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This article is part of the supplement: Genetic Analysis Workshop 13: Analysis of Longitudinal Family Data for Complex Diseases and Related Risk Factors

Open Access Proceedings

Genome-wide linkage analysis of systolic blood pressure: a comparison of two approaches to phenotype definition

Susan L Slager1* and Stephen J Iturria2

Author Affiliations

1 Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905 USA

2 Eli Lilly and Co., Indianapolis, Indiana 46285 USA

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BMC Genetics 2003, 4(Suppl 1):S13  doi:10.1186/1471-2156-4-S1-S13

Published: 31 December 2003


Problem 1 of the Genetic Analysis Workshop 13(GAW13) contains longitudinal data of cardiovascular measurements from 330 pedigrees. The longitudinal data complicates the phenotype definition because multiple measurements are taken on each individual. To address this complication, we propose an approach that uses generalized estimating equations to obtain residuals for each time point for each person. The mean residual is then taken as the new phenotype with which to use in a variance components linkage analysis. We compare our phenotype definition approach to an approach that first reduces the multiple measurements to a single measurement and then models these summary statistics as regression terms in a variance components analysis. For each approach, multipoint linkage analysis was performed using the residuals and the SOLAR computer program. Our results show little difference between the methods based on the LOD scores.