European population substructure: clustering of northern and southern populations

PLoS Genet. 2006 Sep 15;2(9):e143. doi: 10.1371/journal.pgen.0020143. Epub 2006 Jul 25.


Using a genome-wide single nucleotide polymorphism (SNP) panel, we observed population structure in a diverse group of Europeans and European Americans. Under a variety of conditions and tests, there is a consistent and reproducible distinction between "northern" and "southern" European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have >85% membership in the "southern" population; and most northern, western, eastern, and central Europeans have >90% in the "northern" population group. Ashkenazi Jewish as well as Sephardic Jewish origin also showed >85% membership in the "southern" population, consistent with a later Mediterranean origin of these ethnic groups. Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Arthritis, Rheumatoid / genetics
  • Cluster Analysis
  • Europe / ethnology
  • European Continental Ancestry Group / genetics*
  • Gene Frequency
  • Genetic Markers
  • Genetics, Population*
  • Humans
  • Jews / genetics
  • Lactase / deficiency
  • New York
  • Polymorphism, Single Nucleotide / genetics
  • Reproducibility of Results


  • Genetic Markers
  • Lactase