Genetic influences on endometriosis in an Australian twin sample
Open accessAbstract
Objective To investigate the prevalence of and twin pair concordance for endometriosis.Design A questionnaire survey incorporating validation.Setting An Australia-wide volunteer sample of female monozygotic (MZ) and dizygotic (DZ) twin pairs from the Australian National Health and Medical Research Council Twin Register.Patient(s) Twins were selected only on the basis of previous participation in twin research.Intervention(s) Questionnaires were sent to 3,298 individuals. Information was requested from physicians named by consenting twins.Main outcome measure(s) Reported endometriosis, validated where possible by pathology or surgical report.Result(s) Three thousand ninety-six (94%) of the twins and 145 (82%) of the physicians responded to the survey. Two hundred fifteen twins reported endometriosis, for a prevalence rate of .07 among question respondents. Tetrachoric twin pair correlations for self-reported endometriosis (MZ: n = 854 and DZ: n = 493) were rMz = .46+/-.09 and rDz = .28 +/-.13. When available medical and pathology reports were included, they changed to rMz =.52 +/-.08 and rDZ = .19+/-.16, suggesting that 51% of the variance of the latent liability to endometriosis may be attributable to additive genetic influences.Conclusion(s) These findings support the hypothesis that genes influence liability to endometriosis.
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Studies in Australian twins, the Icelandic population, and rhesus macaques provide strong evidence for a genetic contribution to endometriosis, with heritability estimated to be around 50%.
“However, studies in Australian twins, 45 in the Icelandic population, 43 and in rhesus macaques 49 provide strong evidence for a genetic contribution to the disease with the heritability of endometriosis estimated to be around 50%. 45”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [45]
In twin sisters, prevalence of endometriosis and age of onset are similar.
“In twin sisters a prevalence of endometriosis (158-161) and age of onset (162) are similar.”
From Pathogenesis of deep endometriosis (2017) · cites this paper as [161]
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Cites
Akaike, H. (1987) · Psychometrika · doi:10.1007/bf02294359 · Cited by 5,264 · see citing works
Akaike, H. (1987) · Springer Series in Statistics · doi:10.1007/978-1-4612-1694-0_29 · Cited by 4,027 · see citing works
Methodology for Genetic Studies of Twins and Families
Neale, M. C., & Cardon, L. R. (1992) · doi:10.1007/978-94-015-8018-2 · Cited by 4,005 · see citing works
Revised American Society for Reproductive Medicine classification of endometriosis: 1996
American Society for Reproductive Medicine (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)81391-x · Cited by 3,018 · see citing works
Case-Control Studies: Design, Conduct, Analysis.
Youkeles, L., & Schlesselman, J. J. (1983) · Journal of the American Statistical Association · doi:10.2307/2288156 · Cited by 2,358 · see citing works
Revised American Fertility Society Classification of Endometriosis: 1985
(1985) · Fertility and Sterility · doi:10.1016/s0015-0282(16)48430-x · Cited by 1,803 · see citing works
Eskenazi, B., & Warner, M. L. (1997) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/s0889-8545(05)70302-8 · Cited by 1,617 · see citing works
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
RISCH, N. J. (1990) · PubMed · Cited by 868 · see citing works
Heath, A. C., Bucholz, K. K., Madden, P. A. F., Dinwiddie, S. H., Slutske, W. S., Bierut, L. J., Statham, D. J., Dunne, M. P., Whitfield, J. B., & Martin, N. G. (1997) · Psychological Medicine · doi:10.1017/s0033291797005643 · Cited by 846 · see citing works
Self-citationGenes, culture, and personality : an empirical approach
Eaves, L. J., Eysenck, H. J., & Martin, N. G. (1989) · Cited by 637 · see citing works
Self-citationThe power of the classical twin study
Martin, N. G., Eaves, L. J., Kearsey, M. J., & Davies, P. H. O. (1978) · Heredity · doi:10.1038/hdy.1978.10 · Cited by 509 · see citing works
Self-citationRier, S. (1993) · Fundamental and Applied Toxicology · doi:10.1006/faat.1993.1119 · Cited by 502 · see citing works
Heritable aspects of endometriosis
Simpson, J. L., Elias, S., Malinak, L. R., & Buttram, V. C. (1980) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(80)90917-5 · Cited by 468 · see citing works
Heath, A. C., Cloninger, C. R., & Martin, N. G. (1994) · Journal of Personality and Social Psychology · doi:10.1037//0022-3514.66.4.762 · Cited by 427 · see citing works
Self-citationEath, A. C. H., Ucholz, K. K. B., Adden, P. A. F. M., Inwiddie, S. H. D., Lutske, W. S. S., Ierut, L. J. B., Tatham, D. J. S., Hitfield, J. B. W., & Artin, N. G. M. (1997) · Cited by 423 · see citing works
Introduction to Biometrical Genetics
Mather, K., & Jinks, J. L. (1977) · Springer eBooks · doi:10.1007/978-94-009-5787-9 · Cited by 394 · see citing works
Genetic covariation between neuroticism and the symptoms of anxiety and depression
Jardine, R., Martin, N. G., Henderson, A. S., & Rao, D. C. (1984) · Genetic Epidemiology · doi:10.1002/gepi.1370010202 · Cited by 351 · see citing works
Self-citationNonpigmented endometriosis: Clinical, laparoscopic, and pathologic definition
Jansen, R. P. S., & Russell, P. (1986) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(86)90136-5 · Cited by 345 · see citing works
Heath, A. C., Cloninger, C. R., & Martin, N. G. (1994) · Journal of Personality and Social Psychology · doi:10.1037/0022-3514.66.4.762 · Cited by 314 · see citing works
Self-citationTesting structural equation models for twin data using LISREL
Heath, A. C., Neale, M. C., Hewitt, J. K., Eaves, L. J., & Fulker, D. W. (1989) · Behavior Genetics · doi:10.1007/bf01065881 · Cited by 311 · see citing works
The familial risk of endometriosis
Moen, M. H., & Magnus, P. (1993) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.3109/00016349309058164 · Cited by 248 · see citing works
(1991) · PubMed · Cited by 202 · see citing works
Martin, N. G., & Martin, P. G. (1975) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1975.tb00124.x · Cited by 193 · see citing works
Self-citationAge at menarche as a fitness trait: nonadditive genetic variance detected in a large twin sample.
