Combining the case-control methodology with the small size transmission/disequilibrium test for multiallelic markers

Eur J Hum Genet. 2005 Sep;13(9):1007-12. doi: 10.1038/sj.ejhg.5201453.

Abstract

Case-control studies compare marker-allele distributions in affected and unaffected individuals, and significant results may be due to linkage but can also simply reflect population structure. To test for linkage after obtaining a significant case-control finding, within-family analysis can be performed. In a transmission/disequilibrium test (TDT), genotypes of cases are compared to those of their parents to explore whether a specific allele, or marker, at a locus of interest is transmitted to a greater degree than Mendelian inheritance would warrant. For multiallelic markers, several authors have proposed extensions to the TDT. In this article, we propose a TDT test, utilizing the available information of a case-control study in the grouping of alleles for multiallelic markers, and thereby increase the statistical power of a TDT test with a small sample size.

Publication types

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

MeSH terms

  • Case-Control Studies*
  • Chromosome Mapping
  • Computer Simulation
  • Gene Frequency
  • Genetic Markers*
  • Genotype
  • Heredity
  • Humans
  • Linkage Disequilibrium*
  • Models, Genetic

Substances

  • Genetic Markers