title: The relationship between homozygosity and the frequency of the most frequent allele.
abstract: Homozygosity is a commonly used summary of allele-frequency distributions at polymorphic loci. Because high-frequency alleles contribute disproportionately to the homozygosity of a locus, it often occurs that most homozygotes are homozygous for the most frequent allele. To assess the relationship between homozygosity and the highest allele frequency at a locus, for a given homozygosity value, we determine the lower and upper bounds on the frequency of the most frequent allele. These bounds suggest tight constraints on the frequency of the most frequent allele as a function of homozygosity, differing by at most 14 and having an average difference of 23 - pi(2)/18 approximately 0.1184. The close connection between homozygosity and the frequency of the most frequent allele-which we illustrate using allele frequencies from human populations-has the consequence that when one of these two quantities is known, considerable information is available about the other quantity. This relationship also explains the similar performance of statistical tests of population-genetic models that rely on homozygosity and those that rely on the frequency of the most frequent allele, and it provides a basis for understanding the utility of extended homozygosity statistics in identifying haplotypes that have been elevated to high frequency as a result of positive selection.
authors.affiliation: Department of Human Genetics, Center for Computational Medicine and Biology, and the Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109-2218, USA. rnoah@umich.edu
authors.forename: Noah A
authors.initials: NA
authors.lastname: Rosenberg
authors.forename: Mattias
authors.initials: M
authors.lastname: Jakobsson
mesh_terms: D005787:Gene Frequency; D005828:Genetics, Population; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D018895:Microsatellite Repeats; D015233:Models, Statistical; D011110:Polymorphism, Genetic