Evidence map›Paper›PMID 24319535›Full record

ArticleInternational journal of molecular epidemiology and genetics2013

Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36.

Hien Tt Luong, Jodie N Painter, Konstantin Shakhbazov, Brett Chapman, Anjali K Henders, Joseph E Powell, Dale R Nyholt, Grant W Montgomery

Open access · greenAbstract read
In one paragraph

Article in International journal of molecular epidemiology and genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 2 pooled it
2.1field-weighted citation impact, top 13% 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.

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, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
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  6. Review
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  11. Article
  12. The role of gene polymorphisms in endometriosis.Molecular medicine reports · 2017
    Article
  13. Association of WNT4 polymorphisms with endometriosis in infertile patients.Journal of assisted reproduction and genetics · 2015
    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

8 authors at 1 institution in 1 country.

Hien Tt LuongDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute Brisbane, Queensland, Australia.
Jodie N Painter
Konstantin Shakhbazov
Brett Chapman
Anjali K Henders
Joseph E Powell
Dale R Nyholt
Grant W Montgomery
QIMR Berghofer Medical Research Institute · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies show strong evidence of association with endometriosis for markers on chromosome 1p36 spanning the potential candidate genes WNT4, CDC42 and LINC00339. WNT4 is involved in development of the uterus, and the expression of CDC42 and LINC00339 are altered in women with endometriosis. We conducted fine mapping to examine the role of coding variants in WNT4 and CDC42 and determine the key SNPs with strongest evidence of association in this region. We identified rare coding variants in WNT4 and CDC42 present only in endometriosis cases. The frequencies were low and cannot account for the common signal associated with increased risk of endometriosis. Genotypes for five common SNPs in the region of chromosome 1p36 show stronger association signals when compared with rs7521902 reported in published genome scans. Of these, three SNPs rs12404660, rs3820282, and rs55938609 were located in DNA sequences with potential functional roles including overlap with transcription factor binding sites for FOXA1, FOXA2, ESR1, and ESR2. Functional studies will be required to identify the gene or genes implicated in endometriosis risk.

Indexed as

CDC42chromosome 1p36common variantsEndometriosisrare variantsWNT4

Identifiers

PMID24319535
PMCPMC3852639
OpenAlexW18549016

What OpenQuestion holds

Textmetadata
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.