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Costs and benefits of environmental data in investigations of gene-disease associations

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Title: Costs and benefits of environmental data in investigations of gene-disease associations
Author: Luo, Hao
Degree Master of Science - MSc
Program Statistics
Copyright Date: 2012
Publicly Available in cIRcle 2012-08-29
Abstract: The inclusion of environmental exposure data may be beneficial, in terms of statistical power, to investigation of gene-disease association when it exists. However, resources invested in obtaining exposure data could instead be applied to measure disease status and genotype on more subjects. In a cohort study setting, we consider the tradeoff between measuring only disease status and genotype for a larger study sample and measuring disease status, genotype, and environmental exposure for a smaller study sample, under the ‘Mendelian randomization’ assumption that the environmental exposure is independent of genotype in the study population. We focus on the power of tests for gene-disease association, applied in situations where a gene modifies risk of disease due to particular exposure without a main effect of gene on disease. Our results are equally applicable to exploratory genome-wide association studies and more hypothesis-driven candidate gene investigations. We further consider the impact of misclassification for environmental exposures. We find that under a wide range of circumstances research resources should be allocated to genotyping larger groups of individuals, to achieve a higher power for detecting presence of gene-environment interactions by studying genedisease association.
URI: http://hdl.handle.net/2429/43080
Scholarly Level: Graduate

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