title: What is the significance of a significant TDT?
abstract: This note summarizes the development of the transmission/disequilibrium test (TDT). The initial purpose of the TDT procedure was to test for linkage between a genetic marker and a disease susceptibility locus when an association had been found between the two. An association between disease and marker had sometimes been taken to imply linkage. An association could, however, be due to population stratification even in the absence of linkage. In contrast, the outcome of the TDT is not affected by such stratification. Furthermore, when linkage is not in doubt, the TDT can, in some cases, also provide a test of association between marker and disease. We discuss these various matters in this paper.
authors.affiliation: Department of Biology, University of Pennsylvania, Philadelphia, PA 19104-6018, USA.
authors.forename: Warren J
authors.initials: WJ
authors.lastname: Ewens
authors.forename: Richard S
authors.initials: RS
authors.lastname: Spielman
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D040641:Quantitative Trait Loci / Q000235:genetics*