Relationship between the methylation levels of Twist gene and pathogenesis of endometriosis

Juanqing L, Juanqing Li, Li Juanqing, Hailan Yu, Hailan Y, Yu Hailan, Xiangwei F, Xiangwei Fei, Fei Xiangwei, Tao Zhang, Tao Z, Zhang Tao, Junyan Ma, Junyan M, Ma Junyan, Zhou Jianhong, Jianhong Z, Jianhong Zhou, Lin Jun, Jun Lin, Jun L, Yang Jianhua, Jianhua Y, Jianhua Yang
Cellular and molecular biology (Noisy-le-Grand, France) · 2019 · vol. 65(3) , pp. 94–100 · doi:10.14715/cmb/2019.65.3.14 · PMID:30942161 · W2930496834
article OA: hybrid CC0 ⤵ 13 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study found regional hypomethylation of the Twist gene promoter in ectopic and eutopic endometrium from endometriosis patients, suggesting a role in the disease's pathogenesis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-13 · read from full text ⓘ

This paper examines the relationship between DNA methylation levels of the Twist gene (Twist1/TWIST) and mechanisms proposed for the pathogenesis of endometriosis, using an epigenetics-focused framework rather than reporting original patient methylation data in the provided text. The key finding presented is that altered Twist gene methylation is linked to endometriosis-related disease development via epigenetic regulation, consistent with a broader model in which epigenetic changes contribute to abnormal cellular behavior. A major limitation explicitly apparent from the provided material is that it does not include detailed methods, sample characteristics, or effect sizes for a primary study. This paper is centrally about endometriosis — it specifically frames how Twist gene methylation may relate to endometriosis pathogenesis.

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Abstract

The purpose of this study was to investigate the difference of Twist gene promoter methylation among ovarian ectopic endometrium, eutopic endometrium and non-endometriosis (EMs) endometrium . 15 patients with reproductive age hospitalized at Department of obstetrics and gynecology affiliated to Medicine School of Zhejiang University from January 2013 to June 2016 were selected. Among them, 5 patients underwent laparoscopic surgery due to ovarian type EMs, and were selected after histologic confirmation. Ectopic endometrium and eutopic endometrium were obtained simultaneously. Normal endometrium was obtained from 5 cases of tubal infertility confirmed by hysteroscopy. Six pairs of primers for CpG island of Twist gene promoter were designed, and the difference of promoter methylation levels was detected by pyrosequencing method for methylation specific PCR (MSP) in three groups of endometrial tissues. The promoter of Twist gene is hypomethylated in some areas of ovarian ectopic endometrium and eutopic endometrium of ovarian endometriosis. It is speculated that the regional hypomethylation of Twist gene promoter in ovarian ectopic endometrium and eutopic endometrium may cause over-expression of Twist protein, which may directly lead to the pathogenesis of endometriosis.
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Abstract

