Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Adding up autism risks

15.10.2012
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".

Media contact
Dr Hilary Glover
Scientific Press Officer, BioMed Central
Tel: +44 (0) 20 3192 2370
Mob: +44 (0) 778 698 1967
Email: hilary.glover@biomedcentral.com
Notes
1. Common genetic variants, acting additively, are a major source of risk for autism 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 Jr, Kathryn Roeder and Bernie Devlin Molecular Autism (in press)

Please name the journal in any story you write. If you are writing for the web, please link to the article. All articles are available free of charge, according to BioMed Central's open access policy.

Article citation and URL available on request on the day of publication.

2. Molecular Autism is a peer-reviewed, online open access journal that publishes high-quality basic, translational and clinical research that has relevance to the etiology, pathobiology, or treatment of autism and related neurodevelopmental conditions. @MolecularAutism

3. BioMed Central (http://www.biomedcentral.com/) is an STM (Science, Technology and Medicine) publisher which has pioneered the open access publishing model. All peer-reviewed research articles published by BioMed Central are made immediately and freely accessible online, and are licensed to allow redistribution and reuse. BioMed Central is part of Springer Science+Business Media, a leading global publisher in the STM sector. @BioMedCentral

Dr Hilary Glover | EurekAlert!
Further information:
http://www.biomedcentral.com

More articles from Health and Medicine:

nachricht Bioinspired nanoscale drug delivery method developed by WSU, PNNL researchers
10.01.2019 | Washington State University

nachricht How herpesviruses shape the immune system
09.01.2019 | German Center for Infection Research

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Ultra ultrasound to transform new tech

World first experiments on sensor that may revolutionise everything from medical devices to unmanned vehicles

The new sensor - capable of detecting vibrations of living cells - may revolutionise everything from medical devices to unmanned vehicles.

Im Focus: Flying Optical Cats for Quantum Communication

Dead and alive at the same time? Researchers at the Max Planck Institute of Quantum Optics have implemented Erwin Schrödinger’s paradoxical gedanken experiment employing an entangled atom-light state.

In 1935 Erwin Schrödinger formulated a thought experiment designed to capture the paradoxical nature of quantum physics. The crucial element of this gedanken...

Im Focus: Nanocellulose for novel implants: Ears from the 3D-printer

Cellulose obtained from wood has amazing material properties. Empa researchers are now equipping the biodegradable material with additional functionalities to produce implants for cartilage diseases using 3D printing.

It all starts with an ear. Empa researcher Michael Hausmann removes the object shaped like a human ear from the 3D printer and explains:

Im Focus: Elucidating the Atomic Mechanism of Superlubricity

The phenomenon of so-called superlubricity is known, but so far the explanation at the atomic level has been missing: for example, how does extremely low friction occur in bearings? Researchers from the Fraunhofer Institutes IWM and IWS jointly deciphered a universal mechanism of superlubricity for certain diamond-like carbon layers in combination with organic lubricants. Based on this knowledge, it is now possible to formulate design rules for supra lubricating layer-lubricant combinations. The results are presented in an article in Nature Communications, volume 10.

One of the most important prerequisites for sustainable and environmentally friendly mobility is minimizing friction. Research and industry have been dedicated...

Im Focus: Mission completed – EU partners successfully test new technologies for space robots in Morocco

Just in time for Christmas, a Mars-analogue mission in Morocco, coordinated by the Robotics Innovation Center of the German Research Center for Artificial Intelligence (DFKI) as part of the SRC project FACILITATORS, has been successfully completed. SRC, the Strategic Research Cluster on Space Robotics Technologies, is a program of the European Union to support research and development in space technologies. From mid-November to mid-December 2018, a team of more than 30 scientists from 11 countries tested technologies for future exploration of Mars and Moon in the desert of the Maghreb state.

Close to the border with Algeria, the Erfoud region in Morocco – known to tourists for its impressive sand dunes – offered ideal conditions for the four-week...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Our digital society in 2040

16.01.2019 | Event News

11th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Aachen, 3-4 April 2019

14.01.2019 | Event News

ICTM Conference 2019: Digitization emerges as an engineering trend for turbomachinery construction

12.12.2018 | Event News

 
Latest News

A new twist on a mesmerizing story

17.01.2019 | Physics and Astronomy

Brilliant glow of paint-on semiconductors comes from ornate quantum physics

17.01.2019 | Materials Sciences

Drones shown to make traffic crash site assessments safer, faster and more accurate

17.01.2019 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>