Family history (FH) studies have been used to quantify the heritable component of diseases for centuries. Genome-wide association studies (GWAS) in both coronary artery disease (CAD) and stroke have implicated several gene loci in these diseases and have shed light on biological mechanisms, but have not yet yielded fruit in terms of clinical application, partly because of the complexity of gene-gene and gene-environment interactions. Family history studies remain the most accessible way of measuring the inherited component of a disease and they represent the overall interaction between environmental and genetic factors. The current knowledge base for FH of stroke and CAD and disease correlates are evaluated. FH of stroke and CAD are inconsistently recorded in clinical practice, partly because of lack of data regarding family history of stroke and CAD in prospective population studies. Future FH studies are necessary to characterise the role of FH in prognosis and risk prediction of contemporary populations, but also to guide future studies of genetics and epigenetics. In this article, the study design and methodology of family history studies are reviewed. The Oxford Vascular Study (OXVASC) is an ongoing prospective, population-based study of CAD and stroke with very high levels of clinical ascertainment, which allows detailed study of FH, and has already shown important new findings. Such data may help to formulate improved risk prediction tools and to inform future GWAS.
© 2012 Blackwell Publishing Ltd.