AJP: Genomics research reveals the risks associated with autism.

September 13, 2020 /--- -- Researchers at the University of Montreal have successfully developed a statistical model using bio-information tools to assess how the loss of genetic material affects the risk of autism.
the work was published in the journal American Journal of Psython.
study found that in addition to the genetic mutations officially associated with autism, there are thousands of genes in the human genome that help predict the risk and severity of autism.
(Photo Source: www.pixabay.com) found that the absence (loss) or repetition (gain) of parts of the genome, also known as copy number variation (CNV), may be associated with up to 20 percent of people with autism.
However, only a few CNVs can be classified as autistic-related genetic variants, most of which are still unknown in their physiological significance, and little information is available about the size of the impact of autism on cognitive and behavioral characteristics," explained the study's author, Dr. Sébastien Jacquemont.
Guillaume Huguet, a professor of technology, explained: "We recently developed a statistical model that can estimate the impact of CNV on IQ based on genetic scores.
then, we try to extend the model to a variety of cognitive behaviors related to autism."
statistical models, we can determine the effect of CNV on IQ.
specifically, the repetition of gene fragments has little effect on the risk of autism, while the absence of gene fragments can significantly affect their susceptivity.
model allows us to predict autism risk associated with any genome loss or repetition based on genetic scores.
" neurodevelopmental disorders, including autism, are major health problems around the world.
in Canada, one in 68 children is diagnosed with autism.
these diseases are accompanied by other combinations: in 19 to 48 percent of cases, for example, autism and intellectual disability are associated.
(bioon.com) Source: Studying the human genome to understand the risk of autism Original source: Fan Yang et al, A GABAergic neural circuit in the ventromedial hypothalamus mediates chronic stress-induced bone loss, Journal of Clinical Investigation (2020). DOI: 10.1172/JCI136105.