a friend's DS who has hf autism (not AS for some reason). My friend's DS has NO learning disability but he is anxious, obsessive and extremely difficult. So is my DS. They couldn't be further apart on the spectrum yet have such similar problems. There's a case study for you!

[Jimjams]

well I guess it might be tricky for Roz Blackburn t see another point of view