Accounting for epistasis in linkage analysis of general pedigrees

Yun Ju Sung, Ellen M. Wijsman

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Complex traits are generally believed to be influenced by multiple loci. Identification of loci involved in complex traits is more difficult for interacting than for additive loci. Here we describe an extension of the program lm_twoqtl in the package MORGAN to handle two quantitative trait loci (QTLs) with gene-gene interaction. We investigate whether parametric linkage analysis that accounts for such epistasis improves prospects for linkage detection and accuracy of localization of QTLs. Through use of simulated data we show that analysis that accounts for epistasis provides higher lod scores and better localization than does analysis without epistasis. In addition, we demonstrate that the difference between lod scores in the presence vs. absence of use of an interaction model in analysis is greater in extended than in nuclear pedigrees.

Original languageEnglish
Pages (from-to)144-152
Number of pages9
JournalHuman heredity
Issue number2
StatePublished - Feb 2007


  • Extended pedigrees
  • Lod score
  • Markov chain Monte Carlo
  • Multi-locus
  • Parametric (model-based) analysis


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