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Properties of the multiallelic trend test.

Wendy Czika1, B S Weir

  • 1SAS Institute, S-4050 SAS Campus Drive, Cary, North Carolina 27513, USA. wendy.czika@sas.com

Biometrics
|March 23, 2004
PubMed
Summary

The multiple-allele Armitage

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Area of Science:

  • Population genetics
  • Genetic epidemiology

Background:

  • Mapping disease genes relies on association studies between genetic markers and disease status.
  • Case-control designs are advantageous for genetic association studies as they do not require multi-generational data.
  • The impact of multiple alleles at marker loci on the power of association tests remains debated.

Purpose of the Study:

  • To investigate the power of the multiple-allele version of Armitage's trend test compared to the two-allele version.
  • To evaluate the validity of the trend test under conditions of Hardy-Weinberg disequilibrium.
  • To assess the influence of linkage disequilibrium on association test results.

Main Methods:

  • Analysis of Armitage's trend test for genetic association studies.
  • Comparison of power between two-allele and multiple-allele versions of the trend test.
  • Simulation of genetic data to illustrate the effects of Hardy-Weinberg disequilibrium and linkage disequilibrium.

Main Results:

  • The multiple-allele Armitage's trend test demonstrates increased power over the two-allele version when alleles are equifrequent.
  • This power increase is not guaranteed in general allele frequency distributions.
  • The trend test remains valid even when the population deviates from Hardy-Weinberg equilibrium.

Conclusions:

  • The multiple-allele trend test can enhance the power of genetic association studies under specific allele frequency conditions.
  • The robustness of the trend test to Hardy-Weinberg disequilibrium is a significant advantage.
  • Understanding linkage disequilibrium is crucial for interpreting association test results in non-equilibrium populations.

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