ArticleEuropean journal of human genetics : EJHG2009
Isolated populations as treasure troves in genetic epidemiology: the case of the Basques.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- The Y chromosome of autochthonous Basque populations and the Bronze Age replacement.Scientific reports · 2021Article
- Article
- Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset.Scientific reports · 2017Article
- HLA imputation in an admixed population: An assessment of the 1000 Genomes data as a training set.Human immunology · 2016Article
- Demographic events and evolutionary forces shaping European genetic diversity.Cold Spring Harbor perspectives in biology · 2014Review
- Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.American journal of human genetics · 2013Article
- Article
- Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity.European journal of human genetics : EJHG · 2011Article
- High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations.Human genetics · 2010Article
- A genome-wide survey does not show the genetic distinctiveness of Basques.Human genetics · 2010Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Basques are a culturally isolated population, living across the western border between France and Spain and speaking a non-Indo-European language. They show outlier allele frequencies in the ABO, RH, and HLA loci. To test whether Basques are a genetic isolate with the features that would make them good candidates in genetic association studies, we genotyped 123 SNPs in a 1-Mb region in chromosome 22 in Basque samples from France and Spain, as well as in samples from northern and southern Spain, and in three North African samples. Both Basque samples showed similar levels of heterozygosity to the other populations, and the decay of linkage disequilibrium with physical distance was not different between Basques and non-Basques. Thus, Basques do not show the genetic properties expected in population isolates.
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Registered trials
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