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Erschienen in: Archives of Gynecology and Obstetrics 3/2020

01.03.2020 | Gynecologic Endocrinology and Reproductive Medicine

Mucin gene polymorphisms are associated with endometriosis in Korean women

verfasst von: Jin-Ho Kim, Tae-Hee Kim, Yeon-Suk Kim, Won-Cheoul Jang, Aeli Ryu, Ji-Young Hwang, Hae-Hyeog Lee

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 3/2020

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Abstract

Objective

Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relationship between MUC1 and MUC4 single-nucleotide polymorphisms (SNPs) and the risk for endometriosis.

Methods

We performed a case–controlled study of 29 endometriosis clinical samples and 27 functional cysts as control. Sixteen SNPs (rs145224844, rs139620330, rs144273480, rs1611770, rs146141676, rs201798179, rs201815857, rs199840128, rs200788986, rs141460657, rs183700327, rs199768496, rs191544901, rs200639498, rs148332231, and rs11465209) of MUC1 gene and eight SNPs (rs1104760, rs1106502, rs882605, rs2291651, rs2291652, rs2291653, rs2291654, and rs375068067) of the MUC4 gene were identified. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.

Results

The single mutation analysis of MUC4 showed that MUC4 mutations had no effect on the risk for endometriosis, but the frequencies of haplotypes [T/T + T/T + C/C] (rs2291653, 2291654 and rs375068067) were associated with endometriosis.

