23/03/2025
Vaccines and Autism... there’s a constant argument that keeps rearing its head - do vaccines cause Autism?
This has been answered extensively in many publications and clinical trials, however, this write-up isn’t about those arguments. Let us jump straight to the human genome to discuss the genetic links with Autism. Firstly some basics...
Humans have 23 pairs of chromosomes. 22 are called autosomal chromosomes, and the remaining pair are the s*x chromosomes. You’ve probably heard of the X and Y s*x chromosomes. You inherit one of each pair from your father, and one of each pair from your mother.
During this initial “inheritance,” there is what is called a crossing over, a kind of mixing and matching some traits as dominant and recessive. During this time, genes are passed down. Sometimes certain genes may not manifest for a few generations.
Autism is one of these genes. Let me not get ahead of myself here. Attached is an image listing some of the known Autism genes, and the specific chromosomes that they are located on. For example, the AUTS1 gene is located on chromosome 7, in a region called q22. For clarity, each chromosome has two arm regions, p and q. These are broken up into numbers (like house addresses) so we know exactly where each genes lies in the chromosome.
Think of it like a filing cabinet, where we’ve labelled one draw p and one draw q. In those draws, are folders numbered 1 to, for example 100. In each of those folders, we have the gene details for what we’d find in area 1, area 2, and so on.
We also have a third drawer, and in that drawer, we have information on the X and Y chromosome genes. Down the list on the image, you will notice that many genes are listed as X-linked. For example, AUTSX1 with mutations on the NLGN3 gene. These X-linked genes are directly inherited.
This write-up would go for about 300 pages if I were to explain all of these genes, one by one. You can look them up here as a starting point under the heading “Mapping”
Www.OMIM.org/entry/209850
Let’s start with the first one, AUTS1. AUTS1 was discovered in 2001 by the International Molecular Genetic Study of Autism Consortium (2001). This was confirmed by Yu et al. (2002) and Trikalinos et al. (2006).
What does the AUTS1 gene(s) do? There are 36 reference articles/studies detailing specifics for the AUTS1 gene. These are listed below. Note that there are as many if not more links for each and every gene listed in the image. The OMIM link above is a great start.
Each of these genes may or may not be dominant at crossing over. As these genes form a part of child development, it’s not quite as easy a simple test to determine if any or all of them are present AND whether they’ll be dominant or recessive AND how they will show exact traits/characteristics in any specific individual.
The moral of this write-up is that there are numerous genes that can and do cause ASD traits. They are there, whether or not you vaccinate, whether you do or do not eat vegan or meat, drink filtered or unfiltered water, or stand on your head yodelling whilst pregnant.
Here’s that basic info on the AUTS1 gene:
AUTS1 gene:
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility
https://www.nature.com/articles/mp200934
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
https://academic.oup.com/hmg/article/10/9/973/2901587
Autism etiology: Genes and the environment
https://triggered.clockss.org/ServeContent?url=http://www.la-press.com%2Fredirect_file.php%3FfileId%3D2357%26filename%3D1670-AUI-Autism-Etiology%3A-Genes-and-the-Environment.pdf%26fileType%3Dpdf
Identification of the Human Cortactin-Binding Protein-2 Gene from the Autism Candidate Region at 7q31
https://www.sciencedirect.com/science/article/pii/S0888754301966510
Defining the autism minimum candidate gene region on chromosome 7
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.10033
Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors
https://ovidsp.ovid.com/redirect.cgi?T=JS&CSC=Y&MODE=ovid&PAGE=fulltext&D=ovft&AN=00041444-200612000-00011&NEWS=n
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
https://www.nature.com/articles/4001004
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
https://www.nature.com/articles/5201315
Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder
https://ovidsp.tx.ovid.com/sp-3.33.0b/ovidweb.cgi?QS2=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
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
https://www.nature.com/articles/4001340
Autism spectrum disorders: Molecular genetic advances
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.30078
Genetic analysis of reelin gene (RELN) SNPs: No association with autism spectrum disorder in the Indian population
https://www.sciencedirect.com/science/article/pii/S0304394008008434
Reelin gene polymorphisms in the Indian population: A possible paternal 5′UTR‐CGG‐repeat‐allele effect on autism
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.30419
Genome-Wide Scan for Autism Susceptibility Genes
https://academic.oup.com/hmg/article/8/5/805/662414
Reelin gene variants and risk of autism spectrum disorders: An integrated meta‐analysis
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.32222
Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
https://www.nature.com/articles/mp2012126
Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome
https://www.nature.com/articles/ejhg2010238
Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population
https://link.springer.com/article/10.1631/jzus.B1300133
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders
https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-014-0054-y
Linkage and candidate gene studies of autism spectrum disorders in European populations
https://www.nature.com/articles/ejhg201069
Decoding the contribution of dopaminergic genes and pathways to autism spectrum disorder (ASD)
https://www.sciencedirect.com/science/article/pii/S0197018614000035
No association between the WNT2 gene and autistic disorder
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.10182
DECIPHERING THE GENETIC BASIS OF SPEECH AND LANGUAGE DISORDERS
https://www.annualreviews.org/doi/full/10.1146/annurev.neuro.26.041002.131144
Identification of a Novel Gene on Chromosome 7q11.2 Interrupted by a Translocation Breakpoint in a Pair of Autistic Twins
https://www.sciencedirect.com/science/article/pii/S0888754302968102
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes
https://link.springer.com/article/10.1007/s00439-015-1585-y
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25–q29 inversion in an individual with language delay
https://www.sciencedirect.com/science/article/pii/S0888754305000947
Genes related to s*x steroids, neural growth, and social–emotional behavior are associated with autistic traits, empathy, and Asperger syndrome
https://onlinelibrary.wiley.com/doi/full/10.1002/aur.80
Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder
https://www.sciencedirect.com/science/article/pii/S0304394002013381
Strategies for Autism candidate gene analysis
https://books.google.com.au/books?hl=en&lr=&id=TXl19OqiTOMC&oi=fnd&pg=PA48&dq=info:xeoqCxCvIsAJ:scholar.google.com/&ots=hS3k_-SbCN&sig=1j_u2Sh4vEcLeQKVwD--wDBnyDc =onepage&q&f=false
Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders
https://www.nature.com/articles/tp2016120
Genetic causes of syndromic and non‐syndromic autism
https://onlinelibrary.wiley.com/doi/full/10.1111/j.1469-8749.2009.03523.x
The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: From mouse to human
https://onlinelibrary.wiley.com/doi/full/10.1002/dev.21043
Association of the Homeobox Transcription Factor Gene ENGRAILED 2 with Autistic Disorder in Chinese Children
https://www.karger.com/Article/Abstract/123115
Association Analysis of Two Single-Nucleotide Polymorphisms of the RELN Gene with Autism in the South African Population
https://www.liebertpub.com/doi/full/10.1089/gtmb.2012.0212
FOXP 2: A gene for language and speech
https://www.banglajol.info/index.php/DUJL/article/view/4151
Genetic factors and epigenetic factors for autism: Endoplasmic reticulum stress and impaired synaptic function
https://onlinelibrary.wiley.com/doi/full/10.1042/CBI20090250
Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia
https://www.sciencedirect.com/science/article/pii/S0006322310001174
If you have any questions, please ask away.
UPDATE: If you would like to know the difference between ASD and mitochondrial dysfunction, as in the case of Hannah Polling, please ask. The two are vastly different.
