Evidence map›Paper›PMID 25296917›Full record

ArticleHuman molecular genetics2015

Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.

Nilufer Rahmioglu, Stuart Macgregor, Alexander W Drong, Åsa K Hedman, Holly R Harris, Joshua C Randall, Inga Prokopenko, International Endogene Consortium (IEC), The GIANT Consortium, Dale R Nyholt, Andrew P Morris and 4 more

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

Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 2 pooled it
8.4field-weighted citation impact, top 2% 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

45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 82 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. The interplay between endometriosis and obesity.Trends in endocrinology and metabolism: TEM · 2025
    Review
  5. Article
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  12. Article
  13. Endometriosis and inflammatory immune responses: Indian experience.American journal of reproductive immunology (New York, N.Y. : 1989) · 2023
    Review
  14. Clinical characteristics and surgical management of endometriosis-associated infertility: A multicenter prospective cohort study.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2022
    Article
  15. Review
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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

14 authors at 9 institutions in 4 countries.

Nilufer RahmiogluWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Stuart MacgregorStatistical Genetics.
Alexander W DrongWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Åsa K HedmanWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Holly R HarrisDepartment of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA, Unit of Nutritional Epidemiology, Institute for Environmental Medicine, Karolinska Institutet, PO Box 210, SE-171 77 Stockholm, Sweden.
Joshua C RandallWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Inga ProkopenkoWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Department of Genomics of Common Disease, Imperial College London, London W12 0NN, UK, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK.
International Endogene Consortium (IEC), The GIANT Consortium
Dale R NyholtNeurogenetics.
Andrew P MorrisWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Department of Biostatistics, University of Liverpool, Duncan Building, Daulby Street, Liverpool L69 3GA, UK.
Grant W MontgomeryMolecular Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Stacey A MissmerDepartment of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
Cecilia M LindgrenWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge 02142 MA, USA and.
Krina T ZondervanWellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, Nuffield Department of Obstetrics and Gynaecology & Endometriosis CaRe Centre, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK krinaz@well.ox.ac.uk.
Centre for Human Genetics · GBUniversity of Oxford · GBBrigham and Women's Hospital · USGenomics England · GBHarvard University · USMassachusetts Institute of Technology · USQIMR Berghofer Medical Research Institute · AUUniversity of Liverpool · GBWellcome Sanger Institute · GB

Funding

Cancer Research UK 14136Chief Scientist Office CZB/4/672Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/K011480/1Wellcome Trust 084766Wellcome Trust 085235Wellcome Trust 090532Wellcome Trust 098017
6 · The paper itself

Abstract

Endometriosis is a chronic inflammatory condition in women that results in pelvic pain and subfertility, and has been associated with decreased body mass index (BMI). Genetic variants contributing to the heritable component have started to emerge from genome-wide association studies (GWAS), although the majority remain unknown. Unexpectedly, we observed an intergenic locus on 7p15.2 that was genome-wide significantly associated with both endometriosis and fat distribution (waist-to-hip ratio adjusted for BMI; WHRadjBMI) in an independent meta-GWAS of European ancestry individuals. This led us to investigate the potential overlap in genetic variants underlying the aetiology of endometriosis, WHRadjBMI and BMI using GWAS data. Our analyses demonstrated significant enrichment of common variants between fat distribution and endometriosis (P = 3.7 × 10(-3)), which was stronger when we restricted the investigation to more severe (Stage B) cases (P = 4.5 × 10(-4)). However, no genetic enrichment was observed between endometriosis and BMI (P = 0.79). In addition to 7p15.2, we identify four more variants with statistically significant evidence of involvement in both endometriosis and WHRadjBMI (in/near KIFAP3, CAB39L, WNT4, GRB14); two of these, KIFAP3 and CAB39L, are novel associations for both traits. KIFAP3, WNT4 and 7p15.2 are associated with the WNT signalling pathway; formal pathway analysis confirmed a statistically significant (P = 6.41 × 10(-4)) overrepresentation of shared associations in developmental processes/WNT signalling between the two traits. Our results demonstrate an example of potential biological pleiotropy that was hitherto unknown, and represent an opportunity for functional follow-up of loci and further cross-phenotype comparisons to assess how fat distribution and endometriosis pathogenesis research fields can inform each other.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyQuantitative Trait, HeritableQuantitative Trait LociAdiposityAdultAllelesChromosomes, Human, Pair 7EndometriosisFemaleHumansObesityOdds RatioSignal Transduction

Identifiers

PMID25296917
PMCPMC4576730
OpenAlexW2168646496

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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.