Behavior Genetics

, Volume 32, Issue 2, pp 135–144

Power and Efficiency of the TDT and Case-Control Design for Association Scans


DOI: 10.1023/A:1015205924326

Cite this article as:
McGinnis, R., Shifman, S. & Darvasi, A. Behav Genet (2002) 32: 135. doi:10.1023/A:1015205924326


Sample size required for the TDT and the case-control designs was studied for marker-based genome-wide scans for disease association. The influence of various parameters on sample size required to attain a given level of power was analyzed in detail. Small genotypic relative risks, low levels of linkage disequilibrium, and departure from equal frequencies for the disease allele and associated marker allele, significantly and similarly increase sample size required by either the TDT or case-control design. Under the case-control paradigm, we show that the optimal strategy will often be to collect many more control individuals than disease cases with the optimal ratio depending on the relative cost of acquiring cases as compared to controls. For the TDT, the number of required simplex families is virtually equal to the number of cases required for similar power in case-control studies with an equal number of cases and controls. The case-control approach may therefore prove to be more economical and expeditious than the TDT design for diseases in which the cost and time required to collect simplex families is much greater than that needed to acquire isolated disease cases. Nevertheless, possible population stratification needs to be addressed when the case-control design is applied.

TDT case-control association complex traits genetic diseases 

Copyright information

© Plenum Publishing Corporation 2002

Authors and Affiliations

  1. 1.GlaxoSmithKline Pharmaceuticals, HarlowEssexUnited Kingdom
  2. 2.Department of Evolution Systematics and EcologyThe Hebrew University of JerusalemJerusalemIsrael
  3. 3.IDgene Pharmaceuticals Ltd.JerusalemIsrael