Findings Challenge Long-Held X Chromosome Theory and Offer New Direction for Autism Research
A new study published in Nature Communications by researchers at Geisinger suggests a significant link between the Y chromosome and the increased prevalence of autism spectrum disorder (ASD) in males, offering new insights into the condition’s genetic roots. Analyzing data from 177,416 individuals through the SPARK initiative and Geisinger’s MyCode Community Health Initiative, the study found that participants with an extra Y chromosome were twice as likely to be diagnosed with ASD. In contrast, those with an additional X chromosome showed no change in autism risk. These results challenge the long-standing “female protective effect” hypothesis, which suggests that females are less susceptible to autism due to protective elements on the X chromosome. Instead, the findings point toward specific risk factors linked to the Y chromosome. The study also reinforced previous research showing that losing an X or Y chromosome, as seen in Turner syndrome, significantly increases ASD risk. According to the lead author, the results shift the focus of future research toward identifying autism-related factors on the Y chromosome. These findings could reshape how researchers understand autism’s male prevalence and guide future efforts to identify more targeted interventions and support for the autism community.
