Evidence map›Paper›PMID 25604856›Full record

ArticleEuropean journal of human genetics : EJHG2015

Extensive genome-wide autozygosity in the population isolates of Daghestan.

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

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
4.0field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 32 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 3 countries.

Tatiana M KarafetARL Division of Biotechnology, University of Arizona, Tucson, AZ, USA.
Kazima B BulayevaVavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Oleg A BulayevVavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Farida GurgenovaVavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Jamilia OmarovaVavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Levon YepiskoposyanInstitute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia.
Olga V SavinaARL Division of Biotechnology, University of Arizona, Tucson, AZ, USA.
Krishna R VeeramahARL Division of Biotechnology, University of Arizona, Tucson, AZ, USA.
Michael F HammerARL Division of Biotechnology, University of Arizona, Tucson, AZ, USA.
University of Arizona · USRussian Academy of Sciences · RUVavilov Institute of General Genetics · RUNational Academy of Sciences of Armenia · AM

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

AsiaChromosome MappingConsanguinityEuropeGenome, HumanGenome-Wide Association StudyGenotypeHomozygoteHumansInbreedingLinkage DisequilibriumMiddle EastPolymorphism, Single Nucleotide

Identifiers

PMID25604856
PMCPMC4592092
OpenAlexW1983465646

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.