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A major international collaboration led by researchers from the Danish project iPSYCH, Broad Institute of Harvard and MIT, Massachusetts General Hospital, SUNY Upstate Medical University and the Genomic Psychiatry Consortium for the first time identified genetic variants increasing risk of ADHD. The new findings provide a completely new insight into the biology of ADHD.
Our genes are very important for the development of mental disorders – including ADHD, where genetic factors capture up to 75% of the risk. Until now, the search for these genes has not yet yielded clear results. Researchers at the Consortium for Psychiatric Genomics have compared genetic variations across the genome of more than 20,000 people with ADHD and 35,000 others who do not suffer from it – by finding 12 sites where people presenting a particular genetic variant present an increased risk of ADHD compared to those who suffer from it. not the variant.
The results of the study have just been published in the scientific journal Nature Genetics.
"The large amount of data allowed us to find, for the first time, areas of the genome where people with ADHD are distinguished from those who are in good health." The search for such genetic variants of ADHD risk lasted a long time. decades, but without achieving robust results.This time, we have significantly increased the number of study topics, which has significantly increased the power to obtain conclusive results. , we have included a large number of people from the Danish cohort iPSYCH, accounting for more than 2/3 of the total sample of the international study, "says Associate. Professor Ditte Demontis from the University of Aarhus.
With Raymond Walters of Massachusetts General Hospital, she is the lead author of the study and is part of the ADHD group of the Consortium of Psychiatric Genomics, an international consortium of researchers dedicated to the discovery of genetic factors at the origin of ADHD.
These genetic discoveries provide new insights into the developmental biology of ADHD. For example, some genes play an important role in communication between brain cells, while others play an important role in cognitive functions such as language and learning.
"Overall, the results show that risk variants generally regulate the amount of expression of a gene and that affected genes are primarily expressed in the brain," says Professor Demontis.
The same genes affect impulsivity in healthy people
In this study, the researchers also compared the new findings to those of a genetic study of ongoing measures of ADHD behaviors in the general population. The researchers found that the same genetic variants that lead to a diagnosis of ADHD also affect the inattention and impulsivity of the general population.
"Risk variants are therefore very prevalent in the population, and the more you have, the more likely you are to have the same characteristics as ADHD, the greater the risk of developing ADHD," says Professor Anders Børglum. University of Aarhus. He is Director of Research at iPSYCH and one of the lead researchers who led the study alongside Professors Stephen Faraone of SUNY Upstate Medical University and Benjamin Neale of Massachusetts General Hospital and Broad Institute.
"We have also studied the genetic overlap with other diseases and traits, and as a result, we have found a strong negative genetic correlation between ADHD and education, which means that, on average, Genetic variants that increase the risk of ADHD also negatively affect the performance of the education system for people in the general population who carry these variants without having ADHD, "says Ditte Demontis.
In contrast, the study found a positive correlation between ADHD and obesity, an increased BMI, and type 2 diabetes, which means that variants that increase the risk of ADHD also increase the risk of developing ADHD. overweight and type 2 diabetes in the population.
"These results and results also underscore the importance of collaboration in advancing discovery efforts, but only through data sharing and collaboration have we been able to find these areas of the genome." says Dr. Benjamin Neale.
"The new findings mean that we now have, after many years of research, robust genetic discoveries that can shed light on the underlying biology and the role that genetics play in diseases and traits that often coincide with ADHD." An Important Basis for Further Research on ADHD We can now focus our studies to better understand how risk genes affect the development of ADHD in order to provide better support to people with ADHD, "says Anders Børglum. .
"We have laid the groundwork for future work that will clarify how genetic risks combine with environmental risks to cause ADHD.When pieces of this puzzle are assembled, researchers will be able to improve the diagnosis and management of ADHD." treatment of ADHD, "says Professor Stephen Faraone.
Search results – more information
Type of study: Genetic risk variants of ADHD can be found by examining the entire genome in a large number of people with ADHD and comparing them to healthy individuals. If a genetic variant turns out to be sufficiently common in people with ADHD compared to healthy people, researchers may conclude that the variant most likely affects the risk of suffering from the disease. A total of 20,183 people with ADHD and 35,191 control subjects were screened, including a substantial contribution from iPSYCH, who collected genetic information on 14,584 people with ADHD and 22,492 people in a control group .
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