Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis
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We conducted a genome-wide association scan (GWAS) of endometriosis using 25.5 million sequence variants detected through whole-genome sequencing (WGS) of 8,453 Icelanders and imputed into 1,840 cases and 129,016 control women, followed by testing of associated variants in Danish samples. Here we report the discovery of a new endometriosis susceptibility locus on 4q12 (rs17773813[G], OR=1.28; P=3.8 × 10−11), upstream of KDR encoding vascular endothelial growth factor receptor 2 (VEGFR2). The variant correlates with disease severity (P=0.0046) when moderate/severe endometriosis cases are tested against minimal/mild cases. We further report association of rs519664[T] in TTC39B on 9p22 with endometriosis (P=4.8 × 10−10; OR=1.29). The involvement of KDR in endometriosis risk highlights the importance of the VEGF pathway in the pathogenesis of the disease.
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The study confirms association near the KDR gene that was recently reported by the Icelandic GWA study.
“We confirm association near the kinase insert domain receptor (KDR) gene that was recently reported by the Icelandic GWA study9.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [9]
Association analysis of deCODE data was performed using logistic regression and included adjustment for age and population substructures.
“Association analysis of deCODE data was performed using logistic regression9, and included adjustment for age and population substructures.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [9]
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · 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
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062 · see citing works
Vascular Endothelial Growth Factor Is a Secreted Angiogenic Mitogen
Leung, D. W., Cachianes, G., Kuang, W.-J., Goeddel, D. V., & Ferrara, N. (1989) · Science · doi:10.1126/science.2479986 · Cited by 4,988 · see citing works
The Danish National Patient Register
Lynge, E., Sandegaard, J. L., & Rebolj, M. (2011) · Scandinavian Journal of Public Health · doi:10.1177/1403494811401482 · Cited by 3,968 · see citing works
Failure of blood-island formation and vasculogenesis in Flk-1-deficient mice
Shalaby, F., Rossant, J., Yamaguchi, T. P., Gertsenstein, M., Wu, X.-F., Breitman, M. L., & Schuh, A. C. (1995) · Nature · doi:10.1038/376062a0 · Cited by 3,931 · see citing works
Vascular Endothelial Growth Factor: Basic Science and Clinical Progress
Ferrara, N. (2004) · Endocrine Reviews · doi:10.1210/er.2003-0027 · Cited by 3,707 · 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
Willer (2013) · doi:10.1038/ng.2797 · Cited by 2,983 · see citing works
Ward, L. D., & Kellis, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr917 · Cited by 2,229 · see citing works
A Genome-Wide Association Search for Type 2 Diabetes Genes in African Americans
Palmer, N. D., McDonough, C. W., Hicks, P. J., Roh, B. H., Wing, M. R., An, S. S., Hester, J. M., Bailey, J. N. C., Bostrom, M. A., Rudock, M. E., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0029202 · Cited by 1,805 · see citing works
The Danish Civil Registration System. A cohort of eight million persons.
Pedersen, C. B., Gøtzsche, H., Møller, J. O., & Mortensen, P. B. (2006) · PubMed · Cited by 1,617 · see citing works
The Danish National Birth Cohort - its background, structure and aim
Olsen, J., Melbye, M., Olsen, S. F., Sørensen, T. I. A., Aaby, P., Andersen, A. N., Taxbøl, D., Hansen, K. D., Juhl, M., Schow, T. B., et al. (2001) · Scandinavian Journal of Public Health · doi:10.1177/14034948010290040201 · Cited by 1,071 · see citing works
Self-citation(1984) · PubMed · Cited by 997 · see citing works
Large-scale whole-genome sequencing of the Icelandic population
Gudbjartsson, D. F., Helgason, H., Gudjonsson, S. A., Zink, F., Oddson, A., Gylfason, A., Besenbacher, S., Magnusson, G., Halldorsson, B. V., Hjartarson, E., et al. (2015) · Nature Genetics · doi:10.1038/ng.3247 · Cited by 791 · see citing works
Self-citationEndometriosis: epidemiology and aetiological factors
Viganò, P., Parazzini, F., Somigliana, E., & Vercellini, P. (2004) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2004.01.007 · Cited by 718 · see citing works
The gene encoding phosphodiesterase 4D confers risk of ischemic stroke
