Case-control and case-only designs with genotype and family history data: estimating relative risk, residual familial aggregation, and cumulative risk |
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Authors: | Chatterjee Nilanjan Kalaylioglu Zeynep Shih Joanna H Gail Mitchell H |
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Affiliation: | Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, 6210 Executive Boulevard, Rockville, Maryland 20852, USA. chattern@mail.nih.gov |
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Abstract: | In case-control studies of inherited diseases, participating subjects (probands) are often interviewed to collect detailed data about disease history and age-at-onset information in their family members. Genotype data are typically collected from the probands, but not from their relatives. In this article, we introduce an approach that combines case-control analysis of data on the probands with kin-cohort analysis of disease history data on relatives. Assuming a marginally specified multivariate survival model for joint risk of disease among family members, we describe methods for estimating relative risk, cumulative risk, and residual familial aggregation. We also describe a variation of the methodology that can be used for kin-cohort analysis of the family history data from a sample of genotyped cases only. We perform simulation studies to assess performance of the proposed methodologies with correct and mis-specified models for familial aggregation. We illustrate the proposed methodologies by estimating the risk of breast cancer from BRCA1/2 mutations using data from the Washington Ashkenazi Study. |
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Keywords: | Ascertainment correction Copula model Kin–cohort Multivariate survival Penetrance |
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