Treloar, S. A., & Martin, N. G. (1990) · Europe PMC (PubMed Central) · Cited by 173 · see citing works
Self-citationEndometriosis in monozygotic twins
Hadfield, R. M., Mardon, H. J., Barlow, D. H., & Kennedy, S. H. (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)00359-2 · Cited by 166 · see citing works
Kennedy, S., Mardon, H., & Barlow, D. (1995) · Journal of Assisted Reproduction and Genetics · doi:10.1007/bf02214126 · Cited by 157 · see citing works
Genetics of educational attainment in Australian twins: Sex differences and secular changes
Baker, L. A., Treloar, S. A., Reynolds, C. A., Heath, A. C., & Martin, N. G. (1996) · Behavior Genetics · doi:10.1007/bf02359887 · Cited by 147 · see citing works
Self-citationZygosity Diagnosis of Twins by Questionnaire
Ooki, S., Yamada, K., Asaka, A., & Hayakawa, K. (1990) · Acta geneticae medicae et gemellologiae · doi:10.1017/s0001566000005626 · Cited by 138 · see citing works
Fitting genetic models with LISREL: Hypothesis testing
Neale, M. C., Heath, A. C., Hewitt, J. K., Eaves, L. J., & Fulker, D. W. (1989) · Behavior Genetics · doi:10.1007/bf01065882 · Cited by 134 · see citing works
Dioxin pollution and endometriosis in Belgium
Koninckx, P. R., Braet, P., Kennedy, S., & Barlow, D. H. (1994) · Human Reproduction · doi:10.1093/oxfordjournals.humrep.a138623 · Cited by 132 · see citing works
Etiology and epidemiology of endometriosis
Barbieri, R. L. (1990) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(90)90430-f · Cited by 126 · see citing works
Endometriosis in monozygotic twins
Moen, M. H. (1994) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.3109/00016349409013396 · Cited by 114 · see citing works
Kendler, K. S., Silberg, J. L., Neale, M. C., Kessler, R. C., Heath, A. C., & Eaves, L. J. (1992) · Psychological Medicine · doi:10.1017/s0033291700032761 · Cited by 111 · see citing works
Kennedy, S. (1999) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/s0301-2115(98)00213-9 · Cited by 110 · see citing works
Introduction to Biometrical Genetics
Mather, K., & Jinks, J. L. (1978) · Springer eBooks · doi:10.1007/978-1-4613-3387-6 · Cited by 110 · see citing works
Status of current research on endometriosis.
