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Updated: Aug 11, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
New estimator of the genotype risk ratio for use in case-parental control studies
1Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA. wflande@sph.emory.edu
Abstract:
Estimation of the genotype risk ratio can be an important part of studying the role of genetics in disease causation. For example, one might estimate risk among persons with genotype DD compared with risk among those with genotype Dd, where the candidate locus has alleles D and d, with D representing the disease susceptibility allele. In this paper, the authors propose a modified method of analysis for case-parental control studies that can improve efficiency. They show how investigators can use information from families in which both parents are observed to improve the estimator created by Sun et al., which applies when only one parent and an affected offspring have been observed. Since this information is not used by the conditional approach of Schaid and Sommer, the authors' approach allows for more complete use of available information, leading to a smaller mean squared error of the genotype risk ratio estimators. The authors also suggest a way to combine estimates from families in which one parent and one offspring are observed and estimates from families in which both parents and one offspring are observed.
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