title: Extensive linkage disequilibrium in small human populations in Eurasia.
abstract: The extent of linkage disequilibrium (LD) was studied in two small food-gathering populations-Evenki and Saami-and two larger food-producing populations-Finns and Swedes-in northern Eurasia. In total, 50 single-nucleotide polymorphisms (SNPs) from five genes were genotyped using real-time pyrophosphate DNA sequencing, whereas 14 microsatellites were genotyped in two X-chromosomal regions. In addition, hypervariable region I of the mtDNA was sequenced to shed light on the demographic history of the populations. The SNP data, as well as the microsatellite data, reveal extensive levels of LD in Evenki and Saami when compared to Finns and Swedes. mtDNA-sequence variation is compatible with constant population size over time in Evenki and Saami but indicates population expansion in Finns and Swedes. Furthermore, the similarity between Finns and Swedes in SNP allele- and haplotype-frequency distributions indicate that these two populations may share a recent common origin. These findings suggest that populations such as the Evenki and the Saami, rather than the Finns, may be particularly suited for the initial coarse mapping of common complex diseases.
authors.affiliation: Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
authors.forename: Henrik
authors.initials: H
authors.lastname: Kaessmann
authors.forename: Sebastian
authors.initials: S
authors.lastname: Zöllner
authors.forename: Anna C
authors.initials: AC
authors.lastname: Gustafsson
authors.forename: Victor
authors.initials: V
authors.lastname: Wiebe
authors.forename: Maris
authors.initials: M
authors.lastname: Laan
authors.forename: Joakim
authors.initials: J
authors.lastname: Lundeberg
authors.forename: Mathias
authors.initials: M
authors.lastname: Uhlén
authors.forename: Svante
authors.initials: S
authors.lastname: Pääbo
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics*; D005387:Finland; D005523:Food Supply; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D005914:Globins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018401:Sample Size; D012800:Siberia; D013548:Sweden; D014960:X Chromosome / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D005914:Globins; D008071:Lipoprotein Lipase; D007703:Peptidyl-Dipeptidase A