Evidence map›Paper›PMID 11078480›Full record

ArticleAmerican journal of human genetics2000

The extent of linkage disequilibrium in four populations with distinct demographic histories.

A M Dunning, F Durocher, C S Healey, M D Teare, S E McBride, F Carlomagno, C F Xu, E Dawson, S Rhodes, S Ueda and 10 more

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Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

58 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Imputing Phenotypes for Genome-wide Association Studies.American journal of human genetics · 2016
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Combined effects of multiple linked loci on pairwise sibling tests.International journal of legal medicine · 2017
    Article
  6. Colocalization of GWAS and eQTL Signals Detects Target Genes.American journal of human genetics · 2016
    Article
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  8. Article
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  11. Review
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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

20 authors.

A M DunningCRC Department of Oncology, University of Cambridge, Cambridge CB1 8RN, United Kingdom. alisond@srl.cam.ac.uk
F Durocher
C S Healey
M D Teare
S E McBride
F Carlomagno
C F Xu
E Dawson
S Rhodes
S Ueda
E Lai
R N Luben
E J Van Rensburg
A Mannermaa
V Kataja
G Rennart
I Dunham
I Purvis
D Easton
B A Ponder

Funding

Wellcome Trust
6 · The paper itself

Abstract

The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with minor allele frequencies >.1, since these are most comparable to the common disease-susceptibility polymorphisms that association studies aim to detect. The markers come from three chromosomal regions-1,335 kb on chromosome 13q12-13, 380 kb on chromosome 19q13.2, and 120 kb on chromosome 22q13.3-which have been extensively mapped. These markers were examined in approximately 1,600 individuals from four populations, all of European origin but with different demographic histories; Afrikaners, Ashkenazim, Finns, and East Anglian British. There are few differences, either in allele frequencies or in LD, among the populations studied. A similar inverse relationship was found between LD and distance in each genomic region and in each population. Mean D' is.68 for marker pairs <5 kb apart and is.24 for pairs separated by 10-20 kb, and the level of LD is not different from that seen in unlinked marker pairs separated by >500 kb. However, only 50% of marker pairs at distances <5 kb display sufficient LD (delta>.3) to be useful in association studies. Results of the present study, if representative of the whole genome, suggest that a whole-genome scan searching for common disease-susceptibility alleles would require markers spaced < or = 5 kb apart.

Indexed as

Chromosome MappingPhylogenyAfricaAllelesChromosomes, Human, Pair 13Chromosomes, Human, Pair 19Chromosomes, Human, Pair 22DemographyFinlandGene FrequencyGenetic MarkersGenetic Predisposition to DiseaseGenotypeHumansJewsLinkage DisequilibriumGenetic Markers

Identifiers

PMID11078480
PMCPMC1287929

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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.