Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works

Haploview: analysis and visualization of LD and haplotype maps

Barrett, J., Fry, B., Maller, J., & Daly, M. (2005) · Bioinform. · doi:10.1093/bioinformatics/bth457 · Cited by 15,086 · see citing works

Statistical Aspects of the Analysis of Data From Retrospective Studies of Disease

(1959) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/22.4.719 · Cited by 14,689 · see citing works

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works

Endometriosis

Giudice, L. C., & Kao, L. C. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17403-5 · Cited by 3,166 · see citing works

Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits

Purcell, S., Cherny, S. S., & Sham, P. C. (2003) · Bioinformatics · doi:10.1093/bioinformatics/19.1.149 · Cited by 2,057 · see citing works

Endometriosis

Bulun, S. E. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0804690 · Cited by 1,772 · see citing works

How to Interpret a Genome-wide Association Study

Pearson, T. A. (2008) · JAMA · doi:10.1001/jama.299.11.1335 · Cited by 964 · 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

The Pains of Endometriosis

Berkley, K. J., Rapkin, A. J., & Papka, R. E. (2005) · Science · doi:10.1126/science.1111445 · Cited by 455 · see citing works

A genotype calling algorithm for affymetrix SNP arrays

Rabbee, N., & Speed, T. P. (2005) · Bioinformatics · doi:10.1093/bioinformatics/bti741 · Cited by 363 · see citing works

Genetic influences on endometriosis in an Australian twin sample

Treloar, S. A., O’Connor, D. T., O’Connor, V. M., & Martin, N. G. (1999) · Fertility and Sterility · doi:10.1016/s0015-0282(98)00540-8 · Cited by 353 · see citing works

Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies

Yamaguchi‐Kabata, Y., Nakazono, K., Takahashi, A., Saito, S., Hosono, N., Kubo, M., Nakamura, Y., & Kamatani, N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.019 · Cited by 348 · see citing works

Heterogeneity in Meta-Analyses of Genome-Wide Association Investigations

Ioannidis, J. P. A., Patsopoulos, N. A., & Εvangelou, Ε. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000841 · Cited by 332 · see citing works

Economic burden of endometriosis

Gao, X., Outley, J., Botteman, M., Spalding, J., Simon, J. A., & Pashos, C. L. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.06.015 · Cited by 289 · see citing works

A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese

Uno, S., Zembutsu, H., Hirasawa, A., Takahashi, A., Kubo, M., Akahane, T., Aoki, D., Kamatani, N., Hirata, K., & Nakamura, Y. (2010) · Nature Genetics · doi:10.1038/ng.612 · Cited by 259 · 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

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

Endometriosis 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

Familial endometriosis

Kennedy, S., Mardon, H., & Barlow, D. (1995) · Journal of Assisted Reproduction and Genetics · doi:10.1007/bf02214126 · Cited by 157 · see citing works

Genome-wide association study of panic disorder in the Japanese population

Otowa, T., Yoshida, E., Sugaya, N., Yasuda, S., Nishimura, Y., Inoue, K., Tochigi, M., Umekage, T., Miyagawa, T., Nishida, N., et al. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2008.17 · Cited by 120 · 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

Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse

Nakaoka, H., & Inoue, I. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.95 · Cited by 111 · 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

Heritability and Molecular Genetic Studies of Endometriosis

Simpson, J. L., & Bischoff, F. Z. (2002) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2002.tb02785.x · Cited by 88 · see citing works

Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals

Nishida, N., Koike, A., Tajima, A., Ogasawara, Y., Ishibashi, Y., Uehara, Y., Inoue, I., & Tokunaga, K. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-431 · Cited by 66 · see citing works

Concentrations of interleukin (IL)-1α, IL-1 soluble receptor type II (IL-1 sRII) and IL-1 receptor antagonist (IL-1 Ra) in the peritoneal fluid and serum of infertile women with endometriosis

Kondera‐Anasz, Z., Sikora, J., Mielczarek‐Palacz, A., & Jońca, M. (2005) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2005.04.019 · Cited by 65 · see citing works

Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13–15

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

Familial risk among Japanese patients with endometriosis

Kashima, K., Ishimaru, T., Okamura, H., Suginami, H., Ikuma, K., Murakami, T., Iwashita, M., & Tanaka, K. (2004) · International Journal of Gynecology & Obstetrics · doi:10.1016/s0020-7292(03)00340-0 · Cited by 48 · see citing works

