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Heterogeneity of the phenotypic definition of coronary artery disease and its impact on genetic association studies.


ABSTRACT:

Background

Variability in phenotypic characterization of coronary artery disease (CAD) may contribute to the heterogeneity of genetic association studies, and more consistency in phenotype definitions might improve replication of genetic associations. We assessed the extent of phenotypic heterogeneity and quantified its impact in a large literature sample of association studies.

Methods and results

We searched for large (≥15 studies) meta-analyses of genetic associations and reviewed all studies included therein. From each primary study, we extracted phenotypic definitions, demographics, study design characteristics, and genotypic data. For each association, we assessed the magnitude and heterogeneity of genetic effects within and across CAD phenotypes, using meta-analytic m

SUBMITTER: Kitsios GD 

PROVIDER: S-EPMC3048058 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature