SynthesisNature genetics2012
Genome-wide association meta-analysis identifies new endometriosis risk loci.
Synthesis in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 159 papers, 19 of them syntheses that pooled it.
What it found
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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
159 citing papers in PubMed, 19 syntheses or guidelines pooled it, 305 citations in OpenAlex.
- Meta-Analysis of 16S rRNA Sequencing Reveals Altered Fecal but Not Vaginal Microbial Composition and Function in Women with Endometriosis.Medicina (Kaunas, Lithuania) · 2025Pooled it
- Exosomal MicroRNAs as Epigenetic Biomarkers for Endometriosis: A Systematic Review and Bioinformatics Analysis.International journal of molecular sciences · 2025Pooled it
- Understanding the impact of endometriosis on women's life: an integrative review of systematic reviews.BMC women's health · 2024Pooled it
- Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.Human reproduction (Oxford, England) · 2022Pooled it
- Exploration of the core protein network under endometriosis symptomatology using a computational approach.Frontiers in endocrinology · 2022Pooled it
- Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nature communications · 2019Pooled it
- Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.Scientific reports · 2018Pooled it
- The miRNA Mirage: How Close Are We to Finding a Non-Invasive Diagnostic Biomarker in Endometriosis? A Systematic Review.International journal of molecular sciences · 2018Pooled it
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer.International journal of cancer · 2016Pooled it
- Combination of the non-invasive tests for the diagnosis of endometriosis.The Cochrane database of systematic reviews · 2016Pooled it
- Blood biomarkers for the non-invasive diagnosis of endometriosis.The Cochrane database of systematic reviews · 2016Pooled it
- Endometrial biomarkers for the non-invasive diagnosis of endometriosis.The Cochrane database of systematic reviews · 2016Pooled it
- Imaging modalities for the non-invasive diagnosis of endometriosis.The Cochrane database of systematic reviews · 2016Pooled it
- Urinary biomarkers for the non-invasive diagnosis of endometriosis.The Cochrane database of systematic reviews · 2015Pooled it
- Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.Nature communications · 2015Pooled it
- Association between endometriosis and the interleukin 1A (IL1A) locus.Human reproduction (Oxford, England) · 2015Pooled it
- Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets.Human reproduction updatePooled it
- Guidelines for the design, analysis and interpretation of 'omics' data: focus on human endometrium.Human reproduction updatePooled it
- The importance of gene polymorphism in familial inheritance of endometriosis.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
99 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 10 institutions in 4 countries.
Funding
Abstract
We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese and European ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (P = 3.6 × 10(-3)), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P <5 × 10(-8) in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the genome-wide association cohorts of European and Japanese descent (P = 8.8 × 10(-11)), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations.
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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.