Giudice, L. C., Tazuke, S. I., & Swiersz, L. M. (1998) · PubMed · Cited by 107 · see citing works
Family trait analysis: A case-control study of 43 women with endometriosis and their best friends
Lamb, K., Hoffmann, R. G., & Nichols, T. R. (1986) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(86)90608-3 · Cited by 98 · see citing works
Familial inheritance of endometriosis in a British population. A case control study
Coxhead, D., & Thomas, E. J. (1993) · Journal of Obstetrics and Gynaecology · doi:10.3109/01443619309151773 · Cited by 97 · see citing works
Pathways to hysterectomy: Insights from longitudinal twin research
Treloar, S. A., Martin, N. G., Dennerstein, L., Raphael, B., & Heath, A. C. (1992) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(11)91632-9 · Cited by 92 · see citing works
Self-citationRisk factors for endometriosis in the rhesus monkey (Macaca mulatta): a case-control study
Hadfield, R. (1997) · Human Reproduction Update · doi:10.1093/humupd/3.2.109 · Cited by 86 · see citing works
Genes, Culture, and Personality
(1989) · Elsevier eBooks · doi:10.1016/c2009-0-02796-2 · Cited by 81 · see citing works
The Epidemiology of Pelvic Endometriosis
Houston, D. E., Noller, K. L., Melton, L. J., & Selwyn, B. J. (1988) · Clinical Obstetrics & Gynecology · doi:10.1097/00003081-198812000-00005 · Cited by 80 · see citing works
Treloar, S. A., Martin, N. G., & Heath, A. C. (1998) · Behavior Genetics · doi:10.1023/a:1021419907305 · Cited by 65 · see citing works
Self-citationTwins reared together: Minimizing shared environmental effects
Grayson, D. A. (1989) · Behavior Genetics · doi:10.1007/bf01066256 · Cited by 64 · see citing works
Age of onset of pain symptoms in non-twin sisters concordant for endometriosis
Kennedy, S., Hadfield, R., Mardon, H., & Barlow, D. (1996) · Human Reproduction · doi:10.1093/humrep/11.2.403 · Cited by 63 · see citing works
Semino, C., Semino, A., Pietra, G., Mingari, M. C., Barocci, S., Venturini, P. L., Ragni, N., & Melioli, G. (1995) · Fertility and Sterility · doi:10.1016/s0015-0282(16)57901-1 · Cited by 62 · see citing works
Shin, J.-C., Ross, H. L., Elias, S., Nguyen, D. D., Mitchell‐Leef, D., Simpson, J. L., & Bischoff, F. Z. (1997) · Human Genetics · doi:10.1007/s004390050524 · Cited by 59 · see citing works
The genetics of endometriosis.
Kennedy, S. (1998) · PubMed · Cited by 49 · see citing works
Wardle, P. G., & Hull, M. G. R. (1993) · Baillière s Clinical Obstetrics and Gynaecology · doi:10.1016/s0950-3552(05)80457-2 · Cited by 44 · see citing works
Endometriosis. IV. Hereditary tendency.
RANNEY, B. (1971) · PubMed · Cited by 43 · see citing works
Possible risk of endometriosis for Seveso, Italy, residents: an assessment of exposure to dioxin.
Bois, F. Y., & Eskenazi, B. (1994) · Environmental Health Perspectives · doi:10.1289/ehp.94102476 · Cited by 41 · see citing works
Sexual Activity, Contraception, and Reproductive Factors in Predicting Endometriosis
Darrow, S. L., Selman, S., Batt, R. E., Zielezny, M. A., & Vena, J. E. (1994) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a117276 · Cited by 37 · see citing works
Silberg, J. L., Martin, N. G., & Heath, A. C. (1987) · Behavior Genetics · doi:10.1007/bf01068137 · Cited by 37 · see citing works
Self-citationOf biases and more in the study of twins reared together: A reply to grayson
Hewitt, J. K. (1989) · Behavior Genetics · doi:10.1007/bf01066257 · Cited by 36 · see citing works
The Current Status of Endometriosis: Research and Management
Donnez, J., & Brosens, I. A. (1993) · DIAL (Catholic University of Leuven) · Cited by 34 · see citing works
EVIDENCE FOR POLYGENIC EPISTATIC INTERACTIONS IN MAN?
Heath, A. C., Martin, N. G., Eaves, L. J., & Loesch, D. Z. (1984) · Genetics · doi:10.1093/genetics/106.4.719 · Cited by 32 · see citing works
Self-citationEndometriosis: genetic and immunologic aspects.
Dmowski, W. P., Braun, D., & Gebel, H. M. (1990) · PubMed · Cited by 29 · see citing works
Immune dysfunction – a potential target for treatment in endometriosis
Gleicher, N. (1995) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1995.tb09158.x · Cited by 21 · see citing works
Minimal and mild endometriosis. Is there anything new under the sun?
Vercellini, P., & Crosignani, P. G. (1993) · PubMed · Cited by 15 · see citing works
Flagged first, then by citations
1 of the 60 references couldn’t be matched to a known paper.
Research works printed but not linked: 4
- Simpson J, Elias S, Malinak L, Buttram V. Hereditable aspects of endo- metriosis. I. Genetic studies. Am J Obstet Gynecol 1980;137:327-31.
- Martin N, Jardine R. Eysenck's contributions to behaviour genetics. In: Modgil S, Modgil C, editors. Hans Eysenck: consensus and contro- versy. Philadelphia: Falmer Press, 1986:13-47.
- Duffy D. Asthma and allergic diseases in Australian twins and their families [thesis]. Brisbane, Australia: University of Queensland, 1994.
- Eaves L. Aspects of human psychogenetics [dissertation]. University of Birmingham, 1970.
