Thread by @IsCoolScience

Anti-Vaxers: Vaccines cause Autism

Also AntiVaxxers: Autism is not genetic

Despite: AUTS1 gene which has been mapped to chromosome 7q22.

Despite: AUTS3 gene which maps to chromosome 13q14.

Despite: AUTS4 gene which maps to chromosome 15q11.

Despite: AUTS6 gene which maps to chromosome 17q11.

Despite: AUTS7 gene which maps to chromosome 17q21.

Despite: AUTS8 gene which maps to chromosome 3q25-q27.

Despite: AUTS9 gene which maps to chromosome 7q31.

Despite: AUTS10 gene which maps to chromosome 7q36.

Despite: AUTS11 gene which maps to chromosome 1q41.

Despite: AUTS12 gene which maps to chromosome 21p13-q11.

Despite: AUTS13 gene which maps to chromosome 12q14.

Despite: AUTS14A gene which has been found in patients with a deletion of a region of 16p11.2.

Despite: AUTS14B gene which has been found in patients with a duplication of a region of 16p11.2.

Despite: AUTS15 gene associated with mutation in the CNTNAP2 gene on chromosome 7q35-q36.

Despite: AUTS16 gene associated with mutation in the SLC9A9 gene on chromosome 3q24.

Despite: AUTS17 gene associated with mutation in the SHANK2 gene on chromosome 11q13.

Despite: AUTS18 gene associated with mutation in the CHD8 gene on chromosome 14q11.

Despite: AUTS19 gene associated with mutation in the EIF4E gene on chromosome 4q23.

Despite: AUTSX1 gene associated with mutations in the NLGN3 gene.

Despite: AUTSX2 gene associated with mutations in NLGN4.

Despite: AUTSX3 gene associated with mutations in MECP2.

Despite: AUTSX4 gene ass’d with variation in the region on Xp22.11 containing the PTCHD1 gene.

Despite: AUTSX5 gene associated with mutations in the RPL10 gene.

Despite: AUTSX6 gene associated with mutation in the TMLHE gene.

Despite: AUTSX1 to AUTSX6 being X-linked hereditary.

Despite: AUTS4 being Autosomal Dominant.

Despite: AUT18 being Autosomal Dominant.

Despite: AUTSX1 being X-linked.

Despite: AUTSX2 being X-linked.

Despite: AUTSX3 being X-Linked.

Despite: AUTSX4 being X-linked recessive.

Despite: AUTSX5 being X-linked.

Despite: AUTSX6 being X-linked recessive.

Despite: In 40 pairs of twins, Ritvo et al. (1985) found a concordance rate for autism of 23.5% in dizygotic twins (4 of 17 pairs) and 95.7% in monozygotic twins (22 of 23 pairs).

Despite: By analysis of 99 autistic probands and their families, Bolton et al. (1994) found an increased familial risk for both autism & more broadly defined pervasive develop. disorders in sibs, 2.9% and 2.9%, which is ~75 times higher than the risk in the general population.

Despite: In 27 same-sex pairs of monozygotic twins and 20 dizygotic twins, Bailey et al. (1995) found that 60% of monozy. pairs were concordant for autism compared to 0% of dizy. pairs.

When they considered a broader spectrum of related cognitive or social abnormalities, 92% of monozy. pairs were concordant compared to 10% of dizygotic pairs.

Despite: Sandin et al. (2014) exam. the familial risk of autism in a population-based cohort of 2,049,973 Swedish children born 1982 to 2006. They identified 37,570 twin pairs; 2,642,064 full-sib pairs; 432,281 maternal & 445,531 paternal half-sib pairs; & 5,799,875 cousin pairs.

The ASD heritability was estimated to be 0.50 (95% CI, 0.45-0.56) and the autistic disorder heritability was estimated to 0.54 (95% CI, 0.44-0.64).

Sandin et al. (2014) concluded that among children in Sweden, the individual risk of ASD and autistic disorder increased with increasing genetic relatedness.

