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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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A genetic association test through combining two independent tests.

Zhongxue Chen1, Qingzhong Liu2, Kai Wang3

  • 1Department of Epidemiology and Biostatistics, School of Public Health, Indiana University Bloomington, 1025 E. 7th street, Bloomington, IN 47405, USA.

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|July 17, 2018
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Summary

This study introduces a novel statistical test for identifying genetic variants linked to specific phenotypes. The new gene- and pathway-based approach demonstrates superior control over errors and enhanced statistical power compared to existing methods.

Keywords:
Burden testGene-setGenetic associationSKAT

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Area of Science:

  • Genetics
  • Statistical genetics
  • Bioinformatics

Background:

  • Gene- and pathway-based variant association tests are crucial for identifying genetic variants associated with phenotypes.
  • Existing statistical methods may lack sufficient power and robustness for comprehensive genetic association studies.

Purpose of the Study:

  • To propose a novel statistical test for gene- and pathway-based variant association analysis.
  • To enhance the power and robustness of detecting genetic associations with phenotypes of interest.

Main Methods:

  • Decomposition of genotype data into orthogonal components.
  • Utilization of independent p-value combination approaches.
  • Comparison with existing popular statistical tests through comprehensive simulations.

Main Results:

  • The proposed statistical test demonstrates excellent control of type I error rates.
  • The new test exhibits superior statistical power in detecting genetic associations.
  • Real data applications confirm the performance and utility of the proposed method.

Conclusions:

  • The developed statistical test offers a powerful and robust alternative for gene- and pathway-based variant association studies.
  • This method advances the field of genetic association analysis, aiding in the discovery of genotype-phenotype relationships.