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."
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!
NTU scientists build new ultrasound device using 3-D printing technology
07.12.2016 | Nanyang Technological University
How to turn white fat brown
07.12.2016 | University of Pennsylvania School of Medicine
In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.
Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...
Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
07.12.2016 | Health and Medicine
07.12.2016 | Life Sciences
07.12.2016 | Health and Medicine