Variants in EMX2 and PTEN do not contribute to risk of endometriosis

Treloar, S. A., Zhao, Z., Le, L., Zondervan, K. T., Martin, N. G., Kennedy, S. M., Nyholt, D. R., & Montgomery, G. W. (2007) · Molecular Human Reproduction · doi:10.1093/molehr/gam023 · Cited by 40 · see citing works

Genome-wide association database developed in the Japanese Integrated Database Project

Koike, A., Nishida, N., Inoue, I., Tsuji, S., & Tokunaga, K. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.68 · Cited by 26 · see citing works

Integr-ating IL-1α in Antiviral Host Defenses

Fitzgerald, K. A. (2009) · Immunity · doi:10.1016/j.immuni.2009.07.001 · Cited by 5 · see citing works

Inferring tumour purity and stromal and immune cell admixture from expression data

Yoshihara, K., Shahmoradgoli, M., Martínez, E., Vegesna, R., Kim, H., Torres-Garcia, W., Treviño, V., Shen, H., Laird, P. W., Levine, D. A., et al. (2013) · Nature Communications · doi:10.1038/ncomms3612 · Cited by 9,778 · see citing works

Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature)

Smolarz, B., Szyłło, K., & Romanowicz, H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910554 · Cited by 560 · 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

Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium

Suda, K., Nakaoka, H., Yoshihara, K., Ishiguro, T., Tamura, R., Mori, Y., Yamawaki, K., Adachi, S., Takahashi, T., Kase, H., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.07.037 · Cited by 414 · see citing works

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

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

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

Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets

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

Heritability of endometriosis

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

Diagnosis of endometriosis in the 21st century

Kiesel, L., & Sourouni, M. (2019) · Climacteric · doi:10.1080/13697137.2019.1578743 · Cited by 192 · see citing works

Endometriosis: A Disease That Remains Enigmatic

Acién, P., & Velasco, I. (2013) · ISRN Obstetrics and Gynecology · doi:10.1155/2013/242149 · Cited by 182 · 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

Guidelines for the design, analysis and interpretation of ‘omics’ data: focus on human endometrium

Altmäe, S., Esteban, F. J., Stavreus-Evers, A., Simón, C., Giudice, L., Lessey, B. A., Horcajadas, J. A., Macklon, N. S., D'Hooghe, T., Campoy, C., et al. (2014) · Human Reproduction Update · doi:10.1093/humupd/dmt048 · Cited by 151 · see citing works

Molecular aspects of development and regulation of endometriosis

Aznaurova, Y. B., M.B.Zhumataev, M. B. Z., Roberts, T. K., Aliper, A. M., & Zhavoronkov, A. A. (2014) · Reproductive Biology and Endocrinology · doi:10.1186/1477-7827-12-50 · Cited by 116 · see citing works

Endometriosis: Perspective, lights, and shadows of etiology

Asghari, S., Valizadeh, A., Maleki, L. A., Nouri, M., & Yousefi, M. (2018) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2018.06.109 · Cited by 110 · 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

Endometriosis in the era of precision medicine and impact on sexual and reproductive health across the lifespan and in diverse populations

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

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

Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (Review)

Kobayashi, H., Imanaka, S., Nakamura, H., & Tsuji, A. (2014) · Molecular Medicine Reports · doi:10.3892/mmr.2014.2057 · 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

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

Genetics of Endometriosis

Rahmioğlu, N., Montgomery, G. W., & Zondervan, K. T. (2015) · Women s Health · doi:10.2217/whe.15.41 · Cited by 73 · 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

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health

Ruth, K. S., Beaumont, R. N., Tyrrell, J., Jones, S. E., Tuke, M. A., Yaghootkar, H., Wood, A. R., Freathy, R. M., Weedon, M. N., Frayling, T. M., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dev318 · 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

A higher prevalence of endometriosis among Asian women does not contribute to poorer IVF outcomes

Yamamoto, A., Johnstone, E. B., Bloom, M. S., Huddleston, H. G., & Fujimoto, V. Y. (2017) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-017-0919-1 · Cited by 67 · see citing works

Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus

Jones, 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

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

Candidate genes for age at menarche are associated with endometriosis

Ponomarenko, I., Reshetnikov, E., Polonikov, A., Verzilina, I., Sorokina, I., Elgaeva, E. E., Tsepilov, Y. A., Yermachenko, A., Dvornyk, V., & Churnosov, M. (2020) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2020.04.016 · Cited by 49 · see citing works

Should genetics now be considered the pre-eminent etiologic factor in endometriosis?

Montgomery, G. W., Mortlock, S., & Giudice, L. C. (2020) · Journal of Minimally Invasive Gynecology · doi:10.1016/j.jmig.2019.10.020 · Cited by 49 · see citing works

Epigenetic aberration of gene expression in endometriosis

Izawa, M. (2013) · Frontiers in Bioscience · doi:10.2741/e669 · Cited by 49 · see citing works

The future for genetic studies in reproduction

Montgomery, G. W., Zondervan, K. T., & Nyholt, D. R. (2013) · Molecular Human Reproduction · doi:10.1093/molehr/gat058 · Cited by 47 · see citing works

Defining the genetic profile of endometriosis (Review)

Vassilopoulou, L., Matalliotakis, M., Zervou, M. I., Matalliotaki, C., Krithinakis, K., Matalliotakis, I., Spandidos, D. A., & Goulielmos, G. N. (2019) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2019.7346 · Cited by 49 · see citing works

Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus

Nakaoka, H., Gurumurthy, A., Hayano, T., Ahmadloo, S., Omer, W. H., Yoshihara, K., Yamamoto, A., Kurose, K., Enomoto, T., Akira, S., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1005893 · Cited by 46 · see citing works

Independent Replication and Meta-Analysis for Endometriosis Risk Loci

Sapkota, Y., Fassbender, A., Bowdler, L., Fung, J. N., Peterse, D., O, D., Montgomery, G. W., Nyholt, D. R., & D'Hooghe, T. M. (2015) · Twin Research and Human Genetics · doi:10.1017/thg.2015.61 · Cited by 43 · see citing works

Genetics of endometriosis: state of the art on genetic risk factors for endometriosis

Fung, J. N., & Montgomery, G. W. (2018) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2018.01.012 · Cited by 41 · see citing works

Genetic links between post-reproductive lifespan and family size in Framingham

Wang, X., Byars, S., & Stearns, S. C. (2013) · Evolution Medicine and Public Health · doi:10.1093/emph/eot013 · Cited by 42 · see citing works

Définition, description, formes anatomo-cliniques, pathogenèse et histoire naturelle de l’endométriose, RPC Endométriose CNGOF-HAS

Borghese, B., Santulli, P., Marcellin, L., & Chapron, C. (2018) · Gynécologie Obstétrique Fertilité & Sénologie · doi:10.1016/j.gofs.2018.02.017 · Cited by 42 · see citing works

Replication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population

Sundqvist, J., Xu, H., Vodolazkaia, A., Fassbender, A., Kyama, C. M., Bokor, A., Gemzell‐Danielsson, K., D’Hooghe, T. M., & Falconer, H. (2013) · Human Reproduction · doi:10.1093/humrep/des457 · Cited by 40 · see citing works

Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing

Lalami, I., Abo, C., Borghese, B., Chapron, C., & Vaiman, D. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147297 · Cited by 44 · see citing works

The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis

Bylińska, A., Wilczyńska, K., Malejczyk, J., Milewski, Ł., Wagner, M., Jasek, M., Niepiekło-Miniewska, W., Wiśniewski, A., Płoski, R., Barcz, E., et al. (2018) · Molecular Genetics and Genomics · doi:10.1007/s00438-017-1404-3 · Cited by 38 · see citing works

Replication and meta-analysis of previous genome-wide association studies confirm vezatin as the locus with the strongest evidence for association with endometriosis

Pagliardini, L., Gentilini, D., Sanchez, A. M., Candiani, M., Viganò, P., & Di Blasio, A. M. (2015) · Human Reproduction · doi:10.1093/humrep/dev022 · Cited by 37 · see citing works

Germline copy number variations in BRCA1‐associated ovarian cancer patients

Yoshihara, K., Tajima, A., Adachi, S., Quan, J., Sekine, M., Kase, H., Yahata, T., Inoue, I., & Tanaka, K. (2010) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20841 · Cited by 38 · see citing works

Activated glucocorticoid and eicosanoid pathways in endometriosis

Monsivais, D., Bray, J. D., Su, E. J., Pavone, M. E., Dyson, M. T., Navarro, A., Kakinuma, T., & Bulun, S. E. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.03.030 · Cited by 37 · see citing works

