title: Association testing in a linked region using large pedigrees.
abstract: 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.
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA 90095-7088, USA. rcantor@mednet.ucla.edu
authors.forename: Rita M
authors.initials: RM
authors.lastname: Cantor
authors.forename: Gary K
authors.initials: GK
authors.lastname: Chen
authors.forename: Päivi
authors.initials: P
authors.lastname: Pajukanta
authors.forename: Kenneth
authors.initials: K
authors.lastname: Lange
mesh_terms: D005260:Female; D005387:Finland; D008040:Genetic Linkage; D015894:Genome, Human; D023281:Genomics / Q000706:statistics & numerical data*; D006239:Haplotypes; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000235:genetics; D008126:Lod Score; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012984:Software