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Statistical tests of genetic association for case-control study designs
Journal article   Open access   Peer reviewed

Statistical tests of genetic association for case-control study designs

Kai Wang
Biostatistics (Oxford, England), Vol.13(4), pp.724-733
09/2012
DOI: 10.1093/biostatistics/kxs002
PMID: 22389176
url
https://doi.org/10.1093/biostatistics/kxs002View
Published (Version of record) Open Access

Abstract

The central theme in case-control genetic association studies is to efficiently identify genetic markers associated with trait status. Powerful statistical methods are critical to accomplishing this goal. A popular method is the omnibus Pearson's chi-square test applied to genotype counts. To achieve increased power, tests based on an assumed trait model have been proposed. However, they are not robust to model misspecification. Much research has been carried out on enhancing robustness of such model-based tests. An analysis framework that tests the equality of allele frequency while allowing for different deviation from Hardy-Weinberg equilibrium (HWE) between cases and controls is proposed. The proposed method does not require specification of trait models nor HWE. It involves only 1 degree of freedom. The likelihood ratio statistic, score statistic, and Wald statistic associated with this framework are introduced. Their performance is evaluated by extensive computer simulation in comparison with existing methods.
Data Interpretation, Statistical Quantitative Trait, Heritable Computer Simulation Gene Frequency Humans Polymorphism, Single Nucleotide Genome-Wide Association Study - methods Case-Control Studies

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