Systematic review of genome-wide association studies on susceptibility to endometriosis

Cardoso, J. V., Perini, J. A., Machado, D. E., Pinto, R., & Medeiros, R. (2020) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2020.10.017 · Cited by 36 · see citing works

Genetic association studies in female reproduction: from candidate-gene approaches to genome-wide mapping

Zhao, H., & Chen, Z. (2013) · Molecular Human Reproduction · doi:10.1093/molehr/gat040 · Cited by 33 · see citing works

A genome-wide CNV association study on panic disorder in a Japanese population

Kawamura, Y., Otowa, T., Koike, A., Sugaya, N., Yoshida, E., Yasuda, S., Inoue, K., Takei, K., Konishi, Y., Tanii, H., et al. (2011) · Journal of Human Genetics · doi:10.1038/jhg.2011.117 · Cited by 32 · see citing works

Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family

Gajbhiye, R., McKinnon, B. D., Mortlock, S., Mueller, M. D., & Montgomery, G. W. (2018) · Reproductive Sciences · doi:10.1177/1933719118768688 · Cited by 31 · see citing works

New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study

Sobalska-Kwapis, M., Smolarz, B., Słomka, M., Szaflik, T., Kępka, E., Kulig, B., Siewierska-Górska, A., Polak, G., Romanowicz, H., Strapagiel, D., et al. (2017) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2017.08.037 · Cited by 29 · see citing works

Placenta Previa Complicated with Endometriosis: Contemporary Clinical Management, Molecular Mechanisms, and Future Research Opportunities

Matsuzaki, S., Nagase, Y., Ueda, Y., Kakuda, M., Maeda, M., Matsuzaki, S., & Kamiura, S. (2021) · Biomedicines · doi:10.3390/biomedicines9111536 · Cited by 31 · see citing works

A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population

Hata, Y., Nakaoka, H., Yoshihara, K., Adachi, S., Haino, K., Yamaguchi, M., Nishikawa, N., Kashima, K., Yahata, T., Tajima, A., et al. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.32 · Cited by 28 · see citing works

Association between oestrogen receptor alpha (ESR1) gene polymorphisms and endometriosis: a meta-analysis of 24 case-control studies

Zhao, L., Gu, C., Huang, K., Fan, W., Li, J., Ye, M., Han, W., & Meng, Y. (2016) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2016.06.003 · Cited by 24 · see citing works

Interferon Signaling in the Endometrium and in Endometriosis

Park, Y., & Han, S. J. (2022) · Biomolecules · doi:10.3390/biom12111554 · Cited by 24 · see citing works

Familial risk for endometriosis and its interaction with smoking, age at menarche and body mass index: a population‐based cohort study among siblings

Kim, H., Lee, H., Kazmi, S. Z., Hann, H. J., Kang, T., Cha, J., Choi, S.-B., Swan, H., Kim, H. J., Lee, Y.-S., et al. (2021) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.16769 · Cited by 23 · see citing works

Evaluation of polygenic risks for narcolepsy and essential hypersomnia

Yamasaki, M., Miyagawa, T., Toyoda, H., Khor, S., Liu, X., Kuwabara, H., Kano, Y., Shimada, T., Sugiyama, T., Nishida, H., et al. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2016.65 · Cited by 23 · see citing works

The Genetic Background of Endometriosis: Can ESR2 and CYP19A1 Genes Be a Potential Risk Factor for Its Development?

Smolarz, B., Szyłło, K., & Romanowicz, H. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21218235 · Cited by 23 · see citing works

Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis

Painter, J. N., Nyholt, D. R., Krause, L., Zhao, Z., Chapman, B. M., Zhang, C., Medland, S. E., Martin, N. G., Kennedy, S. M., Treloar, S. A., et al. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2014.04.015 · Cited by 20 · see citing works

The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis

Osiński, M., Mostowska, A., Wirstlein, P., Wender-Ożegowska, E., Jagodziński, P. P., & Szczepańska, M. (2018) · Ginekologia Polska · doi:10.5603/gp.a2018.0052 · Cited by 19 · see citing works

Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis

Yoshida, K., Yoshihara, K., Adachi, S., Haino, K., Nishino, K., Yamaguchi, M., Nishikawa, N., Kashima, K., Yahata, T., Masuzaki, H., et al. (2012) · Human Reproduction · doi:10.1093/humrep/des080 · Cited by 20 · see citing works

