Leveraging Family History in Case-Control Analyses of Rare Variation.

ABSTRACT: Standard methods for case-control association studies of rare variation often treat disease outcome as a dichotomous phenotype. However, both theoretical and experimental studies have demonstrated that subjects with a family history of disease can be enriched for risk variation relative to subjects without such history. Assuming family history information is available, this observation motivates the idea of replacing the standard dichotomous outcome variable used in case-control studies with a more informative ordinal outcome variable that distinguishes controls (0), sporadic cases (1), and cases with a family history (2), with the expectation that we should observe increasing number of risk variants with increasing category of the ordinal variable. To leverage this expectation, we propose

SUBMITTER: Solis-Lemus CR 

PROVIDER: S-EPMC7017020 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature