Conexiant
Login
  • The Analytical Scientist
  • The Cannabis Scientist
  • The Medicine Maker
  • The Ophthalmologist
  • The Pathologist
  • The Traditional Scientist
The Pathologist
  • Explore Pathology

    Explore

    • Latest
    • Insights
    • Case Studies
    • Opinion & Personal Narratives
    • Research & Innovations
    • Product Profiles

    Featured Topics

    • Molecular Pathology
    • Infectious Disease
    • Digital Pathology

    Issues

    • Latest Issue
    • Archive
  • Subspecialties
    • Oncology
    • Histology
    • Cytology
    • Hematology
    • Endocrinology
    • Neurology
    • Microbiology & Immunology
    • Forensics
    • Pathologists' Assistants
  • Training & Education

    Career Development

    • Professional Development
    • Career Pathways
    • Workforce Trends

    Educational Resources

    • Guidelines & Recommendations
    • App Notes

    Events

    • Webinars
    • Live Events
  • Events
    • Live Events
    • Webinars
  • Profiles & Community

    People & Profiles

    • Power List
    • Voices in the Community
    • Authors & Contributors
  • Multimedia
    • Video
    • Podcasts
Subscribe
Subscribe

False

The Pathologist / Issues / 2022 / Aug / Getting to the Genetic Core of Autism
Neurology Genetics and epigenetics Neurology Molecular Pathology

Getting to the Genetic Core of Autism

Investigating the genotype-phenotype relationship in autism to improve our understanding of heterogeneity

By Liv Gaskill 08/15/2022 News 2 min read

Share

The core diagnostic criteria for autism rely on overtly measurable characteristics that impact daily functioning. But therein lies a problem – the criteria can lead to significant differences in phenotypic features, support needs, or co-occurring conditions in individuals with autism diagnoses. This heterogeneity may come from multiple sources, but research into genotype-phenotype associations has been limited to small sample sizes with core autism features, as opposed to underlying latent features that could further inform our understanding of these associations. Additionally, the impact of common genetic variants on co-occurring developmental disabilities is poorly understood relative to those of rare de novo mutations. Intellectual disability can affect sex differences in autism, but the impact of common variants in autistic individuals of either sex, with or without intellectual disability, remains unknown.

DNA Image sourced from Pixabay.com

Recognizing these knowledge gaps, an international collaboration of researchers combined phenotypic data from autistic people to investigate genetic differences in features of autism, co-occuring developmental disabilities, and sex (1). They found an association between core factors and common, but not rare, genetic variants; they also identified a negative correlation between autism polygenic scores (PGS) and the likelihood of developmental disabilities. In those without co-occurring disability, PGS were inherited more in autistic females than in males, but the authors suggest this could be due to reduced single nucleotide polymorphism heritability of autism in females, meaning that higher PGS are needed to reach equivalent likelihood levels.

A second study highlights the negative correlation between genetic loads of rare and polygenic risk (with a greater impact in females) and the association between de novo mutations and symptom severity (2). Together, the studies demonstrate that characterizing the genotype-phenotype relationship can inform our understanding of heterogeneity in cognition, behavior, and co-occurring conditions in autistic individuals; however, deeper phenotyping at scale is needed along with an understanding of the evolving core diagnostic criteria.

Newsletters

Receive the latest pathology news, personalities, education, and career development – weekly to your inbox.

Newsletter Signup Image

References

  1. V Warrier et al., Nat Genet, [Online ahead of print] (2022). PMID: 35654973.
  2. D Antaki et al., Nat Genet, [Online ahead of print] (2022). PMID: 35654974.

About the Author(s)

Liv Gaskill

During my undergraduate degree in psychology and Master’s in neuroimaging for clinical and cognitive neuroscience, I realized the tasks my classmates found tedious – writing essays, editing, proofreading – were the ones that gave me the greatest satisfaction. I quickly gathered that rambling on about science in the bar wasn’t exactly riveting for my non-scientist friends, so my thoughts turned to a career in science writing. At Texere, I get to craft science into stories, interact with international experts, and engage with readers who love science just as much as I do.

More Articles by Liv Gaskill

Explore More in Pathology

Dive deeper into the world of pathology. Explore the latest articles, case studies, expert insights, and groundbreaking research.

False

Advertisement

Recommended

False

Related Content

Breathing New Life into Diagnostics
Genetics and epigenetics
Breathing New Life into Diagnostics

January 22, 2024

6 min read

Jonathan Edgeworth on how metagenomics could transform testing for respiratory infections

Molecular Spectacular
Genetics and epigenetics
Molecular Spectacular

January 8, 2024

1 min read

A look at last year’s most interesting molecular pathology stories

Redefining Diagnostic Reference Standards
Genetics and epigenetics
Redefining Diagnostic Reference Standards

January 3, 2022

1 min read

Find out what Horizon Discovery’s diagnostic reference standards can do for your workflow

Defining the Next Generation of NGS
Genetics and epigenetics
Defining the Next Generation of NGS

December 31, 2021

1 min read

Overcoming challenges of the typical NGS workflow with the Ion Torrent™ Genexus™ System

False

The Pathologist
Subscribe

About

  • About Us
  • Work at Conexiant Europe
  • Terms and Conditions
  • Privacy Policy
  • Advertise With Us
  • Contact Us

Copyright © 2025 Texere Publishing Limited (trading as Conexiant), with registered number 08113419 whose registered office is at Booths No. 1, Booths Park, Chelford Road, Knutsford, England, WA16 8GS.