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American Journal of Epidemiology Advance Access originally published online on September 17, 2007
American Journal of Epidemiology 2007 166(12):1461-1467; doi:10.1093/aje/kwm234
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American Journal of Epidemiology © The Author 2007. Published by the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org.

PRACTICE OF EPIDEMIOLOGY

The Impact of Truncation and Missing Family Links in Population-based Registers on Familial Risk Estimates

Monica Leu, Kamila Czene and Marie Reilly

From the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

Correspondence to Dr. Marie Reilly, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Novels väg 12A/Box 281, SE171 77, Stockholm, Sweden (e-mail: marie.reilly{at}ki.se).

Received for publication April 2, 2007. Accepted for publication July 27, 2007.

Family history information is often incomplete in population-based disease registers because of truncation and/or missing family links. In this study, the authors simulated complete populations of related individuals with realistic age, family structure, and incidence rates. After mimicking the realities of register-based data, such as left truncation of family history and missing family links due to death, the authors explored recovery of familial association parameters from standard epidemiologic models. Truncation of family history produced almost no bias for a familial risk of 2 and 50 years of follow-up, but it had a dramatic impact when the familial risk was 10. The age distribution of disease and the magnitude of background incidence rates also affected family history loss and thus the magnitude of bias. One can safeguard against bias by starting follow-up later, with the number of registration years to be ignored in the analysis depending on the value of familial risk. The missing familial links due to death had no effect, except when there was differential mortality for cases with and without a family history of disease. In summary, truncation, and to a lesser extent missing family links, induces bias in familial risk estimates from population-based registers.

bias (epidemiology); familial risk; medical record linkage; missing data; registries


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