Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.

ABSTRACT: Cystic fibrosis (CF) is a monogenic disease due to mutations in the CFTR gene. Yet, variability in CF disease presentation is presumed to be affected by modifier genes, such as those recently demonstrated for the pulmonary aspect. Here, we conduct a modifier gene study for meconium ileus (MI), an intestinal obstruction that occurs in 16-20% of CF newborns, providing linkage and association results from large family and case-control samples. Linkage analysis of modifier traits is different than linkage analysis of primary traits on which a sample was ascertained. Here, we articulate a source of confounding unique to modifier gene studies and provide an example of how one might overcome the confounding in the context of linkage studies. Our linkage analysis provided evidence of a MI locus on

SUBMITTER: Dorfman R 

PROVIDER: S-EPMC2888886 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature