Evidence map›Paper›PMID 34298916›Full record

ReviewInternational journal of molecular sciences2021

Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.

Imane Lalami, Carole Abo, Bruno Borghese, Charles Chapron, Daniel Vaiman

Open access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
5.0field-weighted citation impact, top 4% 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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.

  1. Pooled it
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  3. ReducedInternational journal of molecular sciences · 2026
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  19. Identification ofComputational and structural biotechnology journal · 2023
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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

5 authors at 1 institution in 1 country.

Imane LalamiInstitut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Carole AboInstitut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Bruno BorgheseInstitut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Charles ChapronInstitut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.
Daniel VaimanInstitut Cochin, U1016 INSERM, UMR8104 CNRS and Université de Paris, 24 rue du Faubourg St-Jacques, 75014 Paris, France.ORCID 0000-0002-1915-0717
Centre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This review aims at better understanding the genetics of endometriosis. Endometriosis is a frequent feminine disease, affecting up to 10% of women, and characterized by pain and infertility. In the most accepted hypothesis, endometriosis is caused by the implantation of uterine tissue at ectopic abdominal places, originating from retrograde menses. Despite the obvious genetic complexity of the disease, analysis of sibs has allowed heritability estimation of endometriosis at ~50%. From 2010, large Genome Wide Association Studies (GWAS), aimed at identifying the genes and loci underlying this genetic determinism. Some of these loci were confirmed in other populations and replication studies, some new loci were also found through meta-analyses using pooled samples. For two loci on chromosomes 1 (near CCD42) and chromosome 9 (near CDKN2A), functional explanations of the SNP (Single Nucleotide Polymorphism) effects have been more thoroughly studied. While a handful of chromosome regions and genes have clearly been identified and statistically demonstrated as at-risk for the disease, only a small part of the heritability is explained (missing heritability). Some attempts of exome sequencing started to identify additional genes from families or populations, but are still scarce. The solution may reside inside a combined effort: increasing the size of the GWAS designs, better categorize the clinical forms of the disease before analyzing genome-wide polymorphisms, and generalizing exome sequencing ventures. We try here to provide a vision of what we have and what we should obtain to completely elucidate the genetics of this complex disease.

Indexed as

AnimalsEndometriosisExomeExome SequencingFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsGenotypeHumansPolymorphism, Single Nucleotideendometriosisexome sequencinggenome-wide association studiesinfertilitymissing heritability

Identifiers

PMID34298916
PMCPMC8304276
OpenAlexW3178186334

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.