Heritability of endometriosis
Observational
OA: closed
CC0
⤵ 156 in-corpus citations
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This paper investigated the heritability of endometriosis, aiming to quantify the genetic contribution to the development of the condition.
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Abstract
OBJECTIVE: To estimate the relative contribution of genetic influences and prevalence on endometriosis.
DESIGN: Analysis of self-reported data from a nationwide population-based twin registry.
SETTING: Not applicable.
PATIENT(S): A total of 28,370 women, female monozygotic (MZ) or dizygotic (DZ) twins, who participated in either of two surveys (1998-2002 or 2005-2006).
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Self-reported endometriosis, validated by medical records.
RESULT(S): A history of endometriosis was reported by 1,228 female twins. The probandwise concordance was 0.21 for MZ and 0.10 for DZ twins. Higher within-pair (tetrachoric) correlation was observed among MZ (0.47) compared with DZ (0.20) twins. The best-fitting model revealed a contribution of 47% by additive genetic factors and the remaining 53% attributed to unique environmental effects.
CONCLUSION(S): Our findings suggest both genetic and unique (nonshared) environmental influences on the complex etiology of endometriosis and support the hypothesis that genes have a strong influence on phenotypic manifestations of endometriosis.
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References (43)
- A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese via openalex
- A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population via openalex
- Association between endometriosis and the interleukin 1A (IL1A) locus via openalex
- Chronic gynecological conditions reported by US women: findings from the National Health Interview Survey, 1984 to 1992 via openalex
- Common genetic influences underlie comorbidity of migraine and endometriosis via openalex
- Endometriosis and organochlorinated environmental pollutants: a case-control study on Italian women of reproductive age via openalex
- Endometriosis in monozygotic twins via openalex
- Environmental PCB exposure and risk of endometriosis via openalex
- Epidemiology of endometriosis via openalex
- Epidemiology of endometriosis in women attending family planning clinics via openalex
- ESHRE guideline for the diagnosis and treatment of endometriosis via openalex
- Familial aggregation of endometriosis in the Yale Series via openalex
- Familial endometriosis via openalex
- Family trait analysis: a case-control study of 43 women with endometriosis and their best friends via openalex
- Genetic influences on endometriosis in an Australian twin sample. [email protected] via openalex
- Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets via openalex
- Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis via openalex
- Genome-wide association study link novel loci to endometriosis via openalex
- Heritability and candidate genes for endometriosis via openalex
- Heritability and molecular genetic studies of endometriosis via openalex
- Heritable aspects of endometriosis. I. Genetic studies via openalex
- High prevalence of endometriosis in infertile women with normal ovulation and normospermic partners via openalex
- Incidence of pelvic endometriosis in Rochester, Minnesota, 1970-1979 via openalex
- Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population via openalex
- Organochlorine exposure and the risk of endometriosis via openalex
- Prevalence of newly diagnosed endometriosis in women attending the general practitioner via openalex
- Replication and meta-analysis of previous genome-wide association studies confirm vezatin as the locus with the strongest evidence for association with endometriosis via openalex
- Selected food intake and risk of endometriosis via openalex
- Serum dioxins, polychlorinated biphenyls, and endometriosis: a case-control study in Atlanta via openalex
- The physiopathology of endometriosis: pollution and dioxin via openalex
- W2126266321 via openalex
- W2127149967 via openalex
- W2139741257 via openalex
- W1995618284 via openalex
- W2168412098 via openalex
- W4212787352 via openalex
- W1972563403 via openalex
- W2098405376 via openalex
- W4321429418 via openalex
- W2098736824 via openalex
- W2039735851 via openalex
- W2015612792 via openalex
- W2119947818 via openalex
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- Hybrid risk scores integrating polygenic and clinical variables for endometriosis prediction 2026
- Variation in endometriosis aetiology, potential impact on lesion heterogeneity and the consequences for research and treatment 2026
- Endometriosis-associated Pain: Mechanism, Neuroimmune Signature, and Translational Precision Strategies 2026
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- Endometriosis: Epidemiology, Risk Factors, Molecular Mechanisms, Diagnosis, and Management 2026
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- Characteristics and Preoperative Management of Adolescent Patients with Pathology-Confirmed Endometriosis: A Multi-Institutional Study 2025
- The burden of endometriosis on quality of life in Danish blood donors 2025
- Endometrial Stromal Cells from Endometriosis Patients Reflect Lesion-Type-Specific Heterogeneity 2025
- Endometriosis: A Review 2025
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- The phenotypic and genetic association between endometriosis and immunological diseases 2025
- Efficacy of non-pharmacological therapies in chronic pelvic pain of endometriosis: a systematic review and meta-analysis 2025
- The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study 2025
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- Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case-Control Study 2025
- Systems Pharmacology Model Predicts Zinc and Copper Can Be Repurposed as Endometriosis Therapies 2025
- Genetic and Epigenetic Components in the Pathogenesis of Adenomyosis and Endometriosis in Adolescents 2025
- Reliability of self-reported endometriosis and adenomyosis data in online surveys: results from the ComPaRe-Endometriosis e-cohort 2025
- M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits 2025
- Genetic and Epigenetic Components in the Pathogenesis of Adenomyosis and Endometriosis in Adolescents 2025
- Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants 2025
- The Association of Endometriosis with Mental Health and Disorders 2025
- Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants 2025
- Co-occurrence of endometriosis with psoriasis and psoriatic arthritis: Genetic insights (Review) 2025
- Uncovering potential biomarkers of endometriosis: transcriptomic and single-cell analysis 2025
- Risk of endometriosis, adenomyosis, and related symptoms among female offspring according to conception by assisted reproductive technologies 2025
- Machine-learning-derived prediction models of recurrence of ovarian endometriosis after laparoscopic surgery 2025
- Causal associations between sleep disorders and endometriosis: A Mendelian randomization analysis 2025
- Endometriosis phenotypes and staging in relation to lipid biomarkers: Findings from the ENDO Cohort Study 2025
- Biomarkers of endometriosis 2025
- The Association of Endometriosis with Mental Health and Disorders 2024
- Endometriosis as an autoimmune disease 2024
- Endometriosis: Pathogenesis, Diagnosis and Treatment, volume II 2024
- Endometriosis risk is associated with shorter anogenital distance by meta-analysis 2024
- Enhancing Genetic Association Power in Endometriosis through Unsupervised Clustering of Clinical Subtypes Identified from Electronic Health Records 2024
- Endometriotic Tissue-derived Exosomes Downregulate NKG2D-mediated Cytotoxicity and Promote Apoptosis: Mechanisms for Survival of Ectopic Endometrial Tissue in Endometriosis 2024
- Genetic Links between Endometriosis and Endometriosis-Associated Ovarian Cancer-A Narrative Review (Endometriosis-Associated Cancer) 2024
- Endometriosis risk is associated with shorter anogenital distance by meta-analysis 2024
- Outpatient diagnosis and drug therapy of endometriosis: A review 2024
- Endometriosis-Related Genetic Factors and Their Role in Preterm Birth: A Two-Sample Mendelian Randomisation Study 2024
- Association of endometriosis with Sjögren's syndrome: Genetic insights (Review) 2024
- WTAP gene variants and susceptibility to ovarian endometriosis in a Chinese population 2023
- Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk 2023
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- europepmc
- last seen: 2026-10-16T06:09:50.462052+00:00
- openalex
- last seen: 2026-06-10T17:14:06.276822+00:00
- pubmed
- last seen: 2026-10-08T21:15:59.322652+00:00
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