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November 2009 Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes
Nilanjan Chatterjee, Yi-Hau Chen, Sheng Luo, Raymond J. Carroll
Statist. Sci. 24(4): 489-502 (November 2009). DOI: 10.1214/09-STS297


Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the “retrospective” likelihood to gain major power by incorporating various population genetics model assumptions such as Hardy–Weinberg-Equilibrium (HWE), gene–gene and gene–environment independence. In this article we review these modern methods and contrast them with the more classical approaches through two types of applications (i) association tests for typed and untyped single nucleotide polymorphisms (SNPs) and (ii) estimation of haplotype effects and haplotype–environment interactions in the presence of haplotype-phase ambiguity. We provide novel insights to existing methods by construction of various score-tests and pseudo-likelihoods. In addition, we describe a novel two-stage method for analysis of untyped SNPs that can use any flexible external algorithm for genotype imputation followed by a powerful association test based on the retrospective likelihood. We illustrate applications of the methods using simulated and real data.


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Nilanjan Chatterjee. Yi-Hau Chen. Sheng Luo. Raymond J. Carroll. "Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes." Statist. Sci. 24 (4) 489 - 502, November 2009.


Published: November 2009
First available in Project Euclid: 20 April 2010

zbMATH: 1329.62421
MathSciNet: MR2779339
Digital Object Identifier: 10.1214/09-STS297

Rights: Copyright © 2009 Institute of Mathematical Statistics


Vol.24 • No. 4 • November 2009
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