Susceptibility genes and modifier genes are two biologic phenomenathat few clinicians should ignore in the genome era. Susceptibilitygenes, which are genes with functional variants that affectthe causes of disease, are routinely being identified for simplemendelian diseases and, more recently, for common genetic disorders.Modifier genes are distinct from susceptibility genes, in thatthey are genetic variants that affect the clinical manifestationof disease (as opposed to liability). However, the identificationof modifier genes has proven elusive.
Since the discovery of mutations in the cystic fibrosis transmembraneconductance regulator (CFTR) gene in 1989,1 considerable efforts. . . [Full Text of this Article]
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From the Meakins-Christie Laboratories (C.K.H.), Departments of Medicine and Human Genetics (C.K.H., T.J.H.), and the Genome Quebec Innovation Centre (T.J.H.), McGill University — all in Montreal.
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