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Mucin gene polymorphisms are associated with endometriosis in Korean women

  • Gynecologic Endocrinology and Reproductive Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

A Correspondence to this article was published on 09 March 2020

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.

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Abbreviations

MUC1:

Mucin-1

MUC4:

Mucin-4

SNP:

Single nucleotide polymorphism

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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.

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Author notes

  1. Jin-Ho Kim and Tae-Hee Kim contributed equally to this work.

Authors and Affiliations

  1. Institue of Tissue Regeneration Engineering (ITREN), Dankook University, Cheonan, Republic of Korea

    Jin-Ho Kim

  2. Department of Chemistry, College of Natural Science, Dankook University, Cheonan, Republic of Korea

    Jin-Ho Kim & Won-Cheoul Jang

  3. Department of Obstetrics and Gynecology, College of Medicine, Soonchunhyang University Bucheon Hospital, 170 Jomaru-ro, Wonmi-gu, Bucheon