A new light shed on genetic regulation's role in the predisposition to common diseases

By gene regulation we mean the decision that the cell makes as to when, where and at what level to activate or suppress the expression of a gene. In theory, two people could thus share a gene that is perfectly identical and yet show differences in their predisposition to a disease due to genetic differences concerning the regulation (overexpression or underexpression) of this same gene.

Numerous teams are currently trying to draw up a map of regions involved in gene regulation. Not an easy task, but invaluable since it allows us to understand all the genetic causes that can explain the predisposition to certain diseases.

Working with twins
Emmanouil Dermitzakis, Louis-Jeantet Professor at the Faculty of Medicine and member of the NCCR Frontiers in Genetics and the Institute of Genetics and Genomics of Geneva (IGE3), is a specialist in what is called the genetics of complex traits. With an international team co-led by Professor Tim Spector (Kings College), Professor Mark McCarthy (Oxford University) and Dr. Panos Deloukas (Wellcome Trust Sanger Institute), he publishes a study highlighting thousands of these genetic variants that seem to explain individual differences in gene expression.

For this work, the researchers used samples of three different tissue types (adipose tissue, skin and blood cells) collected from more than 800 homozygotic (identical) and dizygotic twins.

“Identifying variants which control the activity of many genes is a greater challenge than we anticipated but we are developing appropriate tools to uncover them and understand their contribution to disease,” comments Panos Deloukas. “Modern human genetics combined with samples donated by the participants in studies such as TwinsUK is making great strides towards finding the genetic culprits behind human disease.”

The method researchers followed allowed them to uncover nearly 358 variants apparently involved in the predisposition to certain diseases including quantifying the contribution of rare regulatory variants that was previously not possible to identify by conventional analysis methods.

“Our work adds to those who have previously demonstrated the contribution of common variants in the predisposition to these disorders”, explains Emmanouil Dermitzakis. “Thanks to this new level of knowledge, and if we manage to adapt this methodology to search for these variants in each individual, this will be a powerful tool to help prognose the predisposition to certain diseases and more importantly understand the biological aetiology in order to develop and employ individualized treatments.”

Media Contact

Emmanouil Dermitzakis EurekAlert!

More Information:

http://www.unige.ch

All latest news from the category: Life Sciences and Chemistry

Articles and reports from the Life Sciences and chemistry area deal with applied and basic research into modern biology, chemistry and human medicine.

Valuable information can be found on a range of life sciences fields including bacteriology, biochemistry, bionics, bioinformatics, biophysics, biotechnology, genetics, geobotany, human biology, marine biology, microbiology, molecular biology, cellular biology, zoology, bioinorganic chemistry, microchemistry and environmental chemistry.

Back to home

Comments (0)

Write a comment

Newest articles

Lighting up the future

New multidisciplinary research from the University of St Andrews could lead to more efficient televisions, computer screens and lighting. Researchers at the Organic Semiconductor Centre in the School of Physics and…

Researchers crack sugarcane’s complex genetic code

Sweet success: Scientists created a highly accurate reference genome for one of the most important modern crops and found a rare example of how genes confer disease resistance in plants….

Evolution of the most powerful ocean current on Earth

The Antarctic Circumpolar Current plays an important part in global overturning circulation, the exchange of heat and CO2 between the ocean and atmosphere, and the stability of Antarctica’s ice sheets….

Partners & Sponsors