Genetic Links?
Just wondering if anyone else had their DNA profile done and saw the Autism genetic connection?
I had mine done and just found this:
Mine is: rs759178(T;T)
minus Orientation
24.1% Frequency
0.399 GMAF
0 References
CNTNAP2 Gene
7 Chromosome
147878020 Position
Reported to be in very tight (r<sup>2</sup>>0.98) linkage with rs2710102, and thus potentially associated with autism.
Speech development rs4431523, rs17236239 and significant associations (with P values from 0.01 to 5.0x10–5) between nonsense-word repetition and nine intronic SNPs (rs851715, rs10246256, rs2710102, rs759178, rs1922892, rs2538991, rs17236239, rs2538976, and rs2710117)
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
CNTNAP2 variants affect early language development in the general population.
http://www.snpedia.com/index.php/Rs759178
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And I also have this one:
rs1322784(T;T)
minus Orientation
61.9% Frequency
0.3039 GMAF
4 References
DISC1 Gene
1 Chromosome
231793189 Position
.rs1322784, an intragenic SNP associated with the 'disrupted in schizophrenia' DISC1 gene, was reported to be associated with asperger's syndrome
This same study also implicated the 'HEP3 haplotype' in asperger's syndrome.
The HEP3 haplotype contains two SNPs in the DISC1 gene, rs751229 and rs3738401, and was first reported as a haplotype under-represented in individuals with affective disorders. ...
http://www.snpedia.com/index.php/Rs1322784
Side note: my doc said I do NOT have schiz .
And this as well:
rs167771(A;A)
1 Magnitude
plus Orientation
67.3% Frequency
0.348 GMAF
8 References
DRD3 Gene
3 Chromosome
114157428 Position
1.1 Max Magnitude
Possibly more 'Insistence on Sameness' on ADI-R test.
Possibly increased FTND nicotine dependence.[http://www.ncbi.nlm.nih.gov/pubmed/22309839?dopt=Abstract...less...rs167771 was significantly associated with autism spectrum disorder in a study of 144 patients.
G allele associated with increased extra-pyramidal symptom risk as a result of risperidone treatment in a study of 321 psychiatric inpatients (81 presenting with EPS and 189 without) [PharmGKB:Curated Risk or phenotype-associated allele: G. Phenotype: The G variant of rs167771 was associated with increased risk for extrapyramidal symptoms in psychiatric patients receiving risperidone. Study size: 132. Study population/ethnicity: Patients with Schizophrenia or Bipolar disorder receiving antipsychotics; Caucasians; Spain; Catalonia. Significance metric(s): OR = 3.3; p = 0.00013. Type of association: PD.] ... more info...http://www.snpedia.com/index.php/Rs167771
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"I am never more at home than when I am alone."
It depends on where you live and what services you use. I am in the USA. I used Ancestry.com and took that test (it is only saliva and very easy to mail back to them). They have a place (almost hidden) in the DNA results where you can download the txt file of your DNA. It cost me about $90 to do that part. After I got the DNA information back, I just ran it through another website https://promethease.com/ That was only $5 for the actual report.
So for me, I got the blueprint to myself for less than $100 . Best purchase EVER!! !! !! !
I have heard where some gov groups are trying to shut this method down... but not sure they will be able to do that.
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"I am never more at home than when I am alone."
The Autism Genome Project is researching this.
http://www.autismspeaks.org/science/ini ... me-project
To get a full picture of the genetics, they'll need to expand to do epigenetic testing. There can be an absence of mutations in your DNA, but histones and methylation of DNA can render it inactive.
I also think some social behavior may be inherited epigenetically rather than genetically.
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Reason over passion. Pierre E. Trudeau - former Canadian PM.
I am AA for rs16771 possibly increased sameness. AA for rs 3923890 which is linked to lower social interaction. rs759178(G;T) . rs1322784(C;T)
Whilst not diagnosed I have aspergic traits. I have social interaction difficulties ie no friends and spend vast amounts of my time alone. I am not good with change.