Genetic Basis of Endometriosis
review
OA: closed
CC0
⤵ 66 in-corpus citations
AI-generated summary
This review discusses heritability studies, genomewide strategies, and candidate genes involved in the genetic basis of endometriosis, a polygenic/multifactorial disorder.
One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works
Abstract
Endometriosis is a complex gynecologic disorder that has long been recognized as showing heritable tendencies, with recurrence risks of 5-7% for first-degree relatives. Familial and epidemiologic studies support that this disease is a genetic disorder of polygenic/multifactorial inheritance. The current investigational challenge is to determine the number and location of causative genes. Recent advances in molecular technology make identification and elucidation of these genes now possible. In this review, we update previous communications in which we also reviewed heritability studies supporting polygenic/multifactorial inheritance, discuss the scientific basis of genomewide strategies for identifying causative genes, and identify potential candidate genes.
My notes (saved in your browser only)
Condition tags
MeSH descriptors
Citation neighborhood
Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.
References (82)
- Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population via openalex
- Affected sib-pair analysis in endometriosis via openalex
- Allelotyping of endometriosis with adjacent ovarian carcinoma reveals evidence of a common lineage. via openalex
- Altered expression of a cell-cycle suppressor gene, Tob-1, in endometriotic cells by cDNA array analyses via openalex
- Analysis of G/R241 intercellular adhesion molecule-1 (ICAM-1) gene polymorphism in a group of Italian endometriosis patients via openalex
- Analysis of the involvement of CCR5- 32 and CCR2-V64I variants in the development of endometriosis via openalex
- Angiogenic Factors in Endometriosis via openalex
- Applications of Polymorphisms and Pharmacogenomics in Obstetrics and Gynecology via openalex
- Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population via openalex
- Association of an A allele for interleukin-10 -627 gene promoter polymorphism with higher susceptibility to endometriosis. via openalex
- Association of estrogen receptor gene polymorphisms with endometriosis via openalex
- Association of estrogen receptor gene restriction fragment length polymorphisms and endometriosis via openalex
- Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women via openalex
- Circulating Ovarian Steroids and Endometrial Matrix Metalloproteinases (MMPs) via openalex
- Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH) via openalex
- Development of a web site for the genetic epidemiology of endometriosis via openalex
- Emerging role of genomics in endometriosis research via openalex
- Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT) via openalex
- Endometriosis: candidate genes via openalex
- Endometriosis is not associated with or linked to the GALT gene via openalex
- Estrogen biosynthesis in endometriosis: molecular basis and clinical relevance via openalex
- Evidence for monoclonal expansion of epithelial cells in ovarian endometrial cysts. via openalex
- Expression Profiling of Endometrium from Women with Endometriosis Reveals Candidate Genes for Disease-Based Implantation Failure and Infertility via openalex
- Familial inheritance of endometriosis in a British population. A case control study via openalex
- Familial trend of dysmenorrhea and endometriosis—a study from members of endometriosis association, Taiwan via openalex
- Genetics and infertility II Affected sib-pair analysis in endometriosis via openalex
- Genetics of endometriosis via openalex
- Genetics of Endometriosis: A Review of the Positional Cloning Approaches via openalex
- Genome-wide cDNA microarray analysis of gene-expression profiles involved in ovarian endometriosis. via openalex
- Global analysis of differentially expressed genes in endometrium with or without endometriosis using human cDNA microarray via openalex
- Glutathione S-transferase M1 and T1 genotypes and endometriosis risk: a case-controlled study. via openalex
- Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population via openalex
- GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer via openalex
