Evidence map›Paper›PMID 26378653›Full record

ArticleGenes and immunity2015

A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14.

R J Holt, C Vandiedonck, S A Willis-Owen, J C Knight, W O Cookson, M F Moffatt, Y Zhang

Erratum issuedOpen access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes and immunity, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 21% 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

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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

3 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 1 country.

R J HoltWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
C VandiedonckWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
S A Willis-OwenMolecular Genomics and Genetics Group, National Heart and Lung Institute, Imperial College London, London, UK.
J C KnightWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
W O CooksonMolecular Genomics and Genetics Group, National Heart and Lung Institute, Imperial College London, London, UK.
M F MoffattMolecular Genomics and Genetics Group, National Heart and Lung Institute, Imperial College London, London, UK.
Y ZhangMolecular Genomics and Genetics Group, National Heart and Lung Institute, Imperial College London, London, UK.
Genomics (United Kingdom) · GBCentre for Human Genetics · GBImperial College London · GBUniversity of Oxford · GB

Funding

Medical Research CouncilWellcome Trust 097117
6 · The paper itself

Abstract

The immunoglobulin E (IgE)-associated locus on human chromosome 13q14 influencing asthma-related traits contains the genes PHF11 and SETDB2. SETDB2 is located in the same linkage disequilibrium region as PHF11 and polymorphisms within SETDB2 have been shown to associate with total serum IgE levels. In this report, we sequenced the 15 exons of SETDB2 and identified a single previously ungenotyped mutation (AT/G, rs386770867) in the 5'-untranslated region of the gene. The polymorphism was found to be significantly associated with serum IgE levels in our asthma cohort (P=0.0012). Electrophoretic mobility shift assays revealed that the transcription factor Ying Yang 1 binds to the AT allele, whereas SRY (Sex determining Region Y) binds to the G allele. Allele-specific transcription analysis (allelotyping) was performed in 35 individuals heterozygous for rs386770867 from a panel of 200 British families ascertained through probands with severe stage 3 asthma. The AT allele was found to be significantly overexpressed in these individuals (P=1.26×10(-21)). A dual-luciferase assay with the pGL3 luciferase reporter gene showed that the AT allele significantly affects transcriptional activities. Our results indicate that the IgE-associated AT/G polymorphism (rs386770867) regulates transcription of SETDB2.

Indexed as

5' Untranslated RegionsChromosomes, Human, Pair 13AdolescentAdultAsthmaChildElectrophoretic Mobility Shift AssayExonsFemaleHistone-Lysine N-MethyltransferaseHumansImmunoglobulin EMaleMiddle AgedPolymorphism, Single NucleotideProtein Methyltransferases5' Untranslated RegionsHistone-Lysine N-MethyltransferaseImmunoglobulin EProtein Methyltransferases

Identifiers

PMID26378653
PMCPMC4763160
OpenAlexW1588135751

What OpenQuestion holds

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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.