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Activity Number: 353
Type: Contributed
Date/Time: Tuesday, August 5, 2014 : 10:30 AM to 12:20 PM
Sponsor: Section on Statistics in Epidemiology
Abstract #313443
Title: Disentangling Pooled Triad Genotypes for Association Studies
Author(s): David M. Umbach*+ and Min Shi and Clarice Weinberg
Companies: NIEHS and National Institute of Environmental Health Sciences and NIEHS
Keywords: genetic association studies ; case-parents design ; specimen pooling
Abstract:

Association studies that genotype affected offspring and their parents offer inferences robust to genetic population structure. We study case-parents designs that use pooled DNA specimens created by randomly partitioning the case-parent triads into pooling sets of h triads each and forming three pools from every pooling set, one pool each for mothers, fathers, and offspring. Maximum-likelihood estimation of relative risk parameters proceeds via log-linear modeling using the expectation-maximization algorithm. Our approach can accommodate missing genotypes and genotyping errors while markedly reducing the number of required genotyping assays. We compared the power of our proposed analysis for testing offspring and maternal genetic effects to that of a difference-based approach considered by Lee and to that of the gold-standard based on individual genotypes, for a range of allele frequencies, missing father proportions and genotyping error rates. We found that, for small h, the pooling strategy caused only modest reductions in power if genotyping errors were low, while reducing genotyping costs and conserving limited specimens.


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