Evidence map›Paper›PMID 24796765›Full record

ArticleFertility and sterility2014

Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis.

Jodie N Painter, Dale R Nyholt, Lutz Krause, Zhen Z Zhao, Brett Chapman, Christine Zhang, Sarah Medland, Nicholas G Martin, Stephen Kennedy, Susan Treloar and 2 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Fertility and sterility, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 93% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Defining the genetic profile of endometriosis.Experimental and therapeutic medicine · 2019
    Review
  8. Endometriosis Knowledgebase: a gene-based resource on endometriosis.Database : the journal of biological databases and curation · 2019
    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

12 authors at 5 institutions in 2 countries.

Jodie N PainterQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address: jodie.painter@qimrberghofer.edu.au.
Dale R NyholtQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Lutz KrauseQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Zhen Z ZhaoQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Brett ChapmanQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Christine ZhangMater Medical Research Institute, Brisbane, Queensland, Australia.
Sarah MedlandQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Stephen KennedyNuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
Susan TreloarCentre for Military and Veterans' Health, University of Queensland, Mayne Medical School, Queensland, Australia.
Krina ZondervanGenetic and Genomic Epidemiology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Grant W MontgomeryQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
QIMR Berghofer Medical Research Institute · AUCentre for Human Genetics · GBMater Research · AUUniversity of Oxford · GBUniversity of Queensland · AU

Funding

Identifying Susceptibility Genes for EndometriosisR01HD050537 · NICHD · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI MONTGOMERY, GRANT W · 2006 to 2009
$1.5M
Medical Research Council MR/K011480/1NICHD NIH HHS R01 HD050537NICHD NIH HHS R01HD50537Wellcome Trust 084766Wellcome Trust 085235Wellcome Trust WT084766/Z/08/ZWellcome Trust WT085235/Z/08/Z
6 · The paper itself

Abstract

objectiveTo follow-up previous studies highlighting a possible role for cytochrome P450, family 2, subfamily C, 19 (CYP2C19) in susceptibility to endometriosis by searching for additional variants in the CYP2C19 gene that may be associated with the disease.

designCase-control study.

settingAcademic research. SUBJECT(S): The cases comprised 2,271 women with surgically confirmed endometriosis; the controls comprised 939 women with self-report of no endometriosis and 1,770 unscreened population samples. INTERVENTION(S): Sequencing of the CYP2C19 region and follow-up of 80 single nucleotide polymorphisms (SNPs) in two case-control samples. MAIN OUTCOME MEASURE(S): Allele frequency differences between cases and controls. RESULT(S): Sequencing of the CYP2C19 gene region resulted in the detection of a large number of known and novel SNPs. Genotyping of 80 polymorphic SNPs in 901 endometriosis cases and 939 controls resulted in study-wide significant association signals for SNPs in moderate or complete linkage disequilibrium with rs4244285, a functional SNP in exon 5 that abrogates CYP2C19 function through the creation of an alternative splice site. Evidence of association was also detected for another functional SNP in the CYP2C19 promoter, rs12248560, which was highlighted in our previous study. CONCLUSION(S): Functional variants in CYP2C19 may contribute to endometriosis susceptibility in both familial and sporadic cases.

Indexed as

Polymorphism, Single NucleotideAryl Hydrocarbon HydroxylasesCase-Control StudiesCytochrome P-450 CYP2C19EndometriosisExonsFemaleGene FrequencyGenetic Predisposition to DiseaseHeredityHumansLinkage DisequilibriumPedigreePhenotypePromoter Regions, GeneticRisk FactorsAryl Hydrocarbon HydroxylasesCYP2C19 protein, humanCytochrome P-450 CYP2C19RNA Splice SitesassociationCYP2C19Endometriosispooled sequencingrs12248560rs4244285

Identifiers

PMID24796765
PMCPMC4150687
OpenAlexW1606530243

What OpenQuestion holds

Textmetadata
LicenceTDM
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.