Qualitative semi-parametric test for genetic associations in case-control designs under structured populations

Ann Hum Genet. 2003 May;67(Pt 3):250-64. doi: 10.1046/j.1469-1809.2003.00036.x.


Recently, statistical methods have been proposed using genomic markers to control for population stratification in genetic association studies. However, these methods either have unacceptable low power when population stratification becomes strong or cannot control for population stratification well under admixture population models. In this paper, we propose a semiparametric association test to detect genetic association between a candidate marker and a qualitative trait of interest in case-control designs. The performance of the test is compared to other existing methods through simulations. The results show that our method gives correct type I error rate both under discrete population models and admixture population models, and our method is robust to the extent of the population stratification. In most of the cases we considered, our method has higher power and, in some cases, substantially higher power than that of existing methods.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Case-Control Studies*
  • Genetic Markers
  • Genetics, Population*
  • Humans
  • Models, Statistical*


  • Genetic Markers