Cited by
Sorted by citations
Giudice, L. C., & Kao, L. C. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17403-5 · Cited by 3,166 · see citing works
Endometriosis is a chronic systemic disease: Clinical challenges and novel innovations
Taylor, H. S., Kotlyar, A. M., & Flores, V. A. (2021) · The Lancet · doi:10.1016/s0140-6736(21)00389-5 · Cited by 1,425 · see citing works
Rethinking mechanisms, diagnosis and management of endometriosis
Chapron, C., Marcellin, L., Borghese, B., & Santulli, P. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0245-z · Cited by 1,084 · see citing works
Simoens, S., Dunselman, G., Dirksen, C., Hummelshoj, L., Bokor, A., Brandes, I., Brodszky, V., Canis, M., Colombo, G. L., DeLeire, T., et al. (2012) · Human Reproduction · doi:10.1093/humrep/des073 · Cited by 1,070 · see citing works
Bulun, S. E., Yilmaz, B. D., Sison, C., Miyazaki, K., Bernardi, L., Liu, S., Kohlmeier, A., Yin, P., Milad, M., & Wei, J. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00242 · Cited by 844 · see citing works
Pathophysiology, diagnosis, and management of endometriosis
Horne, A. W., & Missmer, S. A. (2022) · BMJ · doi:10.1136/bmj-2022-070750 · Cited by 661 · see citing works
The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights
Laganà, A. S., Garzon, S., Götte, M., Viganò, P., Franchi, M. P., Ghezzi, F., & Martin, D. C. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225615 · Cited by 492 · see citing works
Pathogenesis of endometriosis: The genetic/epigenetic theory
Koninckx, P. R., Ussia, A., Adamyan, L., Wattiez, A., Gomel, V., & Martin, D. C. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.10.013 · Cited by 427 · see citing works
Endometriosis: The pathophysiology as an estrogen-dependent disease
Kitawaki, J., Kado, N., Ishihara, H., Koshiba, H., Kitaoka, Y., & Honjo, H. (2002) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(02)00260-1 · Cited by 370 · see citing works
Priorities for Endometriosis Research: Recommendations From an International Consensus Workshop
Rogers, P. A. W., D’Hooghe, T. M., Fazleabas, A., Gargett, C. E., Giudice, L. C., Montgomery, G. W., Rombauts, L., Salamonsen, L. A., & Zondervan, K. T. (2009) · Reproductive Sciences · doi:10.1177/1933719108330568 · Cited by 346 · see citing works
Sapkota, Y., Steinthorsdottir, V., Morris, A. P., Fassbender, A., Rahmioglu, N., De Vivo, I., Buring, J. E., Zhang, F., Edwards, T. L., Jones, S., et al. (2017) · Nature Communications · doi:10.1038/ncomms15539 · Cited by 344 · see citing works
Self-citationEndometriosis-associated infertility: From pathophysiology to tailored treatment
Bonavina, G., & Taylor, H. S. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1020827 · Cited by 359 · see citing works
Genome-wide association meta-analysis identifies new endometriosis risk loci
Nyholt, D. R., Low, S.-K., Anderson, C. A., Painter, J. N., Uno, S., Morris, A. P., MacGregor, S., Gordon, S. D., Henders, A. K., Martin, N. G., et al. (2012) · Nature Genetics · doi:10.1038/ng.2445 · Cited by 315 · see citing works
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Rahmioğlu, N., Mortlock, S., Ghiasi, M., Møller, P. L., Stefánsdóttir, L., Galarneau, G., Turman, C., Danning, R., Law, M. H., Sapkota, Y., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01323-z · Cited by 311 · see citing works
Self-citationGenome-wide association study identifies a locus at 7p15.2 associated with endometriosis
Painter, J. N., Anderson, C. A., Nyholt, D. R., Macgregor, S., Lin, J., Lee, S. H., Lambert, A., Zhao, Z. Z., Roseman, F., Guo, Q., et al. (2011) · Nature Genetics · doi:10.1038/ng.731 · Cited by 308 · see citing works
Self-citationAngiogenic Factors in Endometriosis
Taylor, R. N., Lebovic, D. I., & Mueller, M. D. (2002) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2002.tb02769.x · Cited by 304 · see citing works
Vinatier, D., Orazi, G., Cosson, M., & Dufour, P. (2001) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/s0301-2115(00)00405-x · Cited by 299 · see citing works
What makes a good case–control study?
