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Modifier genes ?
- Question
- Hello,
for several weeks, I hear a lot about modifier genes.
Could you tell me more?
How far is the research?
Have they been identified?
- Answer
- Hello,
although cystic fibrosis (CF) is recognized as a single gene disorder, considerable phenotypical diversity exists among patients with the same CFTR mutations. Besides environmental factors, it has been shown that additional genetic modifiers contribute to this variability.
In France, a national study on CF modifier genes is conducted since 2006. More than 4,700 French CF patients are already participating; and inclusions are still underway. As similar studies are conducted in North-America (US and Canada), an international collaboration has been set up.
Three years ago, this international consortium has shown that a gene family encoding protein channels was associated with the risk of developing a meconium ileus at birth. At the end of 2015, an analysis of the genome of ~6400 CF patients (North-Americans and French) has been realized that showed several genetic loci associated with lung disease severity.
Identification of these modifier genes is a great challenge that should offer not only a way to distinguish those patients at risk of developing a more severe disease and to adapt a care accordingly, but also to better understand the physiopathological mechanisms of CF and enable the development of new drugs.
New analyses are underway to look for genes associated with other CF clinical features, such as diabetes and liver disease.
Best regards,
Dr. Harriet Corvol - 08.04.2016