Grétarsdóttir, S., Þorleifsson, G., Reynisdottir, S. T., Manolescu, A. R., Jonsdottir, S., Jónsdóttir, Þ., Gudmundsdottir, T., Bjarnadottir, S. M., Einarsson, O. B., Gudjonsdottir, H. M., et al. (2003) · Nature Genetics · doi:10.1038/ng1245 · Cited by 563 · see citing works
Self-citationParental origin of sequence variants associated with complex diseases
DIAGRAM Consortium, Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K. T., et al. (2009) · Nature · doi:10.1038/nature08625 · Cited by 553 · see citing works
Self-citationThe Epidemiology of Endometriosis
CRAMER, D. W., & MISSMER, S. A. (2002) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2002.tb02761.x · Cited by 539 · see citing works
NgR1 and NgR3 are receptors for chondroitin sulfate proteoglycans
Dickendesher, T. L., Baldwin, K. T., Mironova, Y. A., Koriyama, Y., Raiker, S. J., Askew, K. L., Wood, A., Geoffroy, C. G., Zheng, B., Liepmann, C. D., et al. (2012) · Nature Neuroscience · doi:10.1038/nn.3070 · Cited by 449 · see citing works
Detection of sharing by descent, long-range phasing and haplotype imputation
Kong, A., Masson, G., Frigge, M. L., Gylfason, A., Zusmanovich, P., Thorleifsson, G., Olason, P. I., Ingason, A., Steinberg, S., Rafnar, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.216 · Cited by 447 · see citing works
Self-citationAlbuquerque, R., Hayashi, T., Cho, W. G., Kleinman, M. E., Dridi, S., Takeda, A., Baffi, J., Yamada, K., Kaneko, H., Green, M. G., et al. (2009) · Nature Medicine · doi:10.1038/nm.2018 · Cited by 356 · 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
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
Genome-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
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
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
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
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
Self-citationEbos, J. M. L., Bocci, G., Man, S., Thorpe, P. E., Hicklin, D. J., Zhou, D., Jia, X., & Kerbel, R. S. (2004) · Molecular Cancer Research · doi:10.1158/1541-7786.315.2.6 · Cited by 210 · see citing works
Бурлев, В. А., Volkov, N. I., Pavlovitch, S. V., Lets, N., Larsson, A. O., & Olovsson, M. (2006) · Reproduction · doi:10.1530/rep.1.01110 · Cited by 192 · 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
Current Concepts in the Pathogenesis of Endometriosis
Witz, C. A. (1999) · Clinical Obstetrics & Gynecology · doi:10.1097/00003081-199909000-00013 · Cited by 151 · see citing works
Current concepts of the pathogenesis of endometriosis
Osuga, Y. (2009) · Reproductive Medicine and Biology · doi:10.1007/s12522-009-0031-z · Cited by 147 · see citing works
Pelvic Endometriosis Diagnosed in an Entire Nation Over 20 Years
Gylfason, J. T., Kristjansson, K. A., Sverrisdottir, G., Jónsdóttir, K., Rafnsson, V., & Geirsson, R. T. (2010) · American Journal of Epidemiology · doi:10.1093/aje/kwq143 · Cited by 144 · see citing works
Self-citationMachado, D. E., Abrão, M. S., Berardo, P. T., Takiya, C. M., & Nasciutti, L. E. (2007) · Fertility and Sterility · doi:10.1016/j.fertnstert.2007.05.076 · Cited by 112 · see citing works
A novel endonuclease IV post-PCR genotyping system
Kutyavin, I. V., Milesi, D., Belousov, Y. S., Podyminogin, M. A., Vorobiev, A. A., Gorn, V. V., Lukhtanov, E. A., Vermeulen, N. M. J., & Mahoney, W. C. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl679 · Cited by 85 · see citing works
Rare mutations associating with serum creatinine and chronic kidney disease
Sveinbjörnsson, G., Mikaelsdottir, E., Pálsson, R., Indridason, Ó. S., Hólm, H., Jónasdóttir, Á., Helgason, A., Sigurðsson, S., Jónasdóttir, A., Sigurðsson, Á., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu399 · Cited by 61 · see citing works
Self-citationGenetic burden associated with varying degrees of disease severity in endometriosis
Sapkota, Y., Attia, J., Gordon, S. D., Henders, A. K., Holliday, E. G., Rahmioglu, N., MacGregor, S., Martin, N. G., McEvoy, M., Morris, A. P., et al. (2015) · Molecular Human Reproduction · doi:10.1093/molehr/gav021 · Cited by 43 · see citing works
French, J. D., Australian Ovarian Cancer Study Group, Study, A. C., Johnatty, S. E., Lu, Y., Beesley, J., Gao, B., Kalimutho, M., Henderson, M. J., Russell, A. J., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.7047 · Cited by 31 · see citing works
Small leucine rich proteoglycans are differently distributed in normal and pathological endometrium.
