Evidence map›Paper›PMID 21886828›Full record

ArticlePloS one2011

Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates.

Wenhua Wei, Gibran Hemani, Andrew A Hicks, Veronique Vitart, Claudia Cabrera-Cardenas, Pau Navarro, Jennifer Huffman, Caroline Hayward, Sara A Knott, Igor Rudan and 8 more

Abstract read
In one paragraph

Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–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

13 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Detecting epistasis in human complex traits.Nature reviews. Genetics · 2014
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. 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

18 authors.

Wenhua WeiMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom. wenhua.wei@hgu.mrc.ac.uk
Gibran Hemani
Andrew A Hicks
Veronique Vitart
Claudia Cabrera-Cardenas
Pau Navarro
Jennifer Huffman
Caroline Hayward
Sara A Knott
Igor Rudan
Peter P Pramstaller
Sarah H Wild
James F Wilson
Harry Campbell
Malcolm G Dunlop
Nicholas Hastie
Alan F Wright
Chris S Haley

Funding

Biotechnology and Biological Sciences Research Council BB/H024484/1Biotechnology and Biological Sciences Research Council BBS/E/R/00001604Cancer Research UK 12076Chief Scientist Office CZB/4/710Medical Research Council MC_PC_U127527198Medical Research Council MC_PC_U127561128Medical Research Council MC_PC_U127592696Medical Research Council MC_U127527198Medical Research Council MC_U127561128Medical Research Council MC_U127592696Wellcome Trust
6 · The paper itself

Abstract

Genome-wide association (GWA) studies have identified a number of loci underlying variation in human serum uric acid (SUA) levels with the SLC2A9 gene having the largest effect identified so far. Gene-gene interactions (epistasis) are largely unexplored in these GWA studies. We performed a full pair-wise genome scan in the Italian MICROS population (n = 1201) to characterise epistasis signals in SUA levels. In the resultant epistasis profile, no SNP pairs reached the Bonferroni adjusted threshold for the pair-wise genome-wide significance. However, SLC2A9 was found interacting with multiple loci across the genome, with NFIA-SLC2A9 and SLC2A9-ESRRAP2 being significant based on a threshold derived for interactions between GWA significant SNPs and the genome and jointly explaining 8.0% of the phenotypic variance in SUA levels (3.4% by interaction components). Epistasis signal replication in a CROATIAN population (n = 1772) was limited at the SNP level but improved dramatically at the gene ontology level. In addition, gene ontology terms enriched by the epistasis signals in each population support links between SUA levels and neurological disorders. We conclude that GWA epistasis analysis is useful despite relatively low power in small isolated populations.

Indexed as

Epistasis, GeneticGenome-Wide Association StudyCroatiaERRalpha Estrogen-Related ReceptorGlucose Transport Proteins, FacilitativeHumansItalyNervous System DiseasesNFI Transcription FactorsReceptors, EstrogenSignal TransductionUric AcidERRalpha Estrogen-Related ReceptorGlucose Transport Proteins, FacilitativeNFIA protein, humanNFI Transcription FactorsReceptors, EstrogenSLC2A9 protein, humanUric Acid

Identifiers

PMID21886828
PMCPMC3158795

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Registered trials

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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.