Autism risk genes linked to evolving brain

February 27, 2017, Yale University
Credit: CC0 Public Domain

Genetic variants linked to autism spectrum disorders (ASD) may have been positively selected during human evolution because they also contribute to enhanced cognition, a new Yale study suggests.

A genome-wide association study of ASD of more than 5,000 cases and an analysis of evolutionary gene selection showed that inherited variants linked to ASD were found under positive selection in larger numbers than would have been expected by chance.

The final version of the paper was published Feb. 27 in the journal PLOS Genetics.

Variants that have a large negative impact on reproductive success are generally eliminated from the population quickly. However, common variants that occur with high frequency but small effect can cumulatively have big impacts on complex inherited traits—both positive and negative. If variants provide a better chance of survival, they are positively selected, or tend to stay in the genome through generations.

"In this case, we found a strong positive signal that, along with , these variants are also associated with intellectual achievement," said Renato Polimanti, associate research scientist at Yale School of Medicine and VA Connecticut Health Center in West Haven, and first author of the paper.

For instance, many of the positively selected variants associated with ASD identified by the researchers were enriched for molecular functions related to creation of new neurons.

"It might be difficult to imagine why the large number of gene variants that together give rise to traits like ASD are retained in human populations—why aren't they just eliminated by evolution?" said Joel Gelernter, the Foundations Fund Professor of Psychiatry, professor of genetics and of neuroscience, and co-author. "The idea is that during evolution these variants that have positive effects on cognitive function were selected, but at a cost—in this case an increased risk of autism spectrum disorders."

Explore further: Personality traits and psychiatric disorders linked to specific genomic locations

Related Stories

Personality traits and psychiatric disorders linked to specific genomic locations

December 8, 2016
A meta-analysis of genome-wide association studies (GWAS) has identified six loci or regions of the human genome that are significantly linked to personality traits, report researchers at University of California San Diego ...

Genetic cause identified for previously unrecognized developmental disorder

December 22, 2016
An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these ...

Scientists ID genes connected to wellbeing, depression and neuroticism

April 19, 2016
An international group of more than 190 scientists who analyzed the genomes of 298,420 individuals have found genetic variants that may influence our sense of wellbeing, depression and neuroticism.

Largest study of its kind finds rare genetic variations linked to schizophrenia

November 22, 2016
Many of the genetic variations that increase risk for schizophrenia are rare, making it difficult to study their role in the disease. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan ...

Two research paths toward identifying schizophrenia risk genes

February 20, 2014
Schizophrenia has long been known to be highly heritable and is present in approximately 1% of the population. Researchers have been following two paths in their pursuit of identifying schizophrenia risk genes.

Recommended for you

Targeting the engine room of the cancer cell

June 18, 2018
Researchers at Columbia University Irving Medical Center (CUIMC) have developed a highly innovative computational framework that can support personalized cancer treatment by matching individual tumors with the drugs or drug ...

Scientists learn more about how gene linked to autism affects brain

June 18, 2018
New preclinical research shows a gene already linked to a subset of people with autism spectrum disorder is critical to healthy neuronal connections in the developing brain, and its loss can harm those connections to help ...

161 genetic factors for myopia identified

June 15, 2018
The international Consortium for Refractive Error and Myopia (CREAM) recently published the largest-ever genetic study of myopia in Nature Genetics. Researchers from the Gutenberg Health Study at the Medical Center of Johannes ...

Genetic disorder identified in children

June 15, 2018
A genetic defect affecting normal development in children has been identified by a study involving University of Queensland researcher and alumnus Professor David Coman.

Scientists discover biomarker for flu susceptibility

June 13, 2018
Researchers at the Stanford University School of Medicine have found a way to predict whether someone exposed to the flu virus is likely to become ill.

Brain secrets that flow in our blood

June 13, 2018
Our blood can be used to uncover genetic secrets inside the brain, according to University of Queensland research.

1 comment

Adjust slider to filter visible comments by rank

Display comments: newest first

lchollick
not rated yet Feb 28, 2017
You have to be kidding! This article is a joke!!

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.