Lucariello, A., Trabucco, E., Boccia, O., Perna, A., Sellitto, C., Castaldi, M. A., Falco, M. D., Luca, A. D., & Cobellis, L. (2015) · PubMed · Cited by 23 · see citing works
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Sorted by citations
Zondervan, K. T., Becker, C. M., Koga, K., Missmer, S. A., Taylor, R. N., & Viganò, P. (2018) · Nature Reviews Disease Primers · doi:10.1038/s41572-018-0008-5 · Cited by 1,257 · 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-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
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
Villainous role of estrogen in macrophage-nerve interaction in endometriosis
Liang, Y., Xie, H., Wu, J., Liu, D., & Yao, S. (2018) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-018-0441-z · Cited by 87 · see citing works
Park, Y., Demessie, A. A., Luo, A., Taratula, O. R., Moses, A. S., Do, P., Campos, L., Jahangiri, Y., Wyatt, C. R., Albarqi, H. A., et al. (2022) · Small · doi:10.1002/smll.202107808 · Cited by 51 · 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
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
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
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
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
Sapkota, Y., Vivo, I. D., Steinthórsdóttir, V., Fassbender, A., Bowdler, L. M., Buring, J. E., Edwards, T. L., Jones, S. F., Dorien, O., Peterse, D., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-10440-9 · Cited by 30 · see citing works
Cardoso, J. V., Abrão, M. S., Vianna‐Jorge, R., Ferrari, R., Berardo, P. T., Machado, D. E., & Perini, J. A. (2016) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2016.10.046 · Cited by 28 · see citing works
Targeted nanoparticles for imaging and therapy of endometriosis
Slayden, O. D., Luo, F., Park, Y., Moses, A. S., Demessie, A. A., Singh, P., Korzun, T., Taratula, O. R., & Taratula, O. (2024) · Biology of Reproduction · doi:10.1093/biolre/ioae073 · Cited by 18 · see citing works
Endometriosis: Challenges in Clinical Molecular Diagnostics and Treatment
Chalma, P. R., Díaz-Landy, E. N., Antonio-Véjar, V., Tejedor, J. G. O., Reytor-González, C., Simancas‐Racines, D., & Ordóñez, G. D. B. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26093979 · Cited by 20 · see citing works
Dissecting the shared genetic architecture between endometriosis and polycystic ovary syndrome
Tan, H.-J., Long, P., & Xiao, H. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1359236 · Cited by 15 · see citing works
TTC39B destabilizes retinoblastoma protein promoting hepatic lipogenesis in a sex-specific fashion
Hsieh, J., Molusky, M. M., McCabe, K. M., Fotakis, P., Xiao, T., Tascau, L., Zeana-Schliep, L., DaSilva-Jardine, P. A., & Tall, A. R. (2021) · Journal of Hepatology · doi:10.1016/j.jhep.2021.09.021 · Cited by 12 · see citing works
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
Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis
Nousiainen, S., Kuismin, O., Reinikka, S., Manninen, R., Khamaiseh, S., Kuivalainen, M., Terho, A., Koivurova, S., Niinimäki, M. J., Salokas, K., et al. (2023) · Human Genomics · doi:10.1186/s40246-023-00538-9 · Cited by 9 · 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
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
Genetics-driven discovery of novel regulators of lipid metabolism
Ha, E. E., Camp, A. G. V., & Bauer, R. C. (2019) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000605 · Cited by 7 · 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
Microbial dysbiosis and disease pathogenesis of endometriosis, could there be a link?