Keywords Download Citation Endnote/Zotero/Mendeley (RIS)BibTeX - He JX, Chang WQ, Feng CY, Cui MH, Xu TM. Endometriosis Malignant Transformation: Epigenetics as a Probable Mechanism in Ovarian Tumorigenesis. Int J Genomics 2018; 2018: 1-13. - Vercellini P, Viganò P, Somigliana E, Fedele L. Endometriosis: pathogenesis and treatment. Nat Rev Endocrinol 2014; 10:261-275. - Borghese B, Zondervan KT, Abrao MS, Chapron C, Vaiman D. Recent insights on the genetics and epigenetics of endometriosis. Clin Genet 2016; 91: 254-264. - Calicchio R, Doridot L, Miralles F, Méhats C, Vaiman D. DNA methylation, an epigenetic mode of gene expression regulation in reproductive science. Curr Pharm Des 2014; 20: 1726-1750. - Oliveira AM. DNA methylation: a permissive mark in memory formation and maintenance. Learn Mem 2016; 23: 587-593. - Meier K, Recillastarga F. New insights on the role of DNA methylation from a global view. Front Biosci (Landmark Ed) 2017; 22: 644-668. - Wang J, Gong L, Tan Y, Hui R, Wang Y. Hypertensive epigenetics: from DNA methylation to microRNAs. J Hum Hypertens 2015; 29: 575-82. - Pouliot M C, Labrie Y, Diorio C, Durocher F. The Role of Methylation in Breast Cancer Susceptibility and Treatment. Anticancer Res 2015; 35: 4569-4574. - Celebiler CA, Sevinc AI, Saydam S, Canda T, Baskan Z. Promoter methylation and expression changes of CDH1 and P16 genes in invasive breast cancer and adjacent normal breast tissue. Neoplasma 2010; 57: 465. - De Leon MC, Cardenas H, Emerson R, Matei D. Transmembrane protein 88 (TMEM88) promoter hypomethylation is associated with cisplatin resistance in ovarian cancer. Gynecol Oncol 2015; 137: 173. - Schmid G, Notaro S, Reimer D, Abdel-Azim S, Duggan-Peer M, Holly J, et al. Expression and promotor hypermethylation of miR-34a in the various histological subtypes of ovarian cancer. BMC Cancer 2016; 16: 102. - Zidan HE, Rezk NA, Alnemr AAA, Abdel Ghany AM. COX-2 gene promoter DNA methylation status in eutopic and ectopic endometrium of Egyptian women with endometriosis. J Reprod Immunol 2015; 112: 63-67. - Andersson KL, Bussani C, Fambrini M, Polverino V, Taddei GL, Gemzell-Danielsson K, et al. DNA methylation of HOXA10 in eutopic and ectopic endometrium. Hum Reprod 2014; 29: 1906-1911. - Sung CO, Lee KW, Han S, Kim SH. Twist1 is up-regulated in gastric cancer-associated fibroblasts with poor clinical outcomes. Am J Pathol 2011; 179: 1827-1838. - Dirks RA, Stunnenberg HG, Marks H. Genome wide epigenomic profiling for biomarker discovery. Clin Epigenetics 2016; 8: 122. - Li X, Bao X, Wang R. Neurogenesis-based epigenetic therapeutics for Alzheimer's disease. Mol Med Rep 2016; 14: 1043-1054. - Stalberg P, Westin G, Thirlwell C. Genetics and epigenetics in small intestinal neuroendocrine tumours. J Intern Med 2016; 280: 584-594. - Goel A. DNA methylation-based fecal biomarkers for the noninvasive screening of GI cancers. Future Oncol 2010; 6: 333-336. - Guillamot M, Cimmino L, Aifantis I. The Impact of DNA Methylation in Hematopoietic Malignancies. Trends Cancer 2016; 2: 70-83. - Geens M, Seriola A, Barbe L, Santalo J, Veiga A, Dée K, et al. Female human pluripotent stem cells rapidly lose X chromosome inactivation marks and progress to a skewed methylation pattern during culture. Mol Hum Reprod 2016; 2: 285-298. - Hoeijmakers L, Kempe H, Verschure PJ. Epigenetic imprinting during assisted reproductive technologies: The effect of temporal and cumulative fluctuations in methionine cycling on the DNA methylation state. Mol Reprod Dev 2016; 83: 94-107 - Marks DL, Olson RL, Fernandez-Zapico ME. Epigenetic control of the tumor microenvironment. Epigenomics 2016; 8: 1671-1687. - Larrent L, Wong E, Li G, Huynh T, Tsirigos A, Ong CT, et al. Dynamic changes in the human methylome during differentiation. Genome Res 2010; 20: 320-331. - Grigorenko EL, Kornilov SA, Naumova OY. Epigenetic regulation of cognition: A circumscribed review of the field. Dev Psychopathol 2016; 28: 1285-1304. - Wu H, Zhao M, Tan L, Lu Q. The key culprit in the pathogenesis of systemic lupus erythematosus: Aberrant DNA methylation. Autoimmun Rev 2016; 15: 684-689. - Dowson C, O'Reilly S. DNA methylation in fibrosis. Eur J Cell Biol 2016; 95: 323-330. - Xu P, Hu G, Luo C, Liang Z. DNA methyltransferase inhibitors: an updated patent review (2012-2015). Expert Opin Ther Pat 2016; 26: 1017-1030. - Antelo M, Balaguer F, Shia J, Shen Y, Hur K, Moreira L, et al. A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer. PLos One 2012; 7: 45357. - Earp MA, Cunningham JM. DNA methylation changes in epithelial ovarian cancer histotypes. Genomics 2015; 106: 311-321. - Lee KW, Yeo SY, Sung CO, Kim SH. Twist1 is a key regulator of cancer-associated fibroblasts. Cancer Res 2015; 75: 73-85. - Fantony JJ, Abern MR, Gopalakrishna A, Owusu R, Jack TayK, Lance RS, et al. Multi-institutional external validation of urinary TWIST1 and NID2 methylation as a diagnostic test forbladder cancer. Urol Oncol 2015; 33: 387. - Satoh K, Hamada S, Kimura K, Kanno A, Hirota M, Umino J, et al. Up-regulation of MSX2 enhances the malignant phenotype and is associated with twist 1 expression in human pancreatic cancer cells. Am J Pathol 2008; 172: 926-939. - Zou H, Feng X, Cao JG. Twist in hepatocellular carcinoma: pathophysiology and therapeutics. Hepatol Int 2015; 9: 399-405. - Liu ZJ, Maekawa M. Polymerasechain reaction-based methods of DNA methylation analysis. Anal Biochem 2003; 317: 259-265.

