A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease

Joanna M. Biernacka, Heather J. Cordell

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

If a linkage signal can be fully accounted for by the association of a particular polymorphism with the disease, this polymorphism may be the sole causal variant in the region. On the other hand, if the linkage signal exceeds that explained by the association, different or additional directly associated loci must exist in the region. Several methods have been proposed for testing the hypothesis that association with a particular candidate single-nucleotide polymorphism (SNP) can explain an observed linkage signal. When several candidate SNPs exist, all of the existing methods test the hypothesis for each candidate SNP separately, by fitting the appropriate model for each individual candidate SNP. Here we propose a method that combines analyses of two or more candidate SNPs using a composite-likelihood approach. We use simulations to demonstrate that the proposed method can lead to substantial power increases over the earlier single SNP analyses.

Original languageEnglish (US)
Pages (from-to)644-650
Number of pages7
JournalEuropean Journal of Human Genetics
Volume17
Issue number5
DOIs
StatePublished - Jan 1 2009

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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