Puca, J., & Hoyne, G. F. (2017) · doi:10.35841/medical-research.1.1.1-9 · Cited by 5 · see citing works
Liu, F., Zhou, J., Zhang, X., Fang, S.-F., Liu, R., Chen, G., Luo, Y., Zhang, Z., Cheng, Y., Wang, L., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac062 · 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
Novel missense variant of CIITA contributing to endometriosis
Zhu, Y., Pan, H., Han, Y., Li, T., Liu, K., & Wang, B. (2022) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2022.05.011 · Cited by 4 · see citing works
FZD7: A potential biomarker for endometriosis
Lan, S., Zhang, Z., & Li, Q. (2023) · Medicine · doi:10.1097/md.0000000000035406 · Cited by 4 · see citing works
Pergialiotis, V., Fanaki, M., Bellos, I., Stefanidis, K., Loutradis, D., & Daskalakis, G. (2020) · Journal of Gynecology Obstetrics and Human Reproduction · doi:10.1016/j.jogoh.2020.101732 · Cited by 4 · see citing works
Invasion and nerve fibers damage in endometriosis
Бурлев, В. А. (2020) · Russian Journal of Human Reproduction · doi:10.17116/repro20202603153 · Cited by 4 · see citing works
Aberrant invasion of nervous fibers in endometriosis: the role of estrogens
Бурлев, В. А. (2020) · Russian Journal of Human Reproduction · doi:10.17116/repro202026021104 · Cited by 6 · see citing works
Xu, B., Li, M., Zhao, X., Yu, Q., & Zhao, Y. (2025) · BMC Pharmacology and Toxicology · doi:10.1186/s40360-025-01030-x · Cited by 2 · see citing works
A heterogeneous graph neural network for candidate gene prediction in endometriosis
Soo, Z., Lin, H., Wu, M., Guo, K., Grosser, M., Zhang, Y., & Jie Lu, B. (2026) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2026.105028 · Cited by 2 · see citing works
A rare variant in the MARVELD2 gene is associated with Chinesen samples with ovarian endometriosis
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TTC39B rs1407977 SNP is associated with the risk of coronary heart disease and ischemic stroke.
Li, H., Yin, R., Huang, J., Huang, F., Chen, W., & Cao, X. (2018) · Europe PMC (PubMed Central) · 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
Chernetsova, A. S., Adamyan, L. V., Murvatov, K. D., & Stepanyan, A. A. (2024) · Russian Journal of Human Reproduction · doi:10.17116/repro202430041112 · Cited by 1 · see citing works
Zhao, W., Li, Z., & Ou, J. (2025) · International Journal of Women s Health · doi:10.2147/ijwh.s540774 · Cited by 1 · see citing works
The Role of the Microenvironment in Endometriosis: Parallels and Distinctions to Cancer
Rogers, M. S. (2022) · Springer eBooks · doi:10.1007/978-3-030-98950-7_28 · 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
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
Chen, Y., Xing, F., Li, Y., Cui, J., & Chen, Y. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e38889
RetractedMahmoudi, H., Pam, P., Javidmehr, K., Moini, A., & Noormohammadi, Z. (2025) · Middle East Fertility Society Journal · doi:10.1186/s43043-025-00256-3
Bonab, L. N. H., Motafeghi, F., Naz, M. S. G., Chegeni, S., Azizi, F., Daneshpour, M. S., & Tehrani, F. R. (2026) · Middle East Fertility Society Journal · doi:10.1186/s43043-026-00324-2
Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications
Montgomery, G. W., McGrath, I. M., Overgaard, M. T., Nyegaard, M., & Mortlock, S. (2026) · Human Reproduction Update · doi:10.1093/humupd/dmag023
Phytochemicals Modulating Receptor Tyrosine Kinase Signaling Networks in Endometriosis
Hsu, C., & Weng, C. (2026) · Pharmaceuticals · doi:10.3390/ph19091413
- Authors
- Steinthorsdottir, V., Thorleifsson, G., Aradottir, K., Feenstra, B., Sigurdsson, A., Stefansdottir, L., Kristinsdottir, A. M., Zink, F., Halldorsson, G. H., Munk Nielsen, N., Geller, F., Melbye, M., Gudbjartsson, D. F., Geirsson, R. T., Thorsteinsdottir, U., & Stefansson, K.
- Affiliations
- National University Hospital of Iceland (IS)
- Statens Serum Institut (DK)
- deCODE Genetics (Iceland) (IS)
- ORCID
- Venue
- Nature Communications
- Published
- 2016-07-25
- Volume
- 7
- Issue
- 1
- Pages
- 12350-12350
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC4962463
- OpenAlex
- W2489788488
- Cited by
- 48
- References
- 42
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 5 · 2023: 3 · 2022: 6 · 2021: 2 · 2020: 5 · 2019: 5 · 2018: 6 · 2017: 6 · 2016: 1
- FWCI
- 7.97
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- March of Dimes Foundation
- Oak Foundation
- National Research Foundation
- Danmarks Grundforskningsfond
- Augustinus Fonden
- Egmont Fonden
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Keywords
- endometriosis, genetic susceptibility, KDR, VEGFR2, VEGF pathway, disease severity, genome-wide association study, Icelandic population
- MeSH terms
- Chromosomes, Human, Pair 17, Endometriosis, Female, Humans, Lipoproteins, HDL, Neoplasm Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Vascular Endothelial Growth Factor Receptor-2, Genome-Wide Association Study, Genetic Loci
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