Increased risk for autism seems to be linked to the Y chromosome, a Geisinger study discovered, providing a brand new rationalization for the better prevalence of autism in males. The outcomes had been revealed as we speak in Nature Communications.
Autism spectrum dysfunction (ASD) is a neurodevelopmental situation characterised by impaired social interplay and communication, and restricted and repetitive patterns of conduct, pursuits and actions. ASD is sort of 4 occasions extra prevalent amongst males than females, however the motive for this disparity will not be properly understood.
One frequent speculation includes the distinction in intercourse chromosomes between women and men — typical females have two X chromosomes, whereas typical males have one X and one Y chromosome.
“A leading theory in the field is that protective factors of the X chromosome lower autism risk in females,” stated Matthew Oetjens, Ph.D., assistant professor at Geisinger’s Autism & Developmental Medicine Institute.
The Geisinger analysis crew, led by Dr. Oetjens and Alexander Berry, Ph.D., employees scientist, sought to decide the results of the X and Y chromosomes on autism risk by inspecting ASD diagnoses in folks with an irregular variety of X or Y chromosomes, a genetic situation referred to as intercourse chromosome aneuploidy.
The crew analyzed genetic and ASD analysis information on 177,416 sufferers enrolled within the Simons Foundation Powering Autism Research (SPARK) study and Geisinger’s MyCode Community Health Initiative. They discovered that people with an extra X chromosome had no change in ASD risk, however that these with an extra Y chromosome had been twice as probably to have an ASD analysis. This suggests a risk issue related to the Y chromosome as an alternative of a protecting issue related to the X chromosome.
“While these may seem like two sides of the same coin, our results encourage us to look for autism risk factors on the Y chromosome instead of limiting our search to protective factors on the X chromosome,” Dr. Berry stated. “However, further research is needed to identify the specific risk factor associated with the Y chromosome.”
This evaluation additionally confirms prior work by displaying that the lack of an X or Y chromosome, referred to as Turner syndrome, is related to a big enhance in ASD risk. Further analysis is required to decide whether or not the ASD risk elements related to intercourse chromosome aneuploidy explains the intercourse distinction in ASD prevalence.
