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Statistical designs for familial aggregation

Department of Biostatistics, Johns Hopkins School of Public Health, Baltimore, Maryland, USA, kyliang{at}jhsph.edu

Terri H Beaty

Department of Epidemiology, Johns Hopkins School of Public Health, Baltimore, Maryland, USA

In the past two decades, it has become increasingly clear that genetic factors contribute to the aetiology of many common diseases including cancers, coronary disease, allergy and psychiatric disorders. While one goal of genetic epidemiological studies is to locate susceptibility genes for these complex diseases, it is important that strong evidence of familial aggregation be established at an early stage of research. In this paper, we discuss several study designs useful to address some issues such as (1) detecting familial aggregation, (2) testing for gene-environment interaction, (3) identifying homogeneous subgroups and (4) measuring magnitude and patterns of familial correlations. These designs include the conventional case-control design and the family case-control design. For each of these two study designs, we discuss analytical strategies as well as their strengths and weaknesses. Throughout, several examples from real studies are used for illustrative purposes.

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