ArticleMolecular human reproduction2015
Genetic burden associated with varying degrees of disease severity in endometriosis.
Article in Molecular human reproduction, 2015. 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.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Endometriosis: new insights and opportunities for relief of symptoms.Biology of reproduction · 2025Review
- The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study.BMC medicine · 2025Article
- Interaction between genetic risk and comorbid conditions in endometriosis.HGG advances · 2025Article
- Endometriosis and Infertility: Gynecological Examination Practical Guide.Journal of clinical medicine · 2025Review
- Deep Infiltrating Endometriosis in Adolescence: Early Diagnosis and Possible Prevention of Disease Progression.Journal of clinical medicine · 2024Review
- New concepts on the etiology of endometriosis.The journal of obstetrics and gynaecology research · 2023Article
- Polymorphisms of TNF-alpha (- 308), IL-1beta (+ 3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: a case control study.BMC women's health · 2022Article
- Insights from genomic studies on the role of sex steroids in the aetiology of endometriosis.Reproduction & fertility · 2022Review
- Epigenetic Factors in Eutopic Endometrium in Women with Endometriosis and Infertility.International journal of molecular sciences · 2022Review
- Validity of self-reported endometriosis: a comparison across four cohorts.Human reproduction (Oxford, England) · 2021Article
- Polygenic Risk Score Prediction for Endometriosis.Frontiers in reproductive health · 2021Article
- Characterization of exosomes in peritoneal fluid of endometriosis patients.Fertility and sterility · 2020Article
- Article
- The role of IL‑16 gene polymorphisms in endometriosis.International journal of molecular medicine · 2018Article
- The role of gene polymorphisms in endometriosis.Molecular medicine reports · 2017Article
- Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.Scientific reports · 2017Article
- Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.Journal of assisted reproduction and genetics · 2017Article
- Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.Nature communications · 2016Article
- Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient.Seminars in reproductive medicine · 2016Review
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
Endometriosis is primarily characterized by the presence of tissue resembling endometrium outside the uterine cavity and is usually diagnosed by laparoscopy. The most commonly used classification of disease, the revised American Fertility Society (rAFS) system to grade endometriosis into different stages based on disease severity (I to IV), has been questioned as it does not correlate well with underlying symptoms, posing issues in diagnosis and choice of treatment. Using two independent European genome-wide association (GWA) datasets and top-level classification of the endometriosis cases based on rAFS [minimal or mild (Stage A) and moderate-to-severe (Stage B) disease], we previously showed that Stage B endometriosis has greater contribution of common genetic variation to its aetiology than Stage A disease. Herein, we extend our previous analysis to four endometriosis stages [minimal (Stage I), mild (Stage II), moderate (Stage III) and severe (Stage IV) disease] based on the rAFS classification system and compared the genetic burden across stages. Our results indicate that genetic burden increases from minimal to severe endometriosis. For the minimal disease, genetic factors may contribute to a lesser extent than other disease categories. Mild and moderate endometriosis appeared genetically similar, making it difficult to tease them apart. Consistent with our previous reports, moderate and severe endometriosis showed greater genetic burden than minimal or mild disease. Overall, our results provide new insights into the genetic architecture of endometriosis and further investigation in larger samples may help to understand better the aetiology of varying degrees of endometriosis, enabling improved diagnostic and treatment modalities.
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