Power of genome-wide linkage disequilibrium testing by using microsatellite markers.
Linkage disequilibrium (LD) testing is often used in the search for disease genes. In this study, we developed a method for calculating the expected power of genome-wide LD testing by using microsatellite markers under the following assumptions: (1) microsatellite markers have unequally frequent alleles, (2) markers are equally spaced through the human genome, (3) the degree of LD between the disease variant and the marker decays gradually because of recombination and mutation, (4) the population frequency of the disease variant is low (e.g., 0.05), (5) a single-marker test is performed in a case-control study, and (6) the significance level is adjusted by the number of tests to avoid inflation of the type I error. Our calculations revealed a markedly higher power for microsatellite markers than for single nucleotide polymorphism (SNP) markers, even if more SNPs are analyzed, suggesting that the use of microsatellite markers is preferable to the use of SNPs for genome-wide screening under the above assumptions. This method will be helpful to researchers who design genome-wide LD testing with microsatellite markers.
Ohashi
Jun
J
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113-0033, Japan.|Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.
Tokunaga
Katsushi
K
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113-0033, Japan.
D000483:Alleles; D016022:Case-Control Studies; D002874:Chromosome Mapping; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D015810:Linkage Disequilibrium; D018895:Microsatellite Repeats; D008957:Models, Genetic; D015233:Models, Statistical; D020641:Polymorphism, Single Nucleotide
D005819:Genetic Markers