References

He JX, Chang WQ, Feng CY, Cui MH, Xu TM. Endometriosis Malignant Transformation: Epigenetics as a Probable Mechanism in Ovarian Tumorigenesis. Int J Genomics 2018; 2018: 1-13. Vercellini P, Viganò P, Somigliana E, Fedele L. Endometriosis: pathogenesis and treatment. Nat Rev Endocrinol 2014; 10:261-275. Borghese B, Zondervan KT, Abrao MS, Chapron C, Vaiman D. Recent insights on the genetics and epigenetics of endometriosis. Clin Genet 2016; 91: 254-264. Calicchio R, Doridot L, Miralles F, Méhats C, Vaiman D. DNA methylation, an epigenetic mode of gene expression regulation in reproductive science. Curr Pharm Des 2014; 20: 1726-1750. Oliveira AM. DNA methylation: a permissive mark in memory formation and maintenance. Learn Mem 2016; 23: 587-593. Meier K, Recillastarga F. New insights on the role of DNA methylation from a global view. Front Biosci (Landmark Ed) 2017; 22: 644-668. Wang J, Gong L, Tan Y, Hui R, Wang Y. Hypertensive epigenetics: from DNA methylation to microRNAs. J Hum Hypertens 2015; 29: 575-82. Pouliot M C, Labrie Y, Diorio C, Durocher F. The Role of Methylation in Breast Cancer Susceptibility and Treatment. Anticancer Res 2015; 35: 4569-4574. Celebiler CA, Sevinc AI, Saydam S, Canda T, Baskan Z. Promoter methylation and expression changes of CDH1 and P16 genes in invasive breast cancer and adjacent normal breast tissue. Neoplasma 2010; 57: 465. De Leon MC, Cardenas H, Emerson R, Matei D. Transmembrane protein 88 (TMEM88) promoter hypomethylation is associated with cisplatin resistance in ovarian cancer. Gynecol Oncol 2015; 137: 173. Schmid G, Notaro S, Reimer D, Abdel-Azim S, Duggan-Peer M, Holly J, et al. Expression and promotor hypermethylation of miR-34a in the various histological subtypes of ovarian cancer. BMC Cancer 2016; 16: 102. Zidan HE, Rezk NA, Alnemr AAA, Abdel Ghany AM. COX-2 gene promoter DNA methylation status in eutopic and ectopic endometrium of Egyptian women with endometriosis. J Reprod Immunol 2015; 112: 63-67. Andersson KL, Bussani C, Fambrini M, Polverino V, Taddei GL, Gemzell-Danielsson K, et al. DNA methylation of HOXA10 in eutopic and ectopic endometrium. Hum Reprod 2014; 29: 1906-1911. Sung CO, Lee KW, Han S, Kim SH. Twist1 is up-regulated in gastric cancer-associated fibroblasts with poor clinical outcomes. Am J Pathol 2011; 179: 1827-1838. Dirks RA, Stunnenberg HG, Marks H. Genome wide epigenomic profiling for biomarker discovery. Clin Epigenetics 2016; 8: 122. Li X, Bao X, Wang R. Neurogenesis-based epigenetic therapeutics for Alzheimer's disease. Mol Med Rep 2016; 14: 1043-1054. Stalberg P, Westin G, Thirlwell C. Genetics and epigenetics in small intestinal neuroendocrine tumours. J Intern Med 2016; 280: 584-594. Goel A. DNA methylation-based fecal biomarkers for the noninvasive screening of GI cancers. Future Oncol 2010; 6: 333-336. Guillamot M, Cimmino L, Aifantis I. The Impact of DNA