Association testing in a linked region using large pedigrees

Am J Hum Genet. 2005 Mar;76(3):538-42. doi: 10.1086/428628. Epub 2005 Jan 18.


This report describes computer implementation of a scheme for joint linkage and association analysis. The model implemented in the computer package Mendel estimates both recombination and linkage-disequilibrium parameters and conducts likelihood-ratio tests for (1) linkage alone, (2) linkage and association simultaneously, and (3) association in the presence of linkage. Application of the method to data from Finnish pedigrees with familial combined hyperlipidemia illustrates its potential for identification of associated SNP haplotypes in the presence of linkage. For the test results to be valid, good estimates of haplotype frequencies must be used in the analysis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Female
  • Finland
  • Genetic Linkage*
  • Genome, Human
  • Genomics / statistics & numerical data*
  • Haplotypes
  • Humans
  • Hyperlipidemia, Familial Combined / genetics
  • Lod Score
  • Male
  • Models, Genetic
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Software