Autism Hazard in Males Linked to Y Chromosome

Summary: New research suggests that men may have higher rates of dementia on the Y chromosome, shifting the focus away from safe elements to the X gene. Researchers looked at genomic data to determine whether an extra Y chromosome was twice as likely to diagnose autism as opposed to an additional X chromosome, which had no impact on autism risk.

This finding provides a new path for analysis by highlighting the Y chromosome as a possible risk factor for adhd. Additional research is required to identify the specific Y chromosome components that increase dementia risk.

Important Facts:

  • The risk of dementia is twice as high for those who have an additional Y genome.
  • Contrary to earlier ideas, more X genomes do not raise dementia risk.
  • Findings indicate that male autism is more prevalent than male autism.

Origin: Geisinger Health System

A Geisinger Health System study has discovered that the increased risk of dementia appears to be related to the Y chromosome, giving a new reason for the greater occurrence of dementia in men.

The benefits are &nbsp, published&nbsp, in&nbsp, Nature Communications.

One popular thesis is that males and females have different sex chromosomes: standard women have two X genes, while standard males have one X and one Y gene. Credit: Neuroscience News

Autism spectrum disorder ( ASD ) is a neurodevelopmental condition characterized by impaired&nbsp, social interaction&nbsp, and communication, and restricted and repetitive patterns of behavior, interests and activities. Males and females are almost four times more likely than women, but the reason for this gap is not well understood.

One popular thesis involves the change in&nbsp, sexual chromosomes&nbsp, between men and females—typical females have two X chromosomes, while standard males have one X and one Y gene.

According to Matthew Oetjens, Ph. D.,” A leading theory in the field is that protective factors of the X chromosome lower autism risk in females.” D., associate professor at Geisinger’s Autism &amp, Developmental Medicine Institute.

The Geisinger research group, led by Dr. Oetjens and Alexander Berry, Ph. By examining ASD symptoms in people with an excessive amount of X or Y chromosomes, a genetic disorder known as sex chromosome aneuploidy, D., a team professor, looked at the effects of the X and Y chromosomes on dementia danger.

The team compared the data from the Simons Foundation Powering Autism Research ( SPARK) study and Geisinger’s MyCode Community Health Initiative to analyze genetic and ASD diagnosis data from 177, 416 patients.

They discovered that those with an additional X chromosome were twice as likely to have an ASD diagnosis as those with an additional Y chromosome, whereas those with an additional X chromosome were no longer at risk for ASD. This suggests that the Y chromosome has a risk factor, rather than the X chromosome, which is a protective factor.

” 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&nbsp, protective factors&nbsp, on the X chromosome”, Dr. Berry said. ” However, further research is needed to identify the specific risk factor associated with the Y chromosome”.

This analysis also confirms earlier research by demonstrating that a significant increase in ASD risk is associated with the loss of an X or Y chromosome, or Turner syndrome. Further research is needed to determine whether the ASD&nbsp, risk factors&nbsp, associated with sex chromosome aneuploidy explain the sex difference in ASD prevalence.

About this news article on autism and genetics

Author: Matthew Oetjens
Source: Geisinger Health System
Contact: Matthew Oetjens – Geisinger Health System
Image: The image is credited to Neuroscience News

Original Research: Open access.
Matthew Oetjens and colleagues report that” a genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk.” Nature Communications


Abstract

Evidence for Y chromosome dosage effects on autism risk has been provided by a genome-first study of sex chromosome aneuploidies.

A female protective effect has long been suggested as the main reason for the four-fold increase in male autism spectrum disorder ( ASD ) diagnoses compared to females. The significant difference in the prevalence of ASD between the sexes has not yet been fully explained by genetic and epidemiological studies of this hypothesis.

In order to understand this knowledge gap, we conducted an analysis of sex chromosome aneuploidy in a large ASD case-control cohort to examine the relationship between X and Y chromosome dosage and ASD risk.

From these data, we modeled three relationships between sex chromosome dosage and ASD risk: the extra Y effect, the extra X effect, and sex chromosome haploinsufficiency.

The extra Y effect, in our opinion, significantly increased ASD risk than the extra X effect.

We found a strong correlation between 45, X, and ASD among females, which supports the existence of sex chromosome haploinsufficiency as a significant risk factor for ASD.

These findings provide a framework for further research into the role of genomic factors in the observed sex difference in understanding the relationship between the X and Y chromosome dosage in ASD.

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