Linkage, case-control association, and family-based association tests for complex disorders

BMC Proc. 2007;1 Suppl 1(Suppl 1):S43. doi: 10.1186/1753-6561-1-s1-s43. Epub 2007 Dec 18.

Abstract

We carried out an analysis of the Genetic Analysis Workshop 15 simulated Problem 3 data. We restricted ourselves to the present/absent phenotype. Linkage analysis revealed a very strong signal on chromosome 6. Association analysis revealed additional susceptible loci located on chromosomes 11 and 18. The latter two signals were subsequently verified with linkage analysis - but only after 20 replicates were pooled. Analysis of linkage disequilibrium patterns, in concert with family-based association tests, led us to infer the presence of a second chromosome 6 locus located in the vicinity of single-nucleotide polymorphisms 160-162. These analyses were carried out without knowledge of the model used to generate the simulation.