Hum Hered 2007;63:67–84

Detection of Gene × Gene Interactions in Genome-Wide Association Studies of Human Population Data

Musani S.K.a · Shriner D.a, b · Liu N.a · Feng R.a · Coffey C.S.c · Yi N.a, b · Tiwari H.K.a · Allison D.B.a, b
Sections onaStatistical Genetics and bResearch Methods and Clinical Trials, Department of Biostatistics, cClinical Nutrition Research Center, University of Alabama at Birmingham, Birmingham, Ala., USA
email Corresponding Author

 goto top of outline Key Words

  • Epistasis
  • Genome-wide association
  • Computational burden
  • Overfitting
  • Data sparsity
  • Methodological issues

 goto top of outline Abstract

Empirical evidence supporting the commonality of gene × gene interactions, coupled with frequent failure to replicate results from previous association studies, has prompted statisticians to develop methods to handle this important subject. Nonparametric methods have generated intense interest because of their capacity to handle high-dimensional data. Genome-wide association analysis of large-scale SNP data is challenging mathematically and computationally. In this paper, we describe major issues and questions arising from this challenge, along with methodological implications. Data reduction and pattern recognition methods seem to be the new frontiers in efforts to detect gene × gene interactions comprehensively. Currently, there is no single method that is recognized as the ‘best’ for detecting, characterizing, and interpreting gene × gene interactions. Instead, a combination of approaches with the aim of balancing their specific strengths may be the optimal approach to investigate gene × gene interactions in human data.

Copyright © 2007 S. Karger AG, Basel

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 goto top of outline Author Contacts

Solomon K. Musani
The Section on Statistical Genetics, Ryals Public Health Building Suite 517A
Department of Biostatistics, University of Alabama at Birmingham
Birmingham, AL 35294 (USA)
Tel. +1 205 975 9213, Fax +1 205 975 2540, E-Mail

 goto top of outline Article Information

Published online: February 2, 2007
Number of Print Pages : 18
Number of Figures : 1, Number of Tables : 1, Number of References : 138

 goto top of outline Publication Details

Human Heredity (International Journal of Human and Medical Genetics)

Vol. 63, No. 2, Year 2007 (Cover Date: February 2007)

Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (print), 1423–0062 (Online)

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