Modifier genes in Mendelian disorders: the example of cystic fibrosis.

ABSTRACT: In the past three decades, scientists have had immense success in identifying genes and their variants that contribute to an array of diseases. While the identification of such genetic variants has informed our knowledge of the etiologic bases of diseases, there continues to be a substantial gap in our understanding of the factors that modify disease severity. Monogenic diseases provide an opportunity to identify modifiers as they have uniform etiology, detailed phenotyping of affected individuals, and familial clustering. Cystic fibrosis (CF) is among the more common life-shortening recessive disorders that displays wide variability in clinical features and survival. Considerable progress has been made in elucidating the contribution of genetic and nongenetic factors to CF. Allelic variat

SUBMITTER: Cutting GR 

PROVIDER: S-EPMC3040597 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature