Evidence map›Paper›PMID 20798349›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2010

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population.

Steven M Bray, Jennifer G Mulle, Anne F Dodd, Ann E Pulver, Stephen Wooding, Stephen T Warren

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed
5.5field-weighted citation impact, top 4% 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

84 citing papers in PubMed, 134 citations in OpenAlex.

  1. Trial
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  6. Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.Movement disorders : official journal of the Movement Disorder Society · 2025
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  18. Article
  19. Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  20. Gaucher disease protects against tuberculosis.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article

24 more citing papers are in PubMed but not listed here.

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

6 authors at 3 institutions in 1 country.

Steven M BrayDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Jennifer G Mulle
Anne F Dodd
Ann E Pulver
Stephen Wooding
Stephen T Warren
Emory University · USJohns Hopkins University · USThe University of Texas Southwestern Medical Center · US

Funding

Schizophrenia susceptibility by copy number variation in the AshkenazimR01MH080129 · NIMH · EMORY UNIVERSITY · PI WARREN, STEPHEN T. · 2007 to 2011
$3.4M
Bipolar I susceptibility by copy number variation in an isolated populationR01MH083722 · NIMH · EMORY UNIVERSITY · PI WARREN, STEPHEN T. · 2008 to 2011
$2.8M
NIMH NIH HHS MH080129NIMH NIH HHS MH083722NIMH NIH HHS R01 MH080129NIMH NIH HHS R01 MH083722
6 · The paper itself

Abstract

The Ashkenazi Jewish (AJ) population has long been viewed as a genetic isolate, yet it is still unclear how population bottlenecks, admixture, or positive selection contribute to its genetic structure. Here we analyzed a large AJ cohort and found higher linkage disequilibrium (LD) and identity-by-descent relative to Europeans, as expected for an isolate. However, paradoxically we also found higher genetic diversity, a sign of an older or more admixed population but not of a long-term isolate. Recent reports have reaffirmed that the AJ population has a common Middle Eastern origin with other Jewish Diaspora populations, but also suggest that the AJ population, compared with other Jews, has had the most European admixture. Our analysis indeed revealed higher European admixture than predicted from previous Y-chromosome analyses. Moreover, we also show that admixture directly correlates with high LD, suggesting that admixture has increased both genetic diversity and LD in the AJ population. Additionally, we applied extended haplotype tests to determine whether positive selection can account for the level of AJ-prevalent diseases. We identified genomic regions under selection that account for lactose and alcohol tolerance, and although we found evidence for positive selection at some AJ-prevalent disease loci, the higher incidence of the majority of these diseases is likely the result of genetic drift following a bottleneck. Thus, the AJ population shows evidence of past founding events; however, admixture and selection have also strongly influenced its current genetic makeup.

Indexed as

Genetics, PopulationSelection, GeneticChromosomes, HumanGenetic VariationHumansJewsLinkage Disequilibrium

Identifiers

PMID20798349
PMCPMC2941333
OpenAlexW1963799703

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.