Extensive genome-wide autozygosity in the population isolates of Daghestan

Tatiana Karafet, Kazima B. Bulayeva, Oleg A. Bulayev, Farida Gurgenova, Jamilia Omarova, Levon Yepiskoposyan, Olga V. Savina, Krishna R. Veeramah, Michael F Hammer

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Isolated populations are valuable resources for mapping disease genes, as inbreeding increases genome-wide homozygosity and enhances the ability to map disease alleles on a genetically uniform background within a relatively homogenous environment. The populations of Daghestan are thought to have resided in the Caucasus Mountains for hundreds of generations and are characterized by a high prevalence of certain complex diseases. To explore the extent to which their unique population history led to increased levels of inbreeding, we genotyped >550 000 autosomal single-nucleotide polymorphisms (SNPs) in a set of 14 population isolates speaking Nakh-Daghestanian (ND) languages. The ND-speaking populations showed greatly elevated coefficients of inbreeding, very high numbers and long lengths of Runs of Homozygosity, and elevated linkage disequilibrium compared with surrounding groups from the Caucasus, the Near East, Europe, Central and South Asia. These results are consistent with the hypothesis that most ND-speaking groups descend from a common ancestral population that fragmented into a series of genetic isolates in the Daghestanian highlands. They have subsequently maintained a long-term small effective population size as a result of constant inbreeding and very low levels of gene flow. Given these findings, Daghestanian population isolates are likely to be useful for mapping genes associated with complex diseases.

Original languageEnglish (US)
Pages (from-to)1405-1412
Number of pages8
JournalEuropean Journal of Human Genetics
Volume23
Issue number10
DOIs
StatePublished - Oct 22 2015

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Karafet, T., Bulayeva, K. B., Bulayev, O. A., Gurgenova, F., Omarova, J., Yepiskoposyan, L., Savina, O. V., Veeramah, K. R., & Hammer, M. F. (2015). Extensive genome-wide autozygosity in the population isolates of Daghestan. European Journal of Human Genetics, 23(10), 1405-1412. https://doi.org/10.1038/ejhg.2014.299