Zondervan, K. T., Cardon, L. R., & Kennedy, S. H. (2002) · Human Reproduction · doi:10.1093/humrep/17.6.1415 · Cited by 271 · see citing works
As‐Sanie, S., Mackenzie, S. C., Morrison, L., Schrepf, A., Zondervan, K. T., Horne, A. W., & Missmer, S. A. (2025) · JAMA · doi:10.1001/jama.2025.2975 · Cited by 305 · see citing works
Pathogenesis of deep endometriosis
Gordts, S., Koninckx, P., & Brosens, I. (2017) · Fertility and Sterility · doi:10.1016/j.fertnstert.2017.08.036 · Cited by 241 · see citing works
Rahmioglu, N., Nyholt, D. R., Morris, A. P., Missmer, S. A., Montgomery, G. W., & Zondervan, K. T. (2014) · Human Reproduction Update · doi:10.1093/humupd/dmu015 · Cited by 238 · see citing works
Endometriosis-Associated Macrophages: Origin, Phenotype, and Function
Hogg, C., Horne, A. W., & Greaves, E. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00007 · Cited by 241 · see citing works
Genetic factors contribute to the risk of developing endometriosis
Stefansson, H., Geirsson, R. T., Steinthorsdottir, V., Jonsson, H., Manolescu, A., Kong, A., Ingadottir, G., Gulcher, J., & Stefansson, K. (2002) · Human Reproduction · doi:10.1093/humrep/17.3.555 · Cited by 228 · see citing works
Endometriosis and ovarian cancer: Thoughts on shared pathophysiology
Ness, R. B. (2003) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2003.408 · Cited by 227 · see citing works
Saha, R., Pettersson, H. J., Svedberg, P., Olovsson, M., Bergqvist, A., Marions, L., Tornvall, P., & Kuja-Halkola, R. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.06.035 · Cited by 211 · see citing works
The search for genes contributing to endometriosis risk
Montgomery, G. W., Nyholt, D. R., Zhao, Z. Z., Treloar, S. A., Painter, J. N., Missmer, S. A., Kennedy, S. H., & Zondervan, K. T. (2008) · Human Reproduction Update · doi:10.1093/humupd/dmn016 · Cited by 211 · see citing works
Self-citationPathogenesis of Endometriosis: The Origin of Pain and Subfertility
Gruber, T. M., & Mechsner, S. (2021) · Cells · doi:10.3390/cells10061381 · Cited by 202 · see citing works
Extrapelvic endometriosis: a rare entity or an under diagnosed condition?
Machairiotis, N., Stylianaki, A., Dryllis, G., Zarogoulidis, P., Kouroutou, P., Tsiamis, N., Katsikogiannis, N., Sarika, E., Courcoutsakis, N. A., Tsiouda, T., et al. (2013) · Diagnostic Pathology · doi:10.1186/1746-1596-8-194 · Cited by 199 · see citing works
Treloar, S. A., Wicks, J., Nyholt, D. R., Montgomery, G. W., Bahlo, M., Smith, V. E., Dawson, G., Mackay, I., Weeks, D. E., Bennett, S. T., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/432960 · Cited by 195 · see citing works
Self-citationDiagnosis of endometriosis in the 21st century
Kiesel, L., & Sourouni, M. (2019) · Climacteric · doi:10.1080/13697137.2019.1578743 · Cited by 192 · see citing works
In utero exposures and the incidence of endometriosis
Missmer, S. A., Hankinson, S. E., Spiegelman, D., Barbieri, R. L., Michels, K. B., & Hunter, D. J. (2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.04.065 · Cited by 184 · see citing works
Recent insights on the genetics and epigenetics of endometriosis
Borghese, B., Zondervan, K. T., Abrão, M. S., Chapron, C., & Vaiman, D. (2016) · Clinical Genetics · doi:10.1111/cge.12897 · Cited by 162 · see citing works
Genome-Wide Association Study Link Novel Loci to Endometriosis
Albertsen, H. M., Chettier, R., Farrington, P., & Ward, K. (2013) · PLoS ONE · doi:10.1371/journal.pone.0058257 · Cited by 161 · see citing works
Rogers, P. A. W., D’Hooghe, T. M., Fazleabas, A., Giudice, L. C., Montgomery, G. W., Petraglia, F., & Taylor, R. N. (2013) · Reproductive Sciences · doi:10.1177/1933719113477495 · Cited by 154 · see citing works
Early menstrual characteristics associated with subsequent diagnosis of endometriosis
Treloar, S. A., Bell, T. A., Nagle, C. M., Purdie, D. M., & Green, A. C. (2010) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2009.10.857 · Cited by 147 · see citing works
Self-citationPathogenesis of endometriosis: the role of genetics, inflammation and oxidative stress
Augoulea, A., Alexandrou, A. P., Creatsa, M. G., Vrachnis, N., & Lambrinoudaki, I. V. (2012) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-012-2357-8 · Cited by 140 · see citing works
The genetic basis of endometriosis
Zondervan, K. T., Cardon, L. R., & Kennedy, S. (2001) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/00001703-200106000-00011 · Cited by 131 · see citing works
Batt, M. M., Duffy, K. A., Novick, A. M., Metcalf, C. A., & Epperson, C. N. (2020) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/appi.focus.20190045 · Cited by 137 · see citing works
New considerations for the pathogenesis of endometriosis
