Genetic heterogeneity of Icelanders

Ann Hum Genet. 2003 Jan;67(Pt 1):5-16. doi: 10.1046/j.1469-1809.2003.00003.x.


Recently statements have been made about a special 'genetic homogeneity' of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations. The results show that Icelanders are among the most genetically heterogeneous Europeans by the mean number of nucleotide differences as well as by estimates of theta parameters of the neutral theory. The distribution of pairwise differences in general has the same shape as European populations and shows no evidence of bottlenecks of numbers in Iceland. The allelic frequency distribution of Iceland is relatively even with a large number of haplotypes at polymorphic frequencies contrasting with other countries. This is a signature of admixture during the founding or history of Iceland. Assumptions of models used to simulate number of haplotypes at sampling saturation for comparing populations are violated to different degrees by various countries. Anomalies identified in data in previous reports on Icelandic mtDNA variation appear to be due to errors in publicly accessible databases. This study demonstrates the importance of basing analyses on primary data so that errors are not propagated. Claims about special genetic homogeneity of Icelanders are not supported by evidence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Databases, Nucleic Acid
  • Ethnicity / genetics*
  • Genetic Heterogeneity*
  • Genetics, Population*
  • Humans
  • Iceland
  • Models, Genetic


  • DNA, Mitochondrial