Evidence map›Paper›PMID 16336695›Full record

ArticleRespiratory research2005

Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.

Joseph Donfack, Daniel H Schneider, Zheng Tan, Thorsten Kurz, Inna Dubchak, Kelly A Frazer, Carole Ober

Registry-linked trialOpen access · goldAbstract readControlled Clinical Trial
In one paragraph

Article in Respiratory research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00006512 (Characterizing a 5P-Linked BHR Susceptibility Locus), which is not on this map. Cited by 19 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 7 pooled it
–field-weighted citation impact, top 95% 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.

NCT00006512 completednot on this map

Characterizing a 5P-Linked BHR Susceptibility Locus

TypeobservationalSponsorUniversity of ChicagoRan2000 to 2005ConditionsAsthma, Lung Diseases
3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 7 syntheses or guidelines pooled it, 5 citations in OpenAlex.

  1. Pooled it
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  5. Association between promoter polymorphisms of interleukin-4 gene and allergic rhinitis risk: a meta-analysis.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2014
    Pooled it
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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

7 authors at 3 institutions in 1 country.

Joseph DonfackDepartment of Human Genetics, The University of Chicago, Chicago, IL 60637, USA. jdonfack@yahoo.com
Daniel H Schneider
Zheng Tan
Thorsten Kurz
Inna Dubchak
Kelly A Frazer
Carole Ober
University of Chicago · USLawrence Berkeley National Laboratory · USPerlegen (United States) · US

Funding

ZOLEDRONATE &OSTEOPOROTIC EFFECTS OF ANDROGEN DEPRIVATIM01RR000055 · NCRR · UNIVERSITY OF CHICAGO · PI DE WIT, HARRIET · 1985 to 2007
$19.0M
T CELL CO-STIMULATION IN ALLERGIC ASTHMAP50HL056399 · NHLBI · UNIVERSITY OF CHICAGO · PI WHITE, STEVEN R · 1996 to 2005
$9.1M
CHARACTERIZING A 5P-LINKED BHR SUSCEPTIBILITY LOCUSR01HL066533 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2000 to 2004
$2.4M
LINKAGE STUDIES OF ASTHMA--SEARCH FOR SUSCEPTIBILITY LOCU01HL049596 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 1992 to 2001
$1.6M
NCRR NIH HHS M01 RR000055NCRR NIH HHS M01 RR00055NHLBI NIH HHS HL56399NHLBI NIH HHS HL66533NHLBI NIH HHS P50 HL056399NHLBI NIH HHS R01 HL066533NHLBI NIH HHS U01 HL049596
6 · The paper itself

Abstract

backgroundEvolutionarily conserved sequences likely have biological function.

methodsTo determine whether variation in conserved sequences in non-coding DNA contributes to risk for human disease, we studied six conserved non-coding elements in the Th2 cytokine cluster on human chromosome 5q31 in a large Hutterite pedigree and in samples of outbred European American and African American asthma cases and controls.

resultsAmong six conserved non-coding elements (> 100 bp, > 70% identity; human-mouse comparison), we identified one single nucleotide polymorphism (SNP) in each of two conserved elements and six SNPs in the flanking regions of three conserved elements. We genotyped our samples for four of these SNPs and an additional three SNPs each in the IL13 and IL4 genes. While there was only modest evidence for association with single SNPs in the Hutterite and European American samples (P < 0.05), there were highly significant associations in European Americans between asthma and haplotypes comprised of SNPs in the IL4 gene (P < 0.001), including a SNP in a conserved non-coding element. Furthermore, variation in the IL13 gene was strongly associated with total IgE (P = 0.00022) and allergic sensitization to mold allergens (P = 0.00076) in the Hutterites, and more modestly associated with sensitization to molds in the European Americans and African Americans (P < 0.01).

conclusionThese results indicate that there is overall little variation in the conserved non-coding elements on 5q31, but variation in IL4 and IL13, including possibly one SNP in a conserved element, influence asthma and atopic phenotypes in diverse populations.

Indexed as

AsthmaChromosomes, Human, Pair 5Conserved SequenceGenetic Predisposition to DiseaseGenetic TestingGenetic VariationHeterozygoteHumansInterleukin-13Interleukin-4PedigreePolymorphism, Single NucleotideRespiratory HypersensitivitySequence Analysis, DNAInterleukin-13Interleukin-4

Identifiers

PMID16336695
PMCPMC1325232
OpenAlexW1523179990

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Registered trials

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.