Family-based linkage disequilibrium tests using general pedigrees

Yin Yao Shugart, Lina Chen, Rui Li, Terri Beaty

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Linkage disequilibrium (LD) mapping has been established as a promising approach to identifying disease genes. The presence of a disease gene located near a marker locus may cause LD between the marker and the disease loci. In LD mapping, we assume that some of the affected individuals may have a common ancestor carrying the mutation and that mutation carriers are likely to share alleles at the markers loci close to the disease gene. This chapter reviews the concept of LD mapping and outlines the advantages and disadvantages of two LD mapping approaches capable of handling general pedigrees: the family-based association test (FBAT) and pseudomarker. In summary, the pseudomarker statistical approach and the FBAT approach are both expected to offer reasonable statistical power to detect genes underlying complex traits. However, when the pedigree structure is more complicated, or when the number of informative families is limited, the pseudomarker approach is anticipated to outperform FBAT.

Original languageEnglish (US)
Title of host publicationLinkage Disequilibrium and Association Mapping
Subtitle of host publicationAnalysis and Applications
EditorsAndrew R. Collins
Number of pages9
StatePublished - Aug 23 2007
Externally publishedYes

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745


  • FBAT
  • Family-based LD tests
  • LD mapping
  • Pseudomarker

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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