title: Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database.
abstract: Founder populations hold tremendous promise for mapping genes for complex traits, as they offer less genetic and environmental heterogeneity and greater potential for genealogical research. Not all founder populations are equally valuable, however. The Afrikaner population meets several criteria that make it an ideal population for mapping complex traits, including founding by a small number of initial founders that likely allowed for a relatively restricted set of mutations and a large current population size that allows identification of a sufficient number of cases. Here, we examine the potential to conduct genealogical research in this population and present initial results indicating that accurate genealogical tracing for up to 17 generations is feasible. We also examine the clinical similarities of schizophrenia cases diagnosed in South Africa and those diagnosed in other, heterogeneous populations, specifically the US. We find that, with regard to basic sample descriptors and cardinal symptoms of disease, the two populations are equivalent. It is, therefore, likely that results from our genetic study of schizophrenia will be applicable to other populations. Based on the results presented here, the history and current size of the population, as well as our previous analysis addressing the extent of background linkage disequilibrium (LD) in the Afrikaners, we conclude that the Afrikaner population is likely an appropriate founder population to map genes for schizophrenia using both linkage and LD approaches.
authors.affiliation: Human Neurogenetics Laboratory, The Rockefeller University, New York, New York 10021, USA. karayim@mail.rockefeller.edu
authors.forename: Maria
authors.initials: M
authors.lastname: Karayiorgou
authors.forename: Marie
authors.initials: M
authors.lastname: Torrington
authors.forename: Gonçalo R
authors.initials: GR
authors.lastname: Abecasis
authors.forename: Herman
authors.initials: H
authors.lastname: Pretorius
authors.forename: Brian
authors.initials: B
authors.lastname: Robertson
authors.forename: Sean
authors.initials: S
authors.lastname: Kaliski
authors.forename: Stephen
authors.initials: S
authors.lastname: Lay
authors.forename: Christina
authors.initials: C
authors.lastname: Sobin
authors.forename: Natalie
authors.initials: N
authors.lastname: Möller
authors.forename: S Laura
authors.initials: SL
authors.lastname: Lundy
authors.forename: Maude L
authors.initials: ML
authors.lastname: Blundell
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Gogos
authors.forename: J Louw
authors.initials: JL
authors.lastname: Roos
mesh_terms: D000328:Adult; D016208:Databases, Factual / Q000706:statistics & numerical data*; D005260:Female; D018703:Founder Effect; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009656:North America; D010375:Pedigree; D010641:Phenotype; D012559:Schizophrenia / Q000235:genetics*; D013019:South Africa / Q000208:ethnology