Gazvani, R., & Templeton, A. (2002) · International Journal of Gynecology & Obstetrics · doi:10.1016/s0020-7292(01)00577-x · Cited by 127 · see citing works
GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer
Baxter, S. W. (2001) · Carcinogenesis · doi:10.1093/carcin/22.1.63 · Cited by 124 · see citing works
Filip, L., Duică, F., Prădatu, A., Crețoiu, D., Suciu, N., Creţoiu, S. M., Predescu, D. V., Varlas, V. N., & Voinea, S.-C. (2020) · Medicina · doi:10.3390/medicina56090460 · Cited by 128 · see citing works
Fruit and vegetable consumption and risk of endometriosis
Harris, H. R., Eke, A. C., Chavarro, J. E., & Missmer, S. A. (2018) · Human Reproduction · doi:10.1093/humrep/dey014 · Cited by 109 · see citing works
Molecular Basis of Endometriosis and Endometrial Cancer: Current Knowledge and Future Perspectives
Terzić, M., Aimagambetova, G. N., Kunz, J., Bapayeva, G., Aitbayeva, B., Terzic, S., & Laganà, A. S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179274 · Cited by 111 · see citing works
Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis
Tempfer, C. M., Simoni, M., Destenaves, B., & Fauser, B. C. J. M. (2008) · Human Reproduction Update · doi:10.1093/humupd/dmn040 · Cited by 107 · see citing works
Dawson, A., Llauradó Fernandez, M., Anglesio, M., Yong, P. J., & Carey, M. S. (2018) · ecancermedicalscience · doi:10.3332/ecancer.2018.803 · Cited by 106 · see citing works
Uimari, O., Rahmioğlu, N., Nyholt, D. R., Vincent, K., Missmer, S. A., Becker, C. M., Morris, A. P., Montgomery, G. W., & Zondervan, K. T. (2017) · Human Reproduction · doi:10.1093/humrep/dex024 · Cited by 107 · see citing works
Epithelial Mutations in Endometriosis: Link to Ovarian Cancer
Bulun, S. E., Wan, Y., & Matei, D. E. (2019) · Endocrinology · doi:10.1210/en.2018-00794 · Cited by 103 · see citing works
Adachi, S., Tajima, A., Quan, J., Haino, K., Yoshihara, K., Masuzaki, H., Katabuchi, H., Ikuma, K., Suginami, H., Nishida, N., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.118 · Cited by 103 · see citing works
Adolescent Endometriosis: An Update
Shim, J. Y., & Laufer, M. R. (2019) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2019.11.011 · Cited by 109 · see citing works
Kado, N. (2002) · Human Reproduction · doi:10.1093/humrep/17.4.897 · Cited by 100 · see citing works
Familial aggregation of endometriosis in a large pedigree of rhesus macaques
Zondervan, K. T. (2004) · Human Reproduction · doi:10.1093/humrep/deh052 · Cited by 99 · see citing works
Han, S. J., & O’Malley, B. W. (2014) · Human Reproduction Update · doi:10.1093/humupd/dmu002 · Cited by 98 · see citing works
Giudice, L. C., Oskotsky, T., Falako, S., Opoku‐Anane, J., & Sirota, M. (2023) · The FASEB Journal · doi:10.1096/fj.202300907 · Cited by 105 · see citing works
Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis
Zubrzycka, A., Zubrzycki, M., Perdas, E., & Zubrzycka, M. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9051309 · Cited by 97 · see citing works
The international endogene study: a collection of families for genetic research in endometriosis
Treloar, S. A., Hadfield, R. M., Montgomery, G. W., Lambert, A. W., Wicks, J., Barlow, D. H., O’Connor, D. T., & Kennedy, S. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(02)03341-1 · Cited by 90 · see citing works
Self-citationPolymorphisms and endometriosis: A systematic review and meta-analyses
Méar, L., Herr, M., Fauconnier, A., Pineau, C., & Vialard, F. (2020) · Human Reproduction Update · doi:10.1093/humupd/dmz034 · Cited by 85 · see citing works
Rahmioglu, N., Macgregor, S., Drong, A. W., Hedman, A. K., Harris, H. R., Randall, J. C., Prokopenko, I., The International Endogene Consortium (IEC), T. G. C., Nyholt, D. R., Morris, A. P., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu516 · Cited by 85 · see citing works
Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient
Rahmioglu, N., Morris, A., Nyholt, D., Montgomery, G., Becker, C., Missmer, S., & Zondervan, K. (2016) · Seminars in Reproductive Medicine · doi:10.1055/s-0036-1585408 · Cited by 84 · see citing works
Endometriosis from thelarche to midteens: pathogenesis and prognosis, prevention and pedagogy
Batt, R. E., & Mitwally, M. F. (2003) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2003.09.008 · Cited by 85 · see citing works
Painter, J. N., O’Mara, T. A., Morris, A. P., Cheng, T. H. T., Gorman, M., Martin, L. M., Hodson, S., Jones, A., Martin, N. G., Gordon, S. D., et al. (2018) · Cancer Medicine · doi:10.1002/cam4.1445 · Cited by 81 · see citing works
Self-citationShift Work, hCLOCK T3111C Polymorphism, and Endometriosis Risk
Marino, J. L., Holt, V. L., Chen, C., & Davis, S. (2008) · Epidemiology · doi:10.1097/ede.0b013e31816b7378 · Cited by 80 · see citing works
Genetic aspects of female reproduction