Association of Endometriosis-Associated Genetic Polymorphisms From Genome-Wide Association Studies With Ovarian Endometriosis in a Chinese Population

Li, Y., Hao, N., Wang, Y., & Kang, S. (2016) · Reproductive Sciences · doi:10.1177/1933719116650753 · Cited by 20 · see citing works

Genetic impacts on thermostability of onco-lncRNA HOTAIR during the development and progression of endometriosis

Chang, C. Y.-Y., Tseng, C.-C., Lai, M.-T., Chiang, A.-J., Lo, L.-C., Chen, C.-M., Yen, M.-J., Sun, L., Yang, L., Hwang, T., et al. (2021) · PLOS ONE · doi:10.1371/journal.pone.0248168 · Cited by 20 · see citing works

Tumor Necrosis Factor and Interleukin‐6 Gene Polymorphisms and Endometriosis Risk in Asians: A Systematic Review and Meta‐Analysis

Li, J., Chen, Y., Wei, S., Wu, H., Liu, C., Huang, Q., Li, L., & Hu, Y. (2013) · Annals of Human Genetics · doi:10.1111/ahg.12048 · Cited by 18 · see citing works

Pooling-Based Genome-Wide Association Study Identifies Risk Loci in the Pathogenesis of Ovarian Endometrioma in Chinese Han Women

Wang, W., Li, Y., Li, S., Wu, Z., Yuan, M., Wang, T., & Wang, S. (2016) · Reproductive Sciences · doi:10.1177/1933719116657191 · Cited by 16 · see citing works

Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs

Hirata, T., Koga, K., Johnson, T. A., Morino, R., Nakazono, K., Kamitsuji, S., Akita, M., Kawajiri, M., Kami, A., Hoshi, Y., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-25065-9 · Cited by 18 · see citing works

Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes

Chou, Y., Chen, M.-J., Chen, P.-H., Chang, C., Yu, M., Chen, Y., Tsai, E., Tsai, S., Kuo, W.-S., & Tzeng, C. (2021) · Scientific Reports · doi:10.1038/s41598-020-79515-4 · Cited by 14 · see citing works

Interleukin 1 alpha ( IL1A ) polymorphisms and risk of endometriosis in Iranian population: a case-control study

Badie, A., Saliminejad, K., Salahshourifar, I., & Khorshid, H. R. K. (2019) · Gynecological Endocrinology · doi:10.1080/09513590.2019.1631790 · Cited by 12 · see citing works

Molecular-genetic determinants of the development of endometriosis

Ponomarenko, I., Polonikov, A., Николаевна, В. И., & Churnosov, M. I. (2019) · Voprosy ginekologii akušerstva i perinatologii · doi:10.20953/1726-1678-2019-1-82-86 · Cited by 12 · see citing works

GENOME-WIDE MAPPING

Kang, S. W. (2013) · Apple Academic Press eBooks · doi:10.1201/b14910-12 · Cited by 23 · see citing works

M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits

Ochoa, S., Rasquel-Oliveira, F. S., McKinnon, B. D., Haro, M., Subramaniam, S., Yu, P. H., Coetzee, S. G., Anglesio, M. S., Wright, K. N., Meyer, R., et al. (2025) · Advanced Science · doi:10.1002/advs.202415285 · Cited by 10 · see citing works

Familial deep endometriosis: A rare monogenic disease?

Isidor, B., Latypova, X., & Ploteau, S. (2017) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2017.11.025 · Cited by 8 · see citing works

APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis

Revathidevi, S., Nakaoka, H., Suda, K., Fujito, N. T., Munirajan, A. K., Yoshihara, K., Enomoto, T., & Inoue, I. (2022) · Journal of Human Genetics · doi:10.1038/s10038-021-01003-y · Cited by 9 · see citing works

OMICs Studies and Endometriosis Biomarker Identification

Saare, M., Peters, M., Aints, A., Laisk, T., Salumets, A., & Altmäe, S. (2017) · Springer eBooks · doi:10.1007/978-3-319-59856-7_12 · Cited by 8 · see citing works

The role of genetic factors in developing endometrioid lesions

Ponomareva, T. A., Altukhova, O. B., Ponomarenko, I., & Churnosov, M. I. (2023) · Obstetrics Gynecology and Reproduction · doi:10.17749/2313-7347/ob.gyn.rep.2023.434 · Cited by 7 · see citing works

Comorbidity and syntropy of benign proliferative diseases of the female reproductive system: non-genetic, genetic, and epigenetic factors (review)

Ponomarenko, M. S., Александрович, Р. Е., Churnosova, M., Reshetnikova, Y., Churnosov, V., & Ponomarenko, I. (2023) · RESEARCH RESULTS IN BIOMEDICINE · doi:10.18413/2658-6533-2023-9-4-0-9 · Cited by 7 · see citing works

Are matrix metalloproteinases and their inhibitors reliable diagnosis biomarkers and attractive therapeutic targets in endometriosis?

