European Population Substructure: Clustering of Northern and Southern Populations

2006/09/12 by Michael F. Seldin, Russell Shigeta, Pablo Villoslada +6 · 5 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Forensic and Genetic Research #Genetic Mapping and Diversity in Plants and Animals #Biology #Population #European population #Genetics #Founder effect #Single-nucleotide polymorphism #Population genetics #Evolutionary biology #SNP #Demography #Geography #Haplotype #Genotype

paper · pdf · doi:10.1371/journal.pgen.0020143

openalex publication_date 2006/09/12 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/04

Abstract

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.

Citations

• Skin pigmentation, biogeographical ancestry and admixture mapping
• ESTIMATINGF-STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE
• Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe
• High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium
• Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area
• Genetic Structure of Human Populations
• Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene
• The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

Cited by

• The Geography of Jewish Ethnogenesis
• Genetic determinants of hair, eye and skin pigmentation in Europeans
• Accounting for ancestry: population substructure and genome-wide association studies
• Genetic composition of Brazilian population samples based on a set of twenty‐eight ancestry informative SNPs
• Ashkenazi Jews [wikipedia]