Despite: Iossifov et al. (2014) applied whole-exome sequencing to more than 2,500 simplex families each having a child with an autistic spectrum disorder. By comparing affected to unaffected sibs, Iossifov et al. (2014) showed that 13% of de novo missense mutations and 43% of de

novo likely gene-disrupting mutations contribute to 12% and 9% of diagnoses, respectively. Including CNVs, coding de novo mutations contribute to about 30% of all simplex and 45% of female diagnoses.

Despite: In a review, Jones et al. (2008) noted that the significant increase in the frequency with which autism spectrum disorders is diagnosed, from 4 per 10,000 in 1950 to 40 to 60 per 10,000 as of 2008, results from greater awareness, availability of services, and changes in

diagnostic criteria to include a broader spectrum of neurodevelopmental disorders, among others.

Despite: Regressive autism, characterized most prominently by a loss of language skills, has been attributed to environmental factors, particularly adverse reactions to vaccines; epidemiologic evidence, however, shows no association between vaccination and the rate of autism as

reviewed by the Institute of Medicine Immunization Safety Reviews (2001); see also Taylor et al. (2002).

Despite: Voineagu et al. (2011) demonstrated consistent differences in transcriptome organization between autistic and normal brain by gene coexpression network analysis.

Voineagu et al. (2011) further identified discrete modules of coexpressed genes associated with autism: a neuronal module enriched for known autism susceptibility genes.

Gilman et al. (2011) developed an analysis of genetic associations... genes forming the network are primarily related to synapse development, axon targeting, and neuron motility... was strongly related to genes previously implicated in autism & intellectual disability phenotypes.

Despite: Kong et al. (2012) sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. Forty-four of the probands had autistic spectrum disorder and 21 were schizophrenic.

Despite: King et al. (2013) found that topotecan, a topoisomerase-1 (TOP1; 126420) inhibitor, dose-dependently reduces the expression of extremely long genes in mouse and human neurons, including nearly all genes that are longer than 200 kb.

Expression of long genes is also reduced after knockdown of Top1 or Top2b in neurons, highlighting that both enzymes are required for full expression of long genes. By mapping RNA polymerase II density genomewide in neurons, King et al. (2013) found that this length-dependent

effect on gene expression was due to impaired transcription elongation. Interestingly, many high-confidence autism spectrum disorder candidate genes are exceptionally long and were reduced in expression after TOP1 inhibition.

King et al. (2013) concluded that chemicals and genetic mutations that impair topoisomerases could commonly contribute to autism spectrum disorders and other neurodevelopmental disorders.

Despite: Gamsiz et al. (2013) stating that their data supported an association between ROH burden and autism diagnosis in girls; however, they were not able to show that this effect was independent of low IQ. The authors also identified several autism candidate genes on the basis

of their being either a single gene that is within an ROH interval and that is recurrent in autism.

Despite: Parikshak et al. (2016) further demonstrated that a genetically defined subtype of ASD, chromosome 15q11.2-13.1 duplication syndrome (dup15q; 608636), shares the core transcriptomic signature observed in idiopathic ASD.

Parikshak et al. (2016) concluded that their findings illustrated how diverse genetic perturbations can lead to phenotypic convergence at multiple biologic levels in a complex neuropsychiatric disorder.

Despite: NLM stating that ASD has a tendency to run in families, but the inheritance pattern is usually unknown. People with gene changes associated with ASD generally inherit an increased risk of developing the condition, rather than the condition itself.

When ASD is a feature of another genetic syndrome, it can be passed on according to the inheritance pattern of that syndrome.

ghr.nlm.nih.gov/condition/auti…

Despite: Genetic Causes and Modifiers of Autism Spectrum Disorder, by Rylaarsdam and Gamboa (Aug 2019) stating that “Extensive genetic studies have revealed hundreds of genes linked to autism. Epidemiological investigations have begun to elucidate which environmental factors

might be contributing to risk, but there is a lot left to understand about how they interact with genetic predisposition to contribute to ASD etiology.”