Conclusion

The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women.
Literatur
1.
Zurück zum Zitat Giudice LC, Kao LC (2004) Endometriosis. Lancet 364(9447):1789–1799CrossRef Giudice LC, Kao LC (2004) Endometriosis. Lancet 364(9447):1789–1799CrossRef
2.
Zurück zum Zitat Vercellini P et al (2009) Endometriosis: current therapies and new pharmacological developments. Drugs 69(6):649–675CrossRef Vercellini P et al (2009) Endometriosis: current therapies and new pharmacological developments. Drugs 69(6):649–675CrossRef
3.
Zurück zum Zitat Melin A et al (2006) Endometriosis and the risk of cancer with special emphasis on ovarian cancer. Hum Reprod 21(5):1237–1242CrossRef Melin A et al (2006) Endometriosis and the risk of cancer with special emphasis on ovarian cancer. Hum Reprod 21(5):1237–1242CrossRef
4.
Zurück zum Zitat Nagle CM et al (2008) Endometrioid and clear cell ovarian cancers: a comparative analysis of risk factors. Eur J Cancer 44(16):2477–2484CrossRef Nagle CM et al (2008) Endometrioid and clear cell ovarian cancers: a comparative analysis of risk factors. Eur J Cancer 44(16):2477–2484CrossRef
5.
Zurück zum Zitat Budiu RA et al (2009) A conditional mouse model for human MUC1-positive endometriosis shows the presence of anti-MUC1 antibodies and Foxp3+ regulatory T cells. Dis Model Mech 2(11–12):593–603CrossRef Budiu RA et al (2009) A conditional mouse model for human MUC1-positive endometriosis shows the presence of anti-MUC1 antibodies and Foxp3+ regulatory T cells. Dis Model Mech 2(11–12):593–603CrossRef
6.
Zurück zum Zitat Chang CY et al (2011) MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility. BMC Med 9:19CrossRef Chang CY et al (2011) MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility. BMC Med 9:19CrossRef
7.
Zurück zum Zitat Gupta S et al (2008) Pathogenic mechanisms in endometriosis-associated infertility. Fertil Steril 90(2):247–257CrossRef Gupta S et al (2008) Pathogenic mechanisms in endometriosis-associated infertility. Fertil Steril 90(2):247–257CrossRef
8.
Zurück zum Zitat Socolov R et al (2011) The value of serological markers in the diagnosis and prognosis of endometriosis: a prospective case-control study. Eur J Obstet Gynecol Reprod Biol 154(2):215–217CrossRef Socolov R et al (2011) The value of serological markers in the diagnosis and prognosis of endometriosis: a prospective case-control study. Eur J Obstet Gynecol Reprod Biol 154(2):215–217CrossRef
9.
Zurück zum Zitat Yonezawa S et al (2010) Significance of mucin expression in pancreatobiliary neoplasms. J Hepatobiliary Pancreat Sci 17(2):108–124CrossRef Yonezawa S et al (2010) Significance of mucin expression in pancreatobiliary neoplasms. J Hepatobiliary Pancreat Sci 17(2):108–124CrossRef
10.
Zurück zum Zitat Borchers MT, Carty MP, Leikauf GD (1999) Regulation of human airway mucins by acrolein and inflammatory mediators. Am J Physiol 276(4 Pt 1):L549–L555PubMed Borchers MT, Carty MP, Leikauf GD (1999) Regulation of human airway mucins by acrolein and inflammatory mediators. Am J Physiol 276(4 Pt 1):L549–L555PubMed
11.
Zurück zum Zitat Gensch E et al (2004) Tobacco smoke control of mucin production in lung cells requires oxygen radicals AP-1 and JNK. J Biol Chem 279(37):39085–39093CrossRef Gensch E et al (2004) Tobacco smoke control of mucin production in lung cells requires oxygen radicals AP-1 and JNK. J Biol Chem 279(37):39085–39093CrossRef
12.
Zurück zum Zitat Misquitta CM et al (2001) The role of 3'-untranslated region (3'-UTR) mediated mRNA stability in cardiovascular pathophysiology. Mol Cell Biochem 224(1–2):53–67CrossRef Misquitta CM et al (2001) The role of 3'-untranslated region (3'-UTR) mediated mRNA stability in cardiovascular pathophysiology. Mol Cell Biochem 224(1–2):53–67CrossRef
13.
Zurück zum Zitat Perrais M et al (2002) Induction of MUC2 and MUC5AC mucins by factors of the epidermal growth factor (EGF) family is mediated by EGF receptor/Ras/Raf/extracellular signal-regulated kinase cascade and Sp1. J Biol Chem 277(35):32258–32267CrossRef Perrais M et al (2002) Induction of MUC2 and MUC5AC mucins by factors of the epidermal growth factor (EGF) family is mediated by EGF receptor/Ras/Raf/extracellular signal-regulated kinase cascade and Sp1. J Biol Chem 277(35):32258–32267CrossRef
14.
Zurück zum Zitat Polosa R et al (2002) Expression of c-erbB receptors and ligands in the bronchial epithelium of asthmatic subjects. J Allergy Clin Immunol 109(1):75–81CrossRef Polosa R et al (2002) Expression of c-erbB receptors and ligands in the bronchial epithelium of asthmatic subjects. J Allergy Clin Immunol 109(1):75–81CrossRef
15.
Zurück zum Zitat Price-Schiavi SA et al (1998) Post-transcriptional regulation of a milk membrane protein, the sialomucin complex (Ascites sialoglycoprotein (ASGP)-1/ASGP-2, rat muc4), by transforming growth factor beta. J Biol Chem 273(52):35228–35237CrossRef Price-Schiavi SA et al (1998) Post-transcriptional regulation of a milk membrane protein, the sialomucin complex (Ascites sialoglycoprotein (ASGP)-1/ASGP-2, rat muc4), by transforming growth factor beta. J Biol Chem 273(52):35228–35237CrossRef
16.
Zurück zum Zitat Scholz C et al (2012) Association of placental inflammation with fetomaternal hemorrhage and loss of placental mucin-1. Arch Gynecol Obstet 285(3):605–612CrossRef Scholz C et al (2012) Association of placental inflammation with fetomaternal hemorrhage and loss of placental mucin-1. Arch Gynecol Obstet 285(3):605–612CrossRef
