Power analysis of C-TDT for small sample size genome-wide association studies by the joint use of case-parent trios and pairs

Comput Math Methods Med. 2013:2013:235825. doi: 10.1155/2013/235825. Epub 2013 May 2.

Abstract

In family-based genetic association studies, it is possible to encounter missing genotype information for one of the parents. This leads to a study consisting of both case-parent trios and case-parent pairs. One of the approaches to this problem is permutation-based combined transmission disequilibrium test statistic. However, it is still unknown how powerful this test statistic is with small sample sizes. In this paper, a simulation study is carried out to estimate the power and false positive rate of this test across different sample sizes for a family-based genome-wide association study. It is observed that a statistical power of over 80% and a reasonable false positive rate estimate can be achieved even with a combination of 50 trios and 30 pairs when 2% of the SNPs are assumed to be associated. Moreover, even smaller samples provide high power when smaller percentages of SNPs are associated with the disease.

MeSH terms

  • Computational Biology
  • Computer Simulation
  • Family
  • Female
  • Genome-Wide Association Study / statistics & numerical data*
  • Genotype
  • Humans
  • Male
  • Models, Statistical
  • Monte Carlo Method
  • Polymorphism, Single Nucleotide
  • Sample Size