Modifier Genes vs. Susceptibility Genes

The identification of gene modifiers may improve our ability to understand differences in the severity of disease.  Having such information may help guide decisions about therapy, for both patients and doctors.  The outcomes of a search for gene modifiers for cystic fibrosis are described by one of the authors:

"There are likely a number of gene modifiers in CF and other diseases, and this current paper describes one of the first robust examples," [Michael] Knowles said. "Some CF patients may do worse because of ’severe inflammation’ genes, whereas others may do worse because of differences in mucus genes. Still others might because of their growth and metabolism genes, etc… Thus, therapy might need to be targeted to a particular area or areas in individual patients. This is important not only for CF, but for other lung diseases as well because gene modifiers we discover in CF will be seen in other diseases, and there are already examples of that."

An editorial accompanying the article in the New England Journal of Medicine describes how modifier genes are different from susceptibility genes:

"Susceptibility genes and modifier genes are two biologic phenomena that few clinicians should ignore in the genome era. Susceptibility genes, which are genes with functional variants that affect the causes of disease, are routinely being identified for simple mendelian diseases and, more recently, for common genetic disorders. Modifier genes are distinct from susceptibility genes, in that they are genetic variants that affect the clinical manifestation of disease (as opposed to liability)…The identification of gene modifiers and their interactions in cystic fibrosis and other diseases has only just begun."

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Christina K. Haston and Thomas J. Hudson. "Finding Genetic Modifiers of Cystic Fibrosis" NEJM 353(14)1509-1511. October 6, 2005. (sorry subscribers only)

Drumm et al. "Genetic Modifiers of Lung Disease in Cystic Fibrosis" NEJM 353(14)1443-1453. October 6, 2005. (sorry subscribers only)

October 6, 2005 | Filed Under disease-management, education, variation 

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