17.
Zurück zum Zitat Julian J et al (2005) Compartmental distinctions in uterine Muc-1 expression during early pregnancy in cynomolgous macaque (Macaca fascicularis) and baboon (Papio anubis). Hum Reprod 20(6):1493–1503CrossRef Julian J et al (2005) Compartmental distinctions in uterine Muc-1 expression during early pregnancy in cynomolgous macaque (Macaca fascicularis) and baboon (Papio anubis). Hum Reprod 20(6):1493–1503CrossRef
18.
Zurück zum Zitat Vujisic S et al (2002) Evaluation of serum CA 125 concentration before and during hormonal induced cycles as predictor of IVF/ET outcome. Am J Reprod Immunol 48(6):355–360CrossRef Vujisic S et al (2002) Evaluation of serum CA 125 concentration before and during hormonal induced cycles as predictor of IVF/ET outcome. Am J Reprod Immunol 48(6):355–360CrossRef
19.
Zurück zum Zitat Audie JP et al (1995) Mucin gene expression in the human endocervix. Hum Reprod 10(1):98–102CrossRef Audie JP et al (1995) Mucin gene expression in the human endocervix. Hum Reprod 10(1):98–102CrossRef
20.
Zurück zum Zitat Bafna S, Kaur S, Batra SK (2010) Membrane-bound mucins: the mechanistic basis for alterations in the growth and survival of cancer cells. Oncogene 29(20):2893–2904CrossRef Bafna S, Kaur S, Batra SK (2010) Membrane-bound mucins: the mechanistic basis for alterations in the growth and survival of cancer cells. Oncogene 29(20):2893–2904CrossRef
21.
Zurück zum Zitat Braga VM, Gendler SJ (1993) Modulation of Muc-1 mucin expression in the mouse uterus during the estrus cycle, early pregnancy and placentation. J Cell Sci 105(Pt 2):397–405PubMed Braga VM, Gendler SJ (1993) Modulation of Muc-1 mucin expression in the mouse uterus during the estrus cycle, early pregnancy and placentation. J Cell Sci 105(Pt 2):397–405PubMed
22.
Zurück zum Zitat Chaturvedi P et al (2008) MUC4 mucin interacts with and stabilizes the HER2 oncoprotein in human pancreatic cancer cells. Cancer Res 68(7):2065–2070CrossRef Chaturvedi P et al (2008) MUC4 mucin interacts with and stabilizes the HER2 oncoprotein in human pancreatic cancer cells. Cancer Res 68(7):2065–2070CrossRef
23.
Zurück zum Zitat Dharmaraj N et al (2014) Expression of the transmembrane mucins, MUC1, MUC4 and MUC16, in normal endometrium and in endometriosis. Hum Reprod 29(8):1730–1738CrossRef Dharmaraj N et al (2014) Expression of the transmembrane mucins, MUC1, MUC4 and MUC16, in normal endometrium and in endometriosis. Hum Reprod 29(8):1730–1738CrossRef
24.
Zurück zum Zitat Margarit L et al (2010) MUC1 as a discriminator between endometrium from fertile and infertile patients with PCOS and endometriosis. J Clin Endocrinol Metab 95(12):5320–5329CrossRef Margarit L et al (2010) MUC1 as a discriminator between endometrium from fertile and infertile patients with PCOS and endometriosis. J Clin Endocrinol Metab 95(12):5320–5329CrossRef
25.
Zurück zum Zitat Shen F et al (2015) Decreased expression of mucin-1 in endometriosis endometrium correlated with progesterone receptor B involved in infertility. Arch Gynecol Obstet 291(2):439–445CrossRef Shen F et al (2015) Decreased expression of mucin-1 in endometriosis endometrium correlated with progesterone receptor B involved in infertility. Arch Gynecol Obstet 291(2):439–445CrossRef
26.
Zurück zum Zitat Walters E (2016) The P-value and the problem of multiple testing. Reprod Biomed Online 32(4):348–349CrossRef Walters E (2016) The P-value and the problem of multiple testing. Reprod Biomed Online 32(4):348–349CrossRef
28.
Zurück zum Zitat de Ziegler D, Borghese B, Chapron C (2010) Endometriosis and infertility: pathophysiology and management. Lancet 376(9742):730–738CrossRef de Ziegler D, Borghese B, Chapron C (2010) Endometriosis and infertility: pathophysiology and management. Lancet 376(9742):730–738CrossRef
29.
Zurück zum Zitat Greene R et al (2009) Diagnostic experience among 4,334 women reporting surgically diagnosed endometriosis. Fertil Steril 91(1):32–39CrossRef Greene R et al (2009) Diagnostic experience among 4,334 women reporting surgically diagnosed endometriosis. Fertil Steril 91(1):32–39CrossRef
30.
Zurück zum Zitat Ulukus M, Cakmak H, Arici A (2006) The role of endometrium in endometriosis. J Soc Gynecol Investig 13(7):467–476CrossRef Ulukus M, Cakmak H, Arici A (2006) The role of endometrium in endometriosis. J Soc Gynecol Investig 13(7):467–476CrossRef
31.
Zurück zum Zitat Furuya M et al (2017) ZEB1 expression is a potential indicator of invasive endometriosis. Acta Obstet Gynecol Scand 96:1128–1135CrossRef Furuya M et al (2017) ZEB1 expression is a potential indicator of invasive endometriosis. Acta Obstet Gynecol Scand 96:1128–1135CrossRef
Metadaten
Titel
Mucin gene polymorphisms are associated with endometriosis in Korean women
verfasst von
Jin-Ho Kim
Tae-Hee Kim
Yeon-Suk Kim
Won-Cheoul Jang
Aeli Ryu
Ji-Young Hwang
Hae-Hyeog Lee
Publikationsdatum
01.03.2020
Verlag
Springer Berlin Heidelberg
Erschienen in
Archives of Gynecology and Obstetrics / Ausgabe 3/2020
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI
https://doi.org/10.1007/s00404-019-05409-0

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