The ESHRE Capri Workshop Group (2008) · Human Reproduction Update · doi:10.1093/humupd/dmn009 · Cited by 79 · see citing works
Pathogenesis of Endometriosis and Endometriosis-Associated Cancers
Adilbayeva, A., & Kunz, J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25147624 · Cited by 88 · see citing works
The bidirectional relationship between endometriosis and microbiome
Uzuner, C., Mak, J., El‐Assaad, F., & Condous, G. S. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1110824 · Cited by 77 · see citing works
The role of gene polymorphisms in endometriosis
Matalliotakis, M., Zervou, M. I., Matalliotaki, C., Rahmioglu, N., Koumantakis, G., Kalogiannidis, I., Prapas, I., Zondervan, K., Spandidos, D. A., Matalliotakis, I., et al. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.7398 · Cited by 75 · see citing works
Impact of lifestyle and diet on endometriosis: a fresh look to a busy corner
Habib, N., Buzzaccarini, G., Centini, G., Moawad, G., Ceccaldi, P., Gitas, G., Alkatout, İ., Gullo, G., Terzic, S., & Sleiman, Z. (2022) · Menopause Review/Przegląd Menopauzalny · doi:10.5114/pm.2022.116437 · Cited by 75 · see citing works
Association between endometriosis and the interleukin 1A (IL1A) locus
Sapkota, Y., Low, S., Attia, J., Gordon, S. D., Henders, A. K., Holliday, E. G., MacGregor, S., Martin, N. G., McEvoy, M., Morris, A. P., et al. (2014) · Human Reproduction · doi:10.1093/humrep/deu267 · Cited by 75 · see citing works
Self-citationAdewuyi, E. O., Mehta, D., Sapkota, Y., Sapkota, Y., Yoshihara, K., Nyegaard, M., Steinthórsdóttir, V., Morris, A. P., Fassbender, A., Rahmioğlu, N., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02223-6 · Cited by 73 · see citing works
Self-citationRahmioğlu, N., Montgomery, G. W., & Zondervan, K. T. (2015) · Women s Health · doi:10.2217/whe.15.41 · Cited by 73 · see citing works
Endometriosis: candidate genes
Campbell, I. (2001) · Human Reproduction Update · doi:10.1093/humupd/7.1.15 · Cited by 74 · see citing works
Insights into assessing the genetics of endometriosis
Rahmioglu, N., Missmer, S. A., Montgomery, G. W., & Zondervan, K. T. (2012) · Current Obstetrics and Gynecology Reports · doi:10.1007/s13669-012-0016-5 · Cited by 71 · see citing works
New concepts on the etiology of endometriosis
Cousins, F. L., McKinnon, B. D., Mortlock, S., Fitzgerald, H. C., Zhang, C., Montgomery, G. W., & Gargett, C. E. (2023) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15549 · Cited by 82 · see citing works
Age-Related Differences in Quality of Life in Swedish Women with Endometriosis
Lövkvist, L., Boström, P., Edlund, M., & Olovsson, M. (2016) · Journal of Women s Health · doi:10.1089/jwh.2015.5403 · Cited by 73 · see citing works
Endometriosis-associated infertility
Buyalos, R. P., & Agarwal, S. K. (2000) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/00001703-200010000-00006 · Cited by 70 · see citing works
Identifying the Biological Basis of GWAS Hits for Endometriosis1
Fung, J. N., Rogers, P. A. W., & Montgomery, G. W. (2015) · Biology of Reproduction · doi:10.1095/biolreprod.114.126458 · Cited by 69 · see citing works
Complex genetics of female fertility
Gajbhiye, R., Fung, J. N., & Montgomery, G. W. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0068-1 · Cited by 69 · see citing works
Giacomini, E., Minetto, S., Piani, L. L., Pagliardini, L., Somigliana, E., & Viganò, P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22169033 · Cited by 66 · see citing works
Endometriosis: New Genetic Approaches and Therapy
Barlow, D. H., & Kennedy, S. (2005) · Annual Review of Medicine · doi:10.1146/annurev.med.55.091902.103805 · Cited by 64 · see citing works
Genetics and Genomics of Endometriosis
Hansen, K. A., & Eyster, K. M. (2010) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0b013e3181db7ca1 · Cited by 63 · see citing works
Common genetic influences underlie comorbidity of migraine and endometriosis
Nyholt, D. R., Gillespie, N. A., Merikangas, K. R., Treloar, S. A., Martin, N. G., & Montgomery, G. W. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20361 · Cited by 63 · see citing works
Self-citationHsieh, Y.-Y., Wang, Y.-K., Chang, C.-C., & Lin, C. (2006) · Molecular Human Reproduction · doi:10.1093/molehr/gal099 · Cited by 63 · see citing works
Whitfield, J. B., Treloar, S. A., Zhu, G., Powell, L. W., & Martin, N. G. (2003) · British Journal of Haematology · doi:10.1046/j.1365-2141.2003.04224.x · Cited by 63 · see citing works
Self-citationGenetics of endometriosis: current status and prospects
Vigano, P. (2007) · Frontiers in Bioscience · doi:10.2741/2308 · Cited by 62 · see citing works
