Wednesday, June 29, 2022
No Result
View All Result
Medical Finance
  • Home
  • News
  • Interviews
  • Mediknowledge
  • Insights From Industry
  • Thought Leaders
  • Coronavirus
  • Whitepapers
  • Home
  • News
  • Interviews
  • Mediknowledge
  • Insights From Industry
  • Thought Leaders
  • Coronavirus
  • Whitepapers
No Result
View All Result
Medical Finance
No Result
View All Result
Home News

Combinations of multiple genetic factors play a role in the broad spectrum of autism

by Medical Finance
in News
Scientists discover a division of labor between genetic switches
9
SHARES
99
VIEWS
Share on FacebookShare on Twitter

Autism Spectrum Disorder (ASD) is referred to as a “spectrum” because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have offered clues, identifying genes associated with ASD, but despite finding many pieces to the puzzle, scientists have not yet figured out how they all fit together, and why there is such wide variation in ASD symptoms.

In a new study, published in the June 2, 2022 online issue of Nature Genetics, an international team of scientists, led by researchers at the University of California San Diego School of Medicine, report significant progress in understanding how the combined effects of rare mutations and common genetic variation determine whether a child will develop ASD.

We have known that the genetics of autism is complex, but we didn’t really have a picture of how genetic inheritance of rare and common variants works in families.”


Jonathan Sebat, PhD, senior study author, professor and chief of the Beyster Center for Molecular Genomics of Neuropsychiatric Diseases at UC San Diego School of Medicine

In the latest study, Sebat’s team analyzed the genomes of 37,375 individuals from 11,213 families in which at least one member (child or parent) had diagnosed ASD. The goal was to determine how combinations of genetic factors contribute to risk and clinical symptoms. The researchers looked at a variety of factors, such as de novo mutations, which are new genetic changes that occur for the first time in a child; rare variants that are inherited from the parents; and polygenic scores that quantify the genetic load of common variants of small effect.

“When you combine all the major factors that we can detect in a genome,” said Sebat, “the predictive value of DNA sequencing more than doubles compared to when you test just one category at time. Combining rare gene mutations with polygenic scores has the potential to make genetic testing more accurate.”

Sex is another major factor that influences autism risk. Males are diagnosed with ASD at ratio of 4 to 1 compared to females. In the new study, the authors showed that the lower prevalence of ASD in females is in part due to a “female protective effect” in which females have a greater tolerance for genetic risk than males. They found that the total genetic load was greater on average in females than in males, both in children with ASD and in their typically developing siblings. “Both rare variants and polygenic scores show evidence of a ‘female protective effect'”, said Sebat, “This suggests that the ‘liability threshold’ for autism differs by sex with females having a greater threshold than males.”

The researchers also looked at the effects of genetic factors on a variety of behaviors, including social communication, repetitive behaviors and motor coordination. They found that genetic factors influenced the severity of symptoms in children with ASD and in their typically developing siblings and parents. They also found that different factors were associated with different symptoms. Rare variants and polygenic scores had an influence on social communication, but only rare variants had an influence on motor coordination.

“The spectrum of symptom severity in ASD is attributable to a spectrum of genetic risk,” Sebat said. “People who meet diagnostic criteria for autism may be at one extreme, but these types of risk factors are present to varying degrees in all of us. We are all somewhere on a continuum.”

Finally, the authors found that different genetic factors have different patterns of gene expression in the developing brain. Genes implicated by rare variants were strongly enriched in neurons of the fetal brain. In contrast, genes implicated by common variants were more broadly expressed and were not dramatically enriched in specific cell types. These differences in brain expression may in part explain their associations with different traits.

Taken all together, wrote the authors, the different parts of the autism spectrum are attributable to each individual having their own a unique combination of genetic factors.

Source:

University of California – San Diego

Journal reference:

Antaki, D., et al. (2022) A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nature Genetics. doi.org/10.1038/s41588-022-01064-5.

Total
0
Shares
Share 0
Tweet 0
Pin it 0
Share 0
Medical Finance

Medical Finance

Related Posts

Bacterial biofilms use a developmental patterning mechanism seen in plants and animals

UMass Amherst assistant professor wins $1.4 million grant to engineer synthetic bacteria for water contaminant removal

by Medical Finance
June 29, 2022
0

Lauren Andrews, University of Massachusetts Amherst assistant professor and the Marvin and Eva Schlanger Faculty Fellow in the department of...

Why millions on Medicaid are at risk of losing coverage in the months ahead

Duke researchers identify role for key gene in developmental disability syndrome

by Medical Finance
June 29, 2022
0

A single gene that was previously found to be the driving force in a rare syndrome linked to epilepsy, autism...

PhoreMost and POLARISqb announce a multi-target collaboration to investigate next-generation cancer therapies

Scientists discover how to prevent T cell exhaustion to maintain the fight against cancer

by Medical Finance
June 28, 2022
0

When faced with a formidable foe for months on end, the immune system's T cells begin to tire. Whether fighting...

Cannabinoids may prevent infection with SARS-CoV-2, including variants

Cannabinoids may prevent infection with SARS-CoV-2, including variants

by Medical Finance
June 29, 2022
0

A new study published in the Journal of Natural Products of the American Chemical Society and American Society of Pharmacognosy...

Monitoring the presence of enteric pathogens in imported seafood

The Native Antigen Company Expands Range of Norovirus-Like Particles

by Medical Finance
June 28, 2022
0

The Native Antigen Company (part of LGC Clinical Diagnostics), one of the world’s leading suppliers of reagents that enables research into...

Ultra-rapid genome sequencing technology can detect rare genetic diseases in eight hours

Ultra-rapid genome sequencing technology can detect rare genetic diseases in eight hours

by Medical Finance
June 28, 2022
0

A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic...

Next Post
Novel targets for treating sorafenib-resistant hepatocellular carcinoma found using CRISPR-Cas9 screening

Protein produced by soft-tissue sarcomas makes immune cells ‘go bad’

Researchers create a DNA-based fluorescent nanoantenna to monitor the motions of proteins

First open-source program can improve detection and tracking of pathogenic DNA sequences

0 0 votes
Article Rating
Subscribe
Login
Notify of
guest
guest
0 Comments
Inline Feedbacks
View all comments

Support

  • Contact
  • Disclaimer
  • Home
  • Privacy Policy
  • Terms And Conditions

Categories

  • Coronavirus
  • Insights From Industry
  • Interviews
  • Mediknowledge
  • News
  • Thought Leaders
  • Whitepapers

More News

  • Study: Vaccination Against SARS-Cov-2 In UK School-Aged Children and Young People Decreases Infection Rates and Reduces COVID-19 Symptoms. Image Credit: Studio Romantic / Shutterstock.com
    Single dose of Pfizer vaccine reduces risk of SARS-CoV-2 infection in kids
  • Study: Development of a Novel Human CD147 Knock-in NSG Mouse Model to Test SARS-CoV-2 Viral Infection. Image Credit: Design_Cells / Shutterstock
    A novel mouse model to test SARS-CoV-2 viral infection
  • Home
  • Privacy Policy
  • Contact
  • Disclaimer
  • Terms And Conditions

© 2022 Medical Finance - Latest Financial and Business News

No Result
View All Result
  • Interviews
  • Mediknowledge
  • News
  • Insights From Industry
  • Coronavirus
  • Thought Leaders
  • Whitepapers
wpDiscuz
0
0
Would love your thoughts, please comment.x
()
x
| Reply