ReviewSeminars in reproductive medicine2016
Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient.
Review in Seminars in reproductive medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Building Disease Models for Endometriosis: iPSCs as Game-Changers.International journal of molecular sciences · 2026Review
- Interpretable machine learning for endometriosis classification: a rule-based approach.BMC medical informatics and decision making · 2026Article
- Endometriosis phenotypes and staging in relation to lipid biomarkers: Findings from the ENDO Cohort Study.Journal of gynecology obstetrics and human reproduction · 2026Article
- Association of Genetic Variations in The PIK3-AKT-mTOR Pathway with Endometriosis Susceptibility: A Preliminary Case-Control Study.International journal of fertility & sterility · 2025Article
- Endometriosis Coinciding with Uterus Didelphys and Renal Agenesis: A Literature Review.Journal of clinical medicine · 2024Review
- Endometriosis and uterine fibroids and risk of premature mortality: prospective cohort study.BMJ (Clinical research ed.) · 2024Article
- Elevated basophil count is associated with increased risk of endometriosis.Reproduction & fertility · 2024Article
- Deep Infiltrating Endometriosis in Adolescence: Early Diagnosis and Possible Prevention of Disease Progression.Journal of clinical medicine · 2024Review
- Endometriosis in the era of precision medicine and impact on sexual and reproductive health across the lifespan and in diverse populations.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Review
- Phenomic Studies on Diseases: Potential and Challenges.Phenomics (Cham, Switzerland) · 2023Review
- Endometriosis and inflammatory immune responses: Indian experience.American journal of reproductive immunology (New York, N.Y. : 1989) · 2023Review
- Prenatal Origins of Endometriosis Pathology and Pain: Reviewing the Evidence of a Role for Low Testosterone.Journal of pain research · 2023Article
- Female reproductive dysfunctions and the gut microbiota.Journal of molecular endocrinology · 2022Review
- Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis.Reproduction & fertility · 2022Review
- Endometriosis: current challenges in modeling a multifactorial disease of unknown etiology.Journal of translational medicine · 2020Review
- Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis.Journal of clinical medicine · 2020Review
- Physiomimetic Models of Adenomyosis.Seminars in reproductive medicine · 2020Review
- Epidemiology of Adenomyosis.Seminars in reproductive medicine · 2020Review
- Role of FN1 and GREB1 gene polymorphisms in endometriosis.Molecular medicine reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 6 institutions in 3 countries.
Funding
Abstract
Endometriosis is a heritable, complex chronic inflammatory disease, for which much of the causal pathogenic mechanism remains unknown. Genome-wide association studies (GWAS) to date have identified 12 single nucleotide polymorphisms at 10 independent genetic loci associated with endometriosis. Most of these were more strongly associated with revised American Fertility Society stage III/IV, rather than stage I/II. The loci are almost all located in intergenic regions that are known to play a role in the regulation of expression of target genes yet to be identified. To identify the target genes and pathways perturbed by the implicated variants, studies are required involving functional genomic annotation of the surrounding chromosomal regions, in terms of transcription factor binding, epigenetic modification (e.g., DNA methylation and histone modification) sites, as well as their correlation with RNA transcription. These studies need to be conducted in tissue types relevant to endometriosis-in particular, endometrium. In addition, to allow biologically and clinically relevant interpretation of molecular profiling data, they need to be combined and correlated with detailed, systematically collected phenotypic information (surgical and clinical). The WERF Endometriosis Phenome and Biobanking Harmonisation Project is a global standardization initiative that has produced consensus data and sample collection protocols for endometriosis research. These now pave the way for collaborative studies integrating phenomic with genomic data, to identify informative subtypes of endometriosis that will enhance understanding of the pathogenic mechanisms of the disease and discovery of novel, targeted treatments.
Indexed as
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What OpenQuestion holds
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.