- Heritability and Molecular Genetic Studies of Endometriosis via openalex
- Heritable aspects of endometriosis via openalex
- Heritable aspects of endometriosis via openalex
- Identification of differential gene expression in human endometriosis by subtractive hybridization and gene expression profiling with real-time PCR via openalex
- Implantation Defects in Infertile Women with Endometriosis via openalex
- Intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms in endometriosis via openalex
- International Endogene Study finds strong evidence of susceptibility loci for endometriosis at two genomic regions via openalex
- Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1 via openalex
- Linkage or association to the GALT gene on chromosome 9 is not demonstrable in endometriosis via openalex
- Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary. via openalex
- Magnetic resonance imaging to assess familial risk in relatives of women with endometriosis via openalex
- Microsatellite analysis of endometriosis reveals loss of heterozygosity at candidate ovarian tumor suppressor gene loci. via openalex
- Microsatellite DNA assays reveal an allelic imbalance in p16Ink4, GALT, p53, and APOA2 loci in patients with endometriosis via openalex
- Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis via openalex
- NAT2 and GSTM1 DNA polymorphisms: increased GSTM1 (active) genotypes in endometriosis via openalex
- No Association of Endometriosis With Glutathione S-Transferase M1 and T1 Null Mutations in a Japanese Population via openalex
- p21 gene codon 31 arginine/serine polymorphism: Non‐association with endometriosis via openalex
- p53 mutations and overexpression affect prognosis of ovarian endometrioid cancer but not clear cell cancer via openalex
- Polymorphism of the Interleukin-1β Gene and Endometriosis via openalex
- Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis via openalex
- Possible involvement of <i>hMLH1, p16</i><sup><i>INK4a</i></sup> and <i>PTEN</i> in the malignant transformation of endometriosis via openalex
- Preliminary results from two combined genome-wide scans in endometriosis via openalex
- PROGINS receptor gene polymorphism is associated with endometriosis via openalex
- [Relationship between endometriosis and glutathione S-transferase M1, T1 genes of the Uygurs and Hans in Xinjiang]. via openalex
- Role of IL-18 in pathogenesis of endometriosis via openalex
- The heritability of endometriosis in large Utah families via openalex
- W2024041076 via openalex
- W2140615092 via openalex
- W2105981541 via openalex
- W2102889133 via openalex
- W2053321628 via openalex
- W2040475011 via openalex
- W2098736824 via openalex
- W2085796154 via openalex
- W1972563403 via openalex
- W2045487737 via openalex
- W2083264893 via openalex
- W2169876423 via openalex
- W2078342011 via openalex
- W2049299149 via openalex
- W2065660771 via openalex
- W1505255521 via openalex
- W174381814 via openalex
- W2519692668 via openalex
- W2549541878 via openalex
- W2128319359 via openalex
- W2052873840 via openalex
- W2133291901 via openalex
- W2009706138 via openalex
Cited by (50)
- Prediction of genomic biomarkers for endometriosis using the transcriptomic dataset 2025
- Co-occurrence of endometriosis with psoriasis and psoriatic arthritis: Genetic insights (Review) 2025
- Association of endometriosis with Sjögren's syndrome: Genetic insights (Review) 2024
- Endometriosis: Features and potential role of medicinal cannabis 2023
- The Clinical Picture and Fecundity of Primary and Recurrent Ovarian Endometriosis with Family History: A Retrospective Analysis 2023
- Genetic polymorphisms in eostrogen and progesterone receptor genes in <i>Papio anubis</i> induced with endometriosis during early stage of the disease 2021
- P1 promoter IGF-1 polymorphism and IGF-1, IGF-R, LSF, and TSG 101 expression profile in endometriosis 2021
- Estimation of the polymorphism of matrix metal proteinase genes in patients with endometrioid ovarian cysts 2021
- Endometriosis Associated Infertility: A Critical Review and Analysis on Etiopathogenesis and Therapeutic Approaches 2020
- Introductory Chapter: Changes in the Approach of the Patient with Endometriosis and the Development of Genetics and Molecular Biology in Gynecology 2019
