Advances in Genetics

  1. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. Bai D, Yip, BHK, Windham, GC, et al. JAMA Psychiatry. 2019 Jul 17.

2. Identification of common genetic risk variants for autism spectrum disorder. Grove J, Ripke, S, Als, TD, et al. Nature Genetics. 2019 Mar;51(3):431-444.

3. Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. Ruzzo EK, Pérez-Cano L, Jung JY, et al. Cell. 2019 Aug 8;178(4):850-866.e26. 

“The first study examined genetic and environmental factors contributing to autism in Denmark, Finland, Sweden, Western Australia and Israel.

Estimates of additive genetic risk ranged from 51 percent in Finland to 87 percent in Israel and estimates of environmental risk ranged from 13 percent in Israel to 35 percent in Finland,” said Ed Cook, Earl M. Bane Professor of Psychiatry, Director of the Program for Neurodevelopmental Disorders and Director of the Division of Child and Adolescent Psychiatry at University of Illinois-Chicago College of Medicine.

The second study, by Grove and colleagues, reported the largest genetic study to date, looking for gene changes that are linked with autism. It included more than 18,000 subjects with autism and more than 27,000 control subjects.

“Five statistically significant loci were identified and relationships were found between polygenic scores for ASD and several other conditions, including ADHD and major depression,” Cook said.

Finally, Ruzzo and colleagues used a dataset featuring more detailed genetic information via whole genome sequencing looking for new genes that may contribute to autism.

They performed WGS on samples from the Autism Genetic Research Exchange, supported by Autism Speaks, of people with two or more affected siblings with autism spectrum disorder. “They also contrasted the biological effects of genes found in these multiplex families to genes implicated by findings in families with only one child with ASD,” Cook said.

Taken together, these three studies represent a shift toward larger datasets, whether through collaboration or through more detailed sequencing available with more sophisticated genetic tests like whole genome sequencing.
“ASD risk remains complex and multifactorial,” Cook said.


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2 respuestas a Advances in Genetics

  1. zortilonrel dijo:

    I do love the way you have framed this particular situation and it does offer us a lot of fodder for thought. On the other hand, coming from just what I have experienced, I simply trust as the feed-back stack on that folks stay on point and don’t get started on a tirade involving the news of the day. Yet, thank you for this fantastic piece and whilst I can not go along with this in totality, I value the standpoint.

  2. When I initially commented I clicked the «Notify me when new comments are added» checkbox and now each time a comment is added I get several emails with the same comment. Is there any way you can remove me from that service? Thanks a lot!

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