Henriet, P., Mon, K. S., & Marbaix, É. (2016) · Metalloproteinases In Medicine · doi:10.2147/mnm.s102209 · Cited by 7 · see citing works

Gene Polymorphisms in FAS (Rs3740286 and Rs4064) Are Involved in Endometriosis Development in Brazilian Women, but not those in CASP8 (rs13416436 and rs2037815)

Pissetti, C. W., Tanaka, S. C. S. V., Hortolani, A. C. C., & de Marqui, A. B. T. (2018) · Revista Brasileira Ginecologia e Obstetrícia · doi:10.1055/s-0038-1667183 · Cited by 7 · see citing works

Functional polymorphism within NUP210 encoding for nucleoporin GP210 is associated with the risk of endometriosis

Cipollini, M., Luisi, S. V., Piomboni, P., Luddi, A., Landi, D., Melaiu, O., Figlioli, G., Garritano, S., Cappelli, V., Viganò, P., et al. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2019.04.011 · Cited by 7 · see citing works

Ovarian cancer-associated polymorphisms in the BNC2 gene among women with endometriosis

Sundqvist, J., Falconer, H., Seddighzadeh, M., Vodolazkaia, A., Fassbender, A., Kyama, C. M., Bokor, A., Stephansson, O., Gemzell‐Danielsson, K., & D’Hooghe, T. (2011) · Human Reproduction · doi:10.1093/humrep/der169 · Cited by 7 · see citing works

Genetic Biomarkers for Endometriosis

Lee, S., Sapkota, Y., Fung, J. N., & Montgomery, G. W. (2017) · Springer eBooks · doi:10.1007/978-3-319-59856-7_5 · Cited by 5 · see citing works

Genetic Risk Factors for Endometriosis

Fung, J. N., Sapkota, Y., Nyholt, D. R., & Montgomery, G. W. (2017) · Journal of Endometriosis and Pelvic Pain Disorders · doi:10.5301/je.5000273 · Cited by 5 · see citing works

Genetics and Genomics of Endometriosis

Giudice, L. C., Burney, R. O., Becker, C. M., Missmer, S. A., Montgomery, G. W., Rahmioğlu, N., Rogers, P. A. W., & Zondervan, K. T. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-813570-9.00018-8 · Cited by 5 · see citing works

Genome-wide association studies on endometriosis and endometriosis-related infertilityPreprint

Galarneau, G., Fontanillas, P., Clementi, C., Hu-Seliger, T. T., Parfitt, D.-E., Tung, J. Y., & Beim, P. Y. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/401448 · Cited by 7 · see citing works

Epigenetics in Endometriosis

Izawa, M., Taniguchi, F., & Harada, T. (2014) · Springer eBooks · doi:10.1007/978-4-431-54421-0_8 · Cited by 4 · see citing works

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Viana, P. C. S., Mendes, A. C. D. M., Delgado, L. F., Lucas, G. T., Gonçalves, L., Gonçalves, H., Raposo, N. R. B., Vitral, R. W. F., & Gerheim, P. S. A. S. (2020) · Revista Brasileira Ginecologia e Obstetrícia · doi:10.1055/s-0040-1708460 · Cited by 6 · see citing works

Understanding the Pathogenesis of Endometriosis: Gene Mapping Studies

Painter, J. N., Zondervan, K. T., & Montgomery, G. W. (2011) · Wiley eBooks · doi:10.1002/9781444398519.ch6 · Cited by 3 · see citing works

Genetic factors of endometriosis development. (Data from full genome studies)

Олегович, Г. И., Ponomarenko, I., & Churnosov, M. I. (2022) · Russian Bulletin of Obstetrician-Gynecologist · doi:10.17116/rosakush20222203130 · Cited by 2 · see citing works

