Abstract #301573

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JSM 2003 Abstract #301573
Activity Number: 219
Type: Contributed
Date/Time: Tuesday, August 5, 2003 : 9:00 AM to 10:50 AM
Sponsor: WNAR
Abstract - #301573
Title: Case Selection, Allele Discovery, and Power in Association Testing
Author(s): Jeffrey A. Longmate*+ and Garry Larson and Steve Sommer and Carolyn Buzin and Theodore Krontiris
Companies: City of Hope National Medical Center and City of Hope/Beckman and City of Hope National Medical Center and City of Hope National Medical Center and City of Hope National Medical Center
Address: 1500 East Duarte Rd., Duarte, CA, 91010-3012,
Keywords: human genetics ; case-control design ; size-biased sampling ; power and sample size ; mutation detection ; cancer
Abstract:

We describe and evaluate sampling strategies for allele discovery in support of candidate-gene association testing. In particular, we consider the sampling of affected siblings, using marker sharing at multiple loci to focus allele discovery efforts on the cases most likely to yield alleles associated with disease risk. The alleles discovered in this way can then be tested by case-control comparisons. The allele-discovery data can be included in the test along with allele-specific probe data, using a simple adjustment to allow for the fact that only cases were subjected to allele discovery. Study-design strategies are evaluated by an extension of the exemplary data method for power calculations, and are illustrated by our experience with a candidate gene that may play a role in cancer susceptibility.

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