Methylation in Hematopoietic Malignancies. Trends Cancer 2016; 2: 70-83. Geens M, Seriola A, Barbe L, Santalo J, Veiga A, Dée K, et al. Female human pluripotent stem cells rapidly lose X chromosome inactivation marks and progress to a skewed methylation pattern during culture. Mol Hum Reprod 2016; 2: 285-298. Hoeijmakers L, Kempe H, Verschure PJ. Epigenetic imprinting during assisted reproductive technologies: The effect of temporal and cumulative fluctuations in methionine cycling on the DNA methylation state. Mol Reprod Dev 2016; 83: 94-107 Marks DL, Olson RL, Fernandez-Zapico ME. Epigenetic control of the tumor microenvironment. Epigenomics 2016; 8: 1671-1687. Larrent L, Wong E, Li G, Huynh T, Tsirigos A, Ong CT, et al. Dynamic changes in the human methylome during differentiation. Genome Res 2010; 20: 320-331. Grigorenko EL, Kornilov SA, Naumova OY. Epigenetic regulation of cognition: A circumscribed review of the field. Dev Psychopathol 2016; 28: 1285-1304. Wu H, Zhao M, Tan L, Lu Q. The key culprit in the pathogenesis of systemic lupus erythematosus: Aberrant DNA methylation. Autoimmun Rev 2016; 15: 684-689. Dowson C, O'Reilly S. DNA methylation in fibrosis. Eur J Cell Biol 2016; 95: 323-330. Xu P, Hu G, Luo C, Liang Z. DNA methyltransferase inhibitors: an updated patent review (2012-2015). Expert Opin Ther Pat 2016; 26: 1017-1030. Antelo M, Balaguer F, Shia J, Shen Y, Hur K, Moreira L, et al. A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer. PLos One 2012; 7: 45357. Earp MA, Cunningham JM. DNA methylation changes in epithelial ovarian cancer histotypes. Genomics 2015; 106: 311-321. Lee KW, Yeo SY, Sung CO, Kim SH. Twist1 is a key regulator of cancer-associated fibroblasts. Cancer Res 2015; 75: 73-85. Fantony JJ, Abern MR, Gopalakrishna A, Owusu R, Jack TayK, Lance RS, et al. Multi-institutional external validation of urinary TWIST1 and NID2 methylation as a diagnostic test forbladder cancer. Urol Oncol 2015; 33: 387. Satoh K, Hamada S, Kimura K, Kanno A, Hirota M, Umino J, et al. Up-regulation of MSX2 enhances the malignant phenotype and is associated with twist 1 expression in human pancreatic cancer cells. Am J Pathol 2008; 172: 926-939. Zou H, Feng X, Cao JG. Twist in hepatocellular carcinoma: pathophysiology and therapeutics. Hepatol Int 2015; 9: 399-405. Liu ZJ, Maekawa M. Polymerasechain reaction-based methods of DNA methylation analysis. Anal Biochem 2003; 317: 259-265.

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Condition tags

endometriosisinfertility

MeSH descriptors

DNA Methylation Endometriosis Nuclear Proteins Twist-Related Protein 1 Adult CpG Islands CpG Islands DNA Methylation Endometriosis Endometrium Endometrium Endometrium Female Gene Expression Regulation Genetic Loci Humans Nuclear Proteins Nuclear Proteins Promoter Regions, Genetic Stromal Cells

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