Gene Regulation's Role in Predisposing Us to Common Diseases
Genetic disease risk between one individual and another are based on complex origins that may reflect differences in the genes or differences in the regions regulating these genes
Gene regulation means the decision
that a cell makes as to when,
where and at what level it
activates or suppresses
the expression of a gene.
In theory, two people could share
a gene that is perfectly identical
and yet shows differences in
their predisposition to a disease
- due to genetic differences
in 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 acience to understand all the genetic causes that can explain a 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 published in Nature Genetics, a study highlighting thousands of these genetic variants that seem to explain individual differences in gene expression.
For this work, researchers used samples of three different tissue types (adipose tissue [fat], skin and blood cells) collected from more than 800 homozygotic (identical) and dizygotic twins.
Panos Deloukas: "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. 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 involved in the
predisposition to certain diseases
including quantifying the contribution
of rare regulatory variants that were previously
impossible to identify by conventional analysis methods.
Emmanouil Dermitzakis: "Our work adds to those who have previously demonstrated the contribution of common variants in the predisposition to these disorders. 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."
Original article: http://www.eurekalert.org/pub_releases/2012-09/udg-anl083112.php