Mucin gene polymorphisms are associated with endometriosis in Korean women

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.

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.

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.

The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women. Similar content being viewed by others Abbreviations - MUC1: - Mucin-1 - MUC4: - Mucin-4 - SNP: - Single nucleotide polymorphism

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J Soc Gynecol Investig 13(7):467–476 Furuya M et al (2017) ZEB1 expression is a potential indicator of invasive endometriosis. Acta Obstet Gynecol Scand 96:1128–1135 Funding This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (no. 2018R1C1B5046649). This study was supported by the Soonchunhyang University Research Fund. Author information Authors and Affiliations Contributions J-HK: project development; data collection; manuscript writing. T-HK: giving important intellectual content, data analysis. Y-SK: data management; project development; data analysis. W-CJ: giving important intellectual content; project development. AR: data collection. J-YH: manuscript editing. Final approval of the version to be submitted. H-HL: conception and design; final approval of the version to be submitted. Corresponding authors Ethics declarations Conflict of interest The authors declare that they have no conflict of interest. Ethical approval All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. All procedures were conducted using protocols approved by the ethics committee of Soonchunhyang University Bucheon Hospital. Informed consent Informed consent was obtained from all individual participants included in the study. Additional information Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions About this article Cite this article Kim, JH., Kim, TH., Kim, YS. et al. Mucin gene polymorphisms are associated with endometriosis in Korean women. Arch Gynecol Obstet 301, 801–807 (2020). https://doi.org/10.1007/s00404-019-05409-0 Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s00404-019-05409-0