Role of genetics and lifestyle in dysmenorrhea

Durán, A. A. A., Arias, N. M., de la Serna, C. D. D. L. R., & Dominguez–Valentin, M. (2023) · Magna Scientia UCEVA · doi:10.54502/msuceva.v3n1a3 · Cited by 2 · see citing works

Genetics and genomics of endometriosis☆

Giudice, L. C., Burney, R. O., Becker, C. M., Missmer, S. A., Montgomery, G. W., Rahmioğlu, N., Rogers, P. A. W., & Zondervan, K. T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91380-5.00018-6 · Cited by 2 · see citing works

Molecular Genetics of Endometriosis

Painter, J. N., Zondervan, K. T., Missmer, S. A., & Montgomery, G. W. (2011) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0021473 · Cited by 2 · see citing works

Feasibility of SNP Genotyping Using Dried Blood Spot Samples Collected in an Epidemiological Study and Its Integration With Genetic Risk Analysis for Endometriosis

Kitahara, Y., Ideno, Y., Tomiyoshi, K., Onizuka, Y., Nagai, K., Iwase, A., Shimada, J., Ohnishi, H., & Hayashi, K. (2025) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12675 · Cited by 1 · see citing works

Endometriosis-derived iPSCs reveal conserved stromal maturation and endocrine responsiveness

McDowell, H. B., Sun, S., McNally, R. P., Huerta, C. B., Asif, H., Yoon, J., Alvarez, A. A., Yıldız, Ş., Foley, K. G., Boots, C. E., et al. (2026) · Science Advances · doi:10.1126/sciadv.aeg2362 · Cited by 1 · see citing works

A Primer on Clinical Classification and Pathophysiology of Endometriosis

Mishra, A., & Modi, D. (2024) · Fertility Science and Research · doi:10.25259/fsr_7_2024 · Cited by 1 · see citing works

Pathogenesis of Endometriosis: Genetics

Rahmioğlu, N., & Zondervan, K. T. (2022) · Springer eBooks · doi:10.1007/978-3-030-97236-3_6 · Cited by 1 · see citing works

Pathophysiological factors and genetic association in endometriosis

Sundqvist, J. (2011) · Figshare · Cited by 1 · see citing works

Faculty Opinions recommendation of Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

Rolla, E. D. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.727650537.793557762 · Cited by 1 · see citing works

at menopause, and impact reproductive health: a UK Biobank study

Ruth, K. S., Beaumont, R. N., Tyrrell, J., Jones, S. E., Tuke, M. A., Wood, A. R., Freathy, R. M., Weedon, M. N., Frayling, T. M., & Murray, A. (2015)

Translational Aspects of the Endometriosis Epigenome

Colón-Caraballo, M., & Flores, I. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-812215-0.00023-6

Expression Profiling of TGF-β Receptor and its Relation with Endometriosis

Ghoshal, S., Agrawal, N., & Singh, K. (2015) · International Journal of Infertility & Fetal Medicine · doi:10.5005/jp-journals-10016-1112

Using Hierarchical Similarity To Examine The Genetics of Behçet’s DiseasePreprint

Shenoi, S. J., & Baker, E. J. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.06.438717

Common comorbid disorders in endometriosis patients

Adewuyi, E. O. (2021) · Queensland University of Technology · doi:10.5204/thesis.eprints.212039

Using hierarchical similarity to examine the genetics of Behçet’s disease

Shenoi, S. J., & Baker, E. J. (2021) · BMC Research Notes · doi:10.1186/s13104-021-05767-6

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

Systematic review of genome-wide association studies on susceptibility to endometriosis

Cardoso, J. V., Perini, J. A., Machado, D. E., Pinto, R., & Medeiros, R. (2020) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2020.10.017 · Cited by 36 · 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

An Italian association study and meta-analysis with previous GWAS confirm <i>WNT4</i> , <i>CDKN2BAS</i> and <i>FN1</i> as the first identified susceptibility loci for endometriosis

Pagliardini, L., Gentilini, D., Vigano’, P., Panina-Bordignon, P., Busacca, M., Candiani, M., & Di Blasio, A. M. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101257 · Cited by 83 · see citing works

ORIGINAL ARTICLE Reproductive genetics Association between endometriosis and the interleukin 1A (IL1A) locus

Sapkota, Y., Low, S.-K., Attia, J., Gordon, S. D., Henders, A. K., Martin, N. G., Mcevoy, M., Morris, A. P., Takahashi, A., Scott, R. J., et al. (2015)