Zondervan, K. T., Treloar, S. A., Lin, J., Weeks, D. E., Nyholt, D. R., Mangion, J., Mackay, I., Cardon, L. R., Martin, N. G., Kennedy, S., et al. (2006) · Human Reproduction · doi:10.1093/humrep/del446 · Cited by 61 · see citing works
Self-citationJones, A. V., Hockley, J. R. F., Hyde, C. L., Gorman, D. N., Sredic-Rhodes, A., Bilsland, J., McMurray, G., Furlotte, N. A., Hu, Y., Hinds, D. A., et al. (2016) · Pain · doi:10.1097/j.pain.0000000000000678 · Cited by 65 · see citing works
Endometriosis: harmful survival of an ectopic tissue
Garai, J. (2006) · Frontiers in bioscience · doi:10.2741/1821 · Cited by 61 · see citing works
Endometriosis risk alleles at 1p36.12 act through inverse regulation ofCDC42andLINC00339
Powell, J. E., Fung, J. N., Shakhbazov, K., Sapkota, Y., Cloonan, N., Hemani, G., Hillman, K. M., Kaufmann, S., Luong, H. T., Bowdler, L. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw320 · Cited by 57 · see citing works
Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population
Nakago, S. (2001) · Molecular Human Reproduction · doi:10.1093/molehr/7.11.1079 · Cited by 58 · see citing works
Genetics of endometriosis: a comprehensive review
Deiana, D., Gessa, S., Anardu, M., Daniilidis, A., Nappi, L., D’Alterio, M. N., Pontis, A., & Angioni, S. L. (2019) · Gynecological Endocrinology · doi:10.1080/09513590.2019.1588244 · Cited by 56 · see citing works
Treloar, S. A., Morley, K. I., Taylor, S. D., & Hall, W. (2007) · Public Health Genomics · doi:10.1159/000099083 · Cited by 55 · see citing works
Self-citationEndometriosis: The way forward
Hompes, P. G. A., & Mijatovic, V. (2007) · Gynecological Endocrinology · doi:10.1080/09513590601010474 · Cited by 55 · see citing works
Evidence of a genetic link between endometriosis and ovarian cancer
Lee, A. W., Templeman, C. E., Stram, D. A., Beesley, J., Tyrer, J. P., Berchuck, A., Pharoah, P. D. P., Chenevix‐Trench, G., Pearce, C. L., Ness, R. B., et al. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.09.023 · Cited by 55 · see citing works
Saha, R., Kuja‐Halkola, R., Tornvall, P., & Marions, L. (2016) · Journal of Women s Health · doi:10.1089/jwh.2016.5795 · Cited by 56 · see citing works
McGrath, I. M., Montgomery, G. W., & Mortlock, S. (2023) · Human Reproduction Update · doi:10.1093/humupd/dmad009 · Cited by 58 · see citing works
Martire, F. G., Giorgi, M., d’Abate, C., Colombi, I., Ginetti, A., Cannoni, A., Fedele, F., Exacoustós, C., Centini, G., Zupi, E., et al. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13020550 · Cited by 58 · see citing works
Family incidence of endometriosis in first-, second-, and third-degree relatives: case-control study
Nouri, K., Ott, J., Krupitz, B., Huber, J. C., & Wenzl, R. J. (2010) · Reproductive Biology and Endocrinology · doi:10.1186/1477-7827-8-85 · Cited by 53 · see citing works
Familial aggregation of endometriosis in the Yale Series
Matalliotakis, I., Arici, A. M., Çakmak, H., Goumenou, A. G., Koumantakis, G. E., & MAHUTTE, N. G. (2008) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-008-0644-1 · Cited by 53 · see citing works
P53 codon 11, 72, and 248 gene polymorphisms in endometriosis
Hsieh, Y., & Lin, C.-S. (2006) · International Journal of Biological Sciences · doi:10.7150/ijbs.2.188 · Cited by 52 · see citing works
Angioni, S. L., D’Alterio, M. N., Coiana, A., Anni, F., Gessa, S., & Deiana, D. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21051765 · Cited by 52 · see citing works
Endometriosis research in the -omics era
Goulielmos, G. N., Matalliotakis, M., Matalliotaki, C., Eliopoulos, E., Matalliotakis, I., & Zervou, M. I. (2020) · Gene · doi:10.1016/j.gene.2020.144545 · Cited by 49 · see citing works
- Authors
- Treloar, S. A., O’Connor, D. T., O’Connor, V. M., & Martin, N. G.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- Corresponding author
- Treloar, Susan A
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 1999-04
- Volume
- 71
- Issue
- 4
- Pages
- 701-710
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2097313599
- Cited by
- 353
- References
- 60
- Citations by year
- 2026: 13 · 2025: 20 · 2024: 11 · 2023: 23 · 2022: 18 · 2021: 18 · 2020: 19 · 2019: 28 · 2018: 19 · 2017: 19 · 2016: 15 · 2015: 13 · 2014: 11 · 2013: 14 · 2012: 11
- FWCI
- 7.54
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Queensland
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Keywords
- endometriosis, genetic susceptibility, twin concordance, monozygotic twins, dizygotic twins, heritability, prevalence, twin registry, additive genetic effects
- MeSH terms
- Adolescent, Adult, Australia, Diseases in Twins, Endometriosis, Female, Humans, Male, Middle Aged, Models, Genetic, Phenotype, Surveys and Questionnaires, Risk Factors, Twins, Dizygotic, Twins, Monozygotic
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