Featured Research

from universities, journals, and other organizations

Adding up autism risks

Date:
October 15, 2012
Source:
BioMed Central Limited
Summary:
The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.

The contribution of inheritance and genetic mutation versus environmental factors to the risk of ASD is hotly debated. Most twin studies show the contribution heavily tilted toward inheritance, but the exact amount of involvement of genes in ASD risk is less apparent. This is because, while the impact of rare genetic variations on ASD risk is becoming clear, the role of more common variations, so called single nucleotide polymorphisms (SNP), remains unresolved.

In a vast project involving researchers across the USA, genetic data from families in the Simons Simplex Collection (where one child, but neither parent or any brothers or sisters, have ASD) and the Autism Genome Project (where one or more children were affected), was compared to families from the HealthABC program a cross section of the population).

By analyzing one million of the common variations in each participant's genome, it became clear that, in families where only one child is affected, 40% of the risk of ASD is inherited. In families where more than one child is affected this increased to over 60%. By looking in more detail at the unaffected parents and siblings of children with ASD it appeared that the inherited risk was additive.

Prof Bernie Devlin, from the University of Pittsburgh, explained, "Each of the common variations involved in ASD has little effect on its own, however our results show that they add up. This could explain why, while the parents might each not show any symptoms, their children receive enough of the risk versions to be affected."

Overall these results suggest that there are a large number of common variants each with a very small effect. Prof Devlin continued, "This is a large step forward in our understanding of ASD. The genetic components alone are far more complex than many imagined a decade ago, including the additive effects we have found, rare inherited mutations, and new mutations arising spontaneously before conception."

Editors-in-Chief, Drs. Buxbaum and Baron-Cohen noted that this study represents "An exceptionally important breakthrough in our understanding of autism risk." They also note that, "The interplay between common SNP and rare risk variants could be key to understanding the considerable differences in presentation seen among individuals with an autism spectrum condition."


Story Source:

The above story is based on materials provided by BioMed Central Limited. Note: Materials may be edited for content and length.


Journal Reference:

  1. Lambertus Klei, Stephan J Sanders, Michael T Murtha, Vanessa Hus, Jennifer K Lowe, A. Jeremy Willsey, Daniel Moreno-De-Luca, Timothy W Yu, Eric Fombonne, Daniel Geschwind, Dorothy E Grice, David H Ledbetter, Catherine Lord, Shrikant M Mane, Christa Lese Martin, Donna M Martin, Eric M Morrow, Christopher A Walsh, Nadine M Melhem, Pauline Chaste, James S Sutcliffe, Matthew W State, Edwin H Cook, Kathryn Roeder, Bernie Devlin. Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism, 2012; 3 (1): 9 DOI: 10.1186/2040-2392-3-9

Cite This Page:

BioMed Central Limited. "Adding up autism risks." ScienceDaily. ScienceDaily, 15 October 2012. <www.sciencedaily.com/releases/2012/10/121015085630.htm>.
BioMed Central Limited. (2012, October 15). Adding up autism risks. ScienceDaily. Retrieved April 25, 2014 from www.sciencedaily.com/releases/2012/10/121015085630.htm
BioMed Central Limited. "Adding up autism risks." ScienceDaily. www.sciencedaily.com/releases/2012/10/121015085630.htm (accessed April 25, 2014).

Share This



More Mind & Brain News

Friday, April 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Marijuana Use Lead To Serious Heart Problems?

Could Marijuana Use Lead To Serious Heart Problems?

Newsy (Apr. 24, 2014) A new study says marijuana use could lead to serious heart-related complications. Video provided by Newsy
Powered by NewsLook.com
Study Says Most Crime Not Linked To Mental Illness

Study Says Most Crime Not Linked To Mental Illness

Newsy (Apr. 22, 2014) A new study finds most crimes committed by people with mental illness are not caused by symptoms of their illness or disorder. Video provided by Newsy
Powered by NewsLook.com
How Smaller Plates And Cutlery Could Make You Feel Fuller

How Smaller Plates And Cutlery Could Make You Feel Fuller

Newsy (Apr. 22, 2014) NBC's "Today" conducted an experiment to see if changing the size of plates and utensils affects the amount individuals eat. Video provided by Newsy
Powered by NewsLook.com
Do We Get Nicer With Age?

Do We Get Nicer With Age?

Newsy (Apr. 22, 2014) A recent report claims personality can change over time as we age, and usually that means becoming nicer and more emotionally stable. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins