ArticleNature communications2016
Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis 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.
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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.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Phytochemicals Modulating Receptor Tyrosine Kinase Signaling Networks in Endometriosis.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Mechanistic decoding of triclosan-induced endometriosis via network toxicology, Mendelian randomization, and molecular docking.BMC pharmacology & toxicology · 2025Article
- M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Endometriosis: Challenges in Clinical Molecular Diagnostics and Treatment.International journal of molecular sciences · 2025Review
- Causal Effects of Endometriosis Stages on Adverse Pregnancy and Perinatal Outcomes: A Mendelian Randomization Study.International journal of women's health · 2025Article
- Targeted nanoparticles for imaging and therapy of endometriosis†.Biology of reproduction · 2024Review
- Dissecting the shared genetic architecture between endometriosis and polycystic ovary syndrome.Frontiers in endocrinology · 2024Article
- Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.Human genomics · 2023Article
- Targeted Nanoparticles with High Heating Efficiency for the Treatment of Endometriosis with Systemically Delivered Magnetic Hyperthermia.Small (Weinheim an der Bergstrasse, Germany) · 2022Article
- TTC39B destabilizes retinoblastoma protein promoting hepatic lipogenesis in a sex-specific fashion.Journal of hepatology · 2022Article
- Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.International journal of molecular sciences · 2021Review
- Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis.Journal of clinical medicine · 2020Review
- Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?Journal of minimally invasive gynecology · 2020Review
- Genetics-driven discovery of novel regulators of lipid metabolism.Current opinion in lipidology · 2019Review
- Defining the genetic profile of endometriosis.Experimental and therapeutic medicine · 2019Review
- Villainous role of estrogen in macrophage-nerve interaction in endometriosis.Reproductive biology and endocrinology : RB&E · 2018Review
- Article
- Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We conducted a genome-wide association scan (GWAS) of endometriosis using 25.5 million sequence variants detected through whole-genome sequencing (WGS) of 8,453 Icelanders and imputed into 1,840 cases and 129,016 control women, followed by testing of associated variants in Danish samples. Here we report the discovery of a new endometriosis susceptibility locus on 4q12 (rs17773813[G], OR=1.28; P=3.8 × 10(-11)), upstream of KDR encoding vascular endothelial growth factor receptor 2 (VEGFR2). The variant correlates with disease severity (P=0.0046) when moderate/severe endometriosis cases are tested against minimal/mild cases. We further report association of rs519664[T] in TTC39B on 9p22 with endometriosis (P=4.8 × 10(-10); OR=1.29). The involvement of KDR in endometriosis risk highlights the importance of the VEGF pathway in the pathogenesis of the disease.
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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.