title: Worldwide F(ST) estimates relative to five continental-scale populations.
abstract: We estimate the population genetics parameter FST (also referred to as the fixation index) from short tandem repeat (STR) allele frequencies, comparing many worldwide human subpopulations at approximately the national level with continental-scale populations. FST is commonly used to measure population differentiation, and is important in forensic DNA analysis to account for remote shared ancestry between a suspect and an alternative source of the DNA. We estimate FST comparing subpopulations with a hypothetical ancestral population, which is the approach most widely used in population genetics, and also compare a subpopulation with a sampled reference population, which is more appropriate for forensic applications. Both estimation methods are likelihood-based, in which FST is related to the variance of the multinomial-Dirichlet distribution for allele counts. Overall, we find low FST values, with posterior 97.5 percentiles < 3% when comparing a subpopulation with the most appropriate population, and even for inter-population comparisons we find FST < 5%. These are much smaller than single nucleotide polymorphism-based inter-continental FST estimates, and are also about half the magnitude of STR-based estimates from population genetics surveys that focus on distinct ethnic groups rather than a general population. Our findings support the use of FST up to 3% in forensic calculations, which corresponds to some current practice.
authors.affiliation: UCL Genetics Institute, Darwin Building Gower Street, London, WC1E 6BT, UK. c.steele.11@ucl.ac.uk
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Steele
authors.forename: Denise Syndercombe
authors.initials: DS
authors.lastname: Court
authors.forename: David J
authors.initials: DJ
authors.lastname: Balding
mesh_terms: D005006:Ethnicity / Q000235:genetics; D053803:Forensic Genetics; D005787:Gene Frequency; D005828:Genetics, Population / Q000379:methods*; D006801:Humans; D016013:Likelihood Functions; D018895:Microsatellite Repeats; D008957:Models, Genetic; D044469:Racial Groups / Q000235:genetics; D017422:Sequence Analysis, DNA