Genome-wide conditional search for epistatic disease-predisposing variants in human association studies.

ABSTRACT: Genome-wide search for new disease variants, based on well-established variants, has a long history in linkage analysis but is less well-known in genetic case-control association studies. We developed a simple yet highly efficient conditional search method that can find new variants, which are associated with a disease only through epistatic interaction with another variant and do not necessarily have a direct association effect. Our approach is analogous to partitioning of chi(2) in a hierarchical design, which is a well-established statistical technique. Applied to previously published data on age-related macular degeneration, our method found two single-nucleotide polymorphisms with genome-wide significant epistatic interaction that could not be found based only on direct main effects.

SUBMITTER: Wang G 

PROVIDER: S-EPMC2912644 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature