Considerations for subgroups and phenocopies in complex disease genetics.

ABSTRACT: The number of identified genetic variants associated to complex disease cannot fully explain heritability. This may be partially due to more complicated patterns of predisposition than previously suspected. Diseases such as multiple sclerosis (MS) may consist of multiple disease causing mechanisms, each comprised of several elements. We describe how the effect of subgroups can be calculated using the standard association measurement odds ratio, which is then manipulated to provide a formula for the true underlying association present within the subgroup. This is sensitive to the initial minor allele frequencies present in both cases and the subgroup of patients. The methodology is then extended to the χ(2) statistic, for two related scenarios. First, to determine the true χ(2) when phenoco

SUBMITTER: Ramanujam R 

PROVIDER: S-EPMC3748062 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature