Evidence map›Paper›PMID 18251999›Full record

ArticleBMC genetics2008

Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping.

Adam B Olshen, Bert Gold, Kirk E Lohmueller, Jeffery P Struewing, Jaya Satagopan, Stefan A Stefanov, Eleazar Eskin, Tomas Kirchhoff, James A Lautenberger, Robert J Klein and 9 more

Open access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
4.8field-weighted citation impact, top 5% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Pharmacogenetics in Jewish populations.Drug metabolism and drug interactions · 2014
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population.Proceedings of the National Academy of Sciences of the United States of America · 2010
    Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article
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

19 authors at 7 institutions in 2 countries.

Adam B OlshenSurgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. olshena@mskcc.org
Bert Gold
Kirk E Lohmueller
Jeffery P Struewing
Jaya Satagopan
Stefan A Stefanov
Eleazar Eskin
Tomas Kirchhoff
James A Lautenberger
Robert J Klein
Eitan Friedman
Larry Norton
Nathan A Ellis
Agnes Viale
Catherine S Lee
Patrick I Borgen
Andrew G Clark
Kenneth Offit
Jeff Boyd
Memorial Sloan Kettering Cancer Center · USNational Cancer Institute · USCornell University · USNational Human Genome Research Institute · USTel Aviv University · ILUniversity of California, San Diego · USUniversity of Chicago · US

Funding

Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
NHLBI NIH HHS K25 HL080079
6 · The paper itself

Abstract

backgroundGenetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups.

resultsA small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ.

conclusionLD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure.

Indexed as

Genetic VariationGenotypeLinkage DisequilibriumPolymorphism, Single NucleotideChromosome MappingFemaleGene FrequencyHaplotypesHomozygoteHumansJewsPrincipal Component Analysis

Identifiers

PMID18251999
PMCPMC2259380
OpenAlexW2116526365

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.