Evidence map›Paper›PMID 19541915›Full record

ArticleGenome research2009

Genome-wide comparisons of variation in linkage disequilibrium.

Yik Y Teo, Andrew E Fry, Kanishka Bhattacharya, Kerrin S Small, Dominic P Kwiatkowski, Taane G Clark

Abstract readComparative StudyEvaluation Study
In one paragraph

Article in Genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 6 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

39 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
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  5. Efficiency of trans-ethnic genome-wide meta-analysis and fine-mapping.European journal of human genetics : EJHG · 2012
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  14. Convergent evolution in Arabidopsis halleri and Arabidopsis arenosa on calamine metalliferous soils.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019
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  18. Testing Domestication Scenarios of Lima Bean (Frontiers in plant science · 2017
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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

6 authors.

Yik Y TeoWellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom. teo@well.ox.ac.uk
Andrew E Fry
Kanishka Bhattacharya
Kerrin S Small
Dominic P Kwiatkowski
Taane G Clark

Funding

Medical Research Council G0600718Medical Research Council G19/9Wellcome TrustWellcome Trust 076113
6 · The paper itself

Abstract

Current genome-wide surveys of common diseases and complex traits fundamentally aim to detect indirect associations where the single nucleotide polymorphisms (SNPs) carrying the association signals are not biologically active but are in linkage disequilibrium (LD) with some unknown functional polymorphisms. Reproducing any novel discoveries from these genome-wide scans in independent studies is now a prerequisite for the putative findings to be accepted. Significant differences in patterns of LD between populations can affect the portability of phenotypic associations when the replication effort or meta-analyses are attempted in populations that are distinct from the original population in which the genome-wide study is performed. Here, we introduce a novel method for genome-wide analyses of LD variations between populations that allow the identification of candidate regions with different patterns of LD. The evidence of LD variation provided by the introduced method correlated with the degree of differences in the frequencies of the most common haplotype across the populations. Identified regions also resulted in greater variation in the success of replication attempts compared with random regions in the genome. A separate permutation strategy introduced for assessing LD variation in the absence of genome-wide data also correctly identified the expected variation in LD patterns in two well-established regions undergoing strong population-specific evolutionary pressure. Importantly, this method addresses whether a failure to reproduce a disease association in a disparate population is due to underlying differences in LD structure with an unknown functional polymorphism, which is vital in the current climate of replicating and fine-mapping established findings from genome-wide association studies.

Indexed as

Linkage DisequilibriumCase-Control StudiesCohort StudiesComputer SimulationGambiaGene FrequencyGenetics, PopulationGenome-Wide Association StudyHaplotypesHumansObserver VariationPolymorphism, Single NucleotideUnited Kingdom

Identifiers

PMID19541915
PMCPMC2765270

What OpenQuestion holds

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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.