- Progesterone Resistance and Adult Stem Cells’ Genomic and Epigenetic Changes in the Puzzle of Endometriosis 2019
- Faculty Opinions recommendation of Copy number variation analysis reveals additional variants contributing to endometriosis development. 2019
- Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis 2017
- Characteristics of Human Endometrium-Derived Mesenchymal Stem Cells and Their Tropism to Endometriosis 2017
- Spontaneous endometriosis in rhesus macaques: evidence for a genetic association with specific <i>Mamu-A1</i> alleles 2017
- Copy number variation analysis reveals additional variants contributing to endometriosis development 2016
- A current view of the role of epigenetic changes in the aetiopathogenesis of endometriosis 2015
- COX-2 gene promoter DNA methylation status in eutopic and ectopic endometrium of Egyptian women with endometriosis 2015
- Predisposing and Protective Factors of Endometriosis 2015
- ¿Puede ser una apendicitis aguda la primera manifestación de endometriosis? 2015
- Evaluation of Tumor Necrosis Factor Alpha Polymorphism Frequencies in Endometriosis. 2015
- Pain related genes in endometriosis: A meta-analysis 2015
- Endometrioos – anamneesist diagnoosini 2014
- Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes 2014
- Study of association between promoter tumor necrosing factor alpha gene polymorphisms in -850T/C, -863 A/C, and endometriosis 2014
- Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes 2014
- Screening of a panel of steroid-related genes showed polymorphisms of aromatase genes confer susceptibility to advanced stage endometriosis in the Taiwanese Han population 2013
- Prevalence and Polymorphism in Interferon-γ Gene (CA) Repeats with Different Stages of Endometriosis 2013
- NME1 suppression promotes growth, adhesion and implantation of endometrial stromal cells via Akt and MAPK/Erk1/2 signal pathways in the endometriotic milieu 2013
- Association of GSTP1 −313A/G polymorphisms and endometriosis risk: a meta-analysis of case–control studies 2013
- Molecular Pathology and Therapy of Endometriosis: Revisited 2013
- Understanding the pathogenesis of endometriosis through proteomics: Recent advances and future prospects 2013
- Tumor Necrosis Factor and Interleukin‐6 Gene Polymorphisms and Endometriosis Risk in Asians: A Systematic Review and Meta‐Analysis 2013
- Western Herbal Medicine, Epigenetics, and Endometriosis 2013
- Possible effects of endometriosis-related immune events on reproductive function 2013
- Estrogen receptors and human disease: an update 2012
- C-reactive protein of serum and peritoneal fluid in endometriosis. 2012
- Perspectives of New Therapies for Endometriosis 2012
- Cyclooxygenase‐2 (<scp><i>COX</i></scp><i>‐2</i>) Gene‐765G/C Polymorphism and Advanced‐Stage Endometriosis in Korean Women 2012
- CXCL8 enhances proliferation and growth and reduces apoptosis in endometrial stromal cells in an autocrine manner via a CXCR1-triggered PTEN/AKT signal pathway 2012
- Polimorfismos genéticos e endometriose: A contribuição dos genes que regulam a função vascular e o remodelamento de tecidos 2012
- Polimorfismos genéticos e endometriose: A contribuição dos genes que regulam a função vascular e o remodelamento de tecidos 2012
- Polimorfismos genéticos e endometriose: A contribuição dos genes que regulam a função vascular e o remodelamento de tecidos 2012
- Role of Estrogen Receptor Signaling Required for Endometriosis-Like Lesion Establishment in a Mouse Model 2012
- TP53 PIN3 and PEX4 polymorphisms and infertility associated with endometriosis or with post-in vitro fertilization implantation failure 2012
- Role of Eutopic Endometrium in Pelvic Endometriosis 2011
- Treatment with Bazedoxifene, a Selective Estrogen Receptor Modulator, Causes Regression of Endometriosis in a Mouse Model 2011
- КЛИНИКО-МОРФОЛОГИЧЕСКИЙ АНАЛИЗ ГЕНИТАЛЬНОГО ЭНДОМЕТРИОЗА 2011
- Endometriosis: ways of the decision of a problem to the XXI century 2011
- Dienogest: an oral progestogen for the treatment of endometriosis 2010
Source provenance
- europepmc
- last seen: 2026-09-26T06:15:21.694264+00:00
- openalex
- last seen: 2026-06-10T17:14:06.276822+00:00
- pubmed
- last seen: 2026-05-13T22:15:41.664291+00:00
- unpaywall
- last seen: 2026-09-26T06:30:31.687879+00:00
License: CC0
· commercial use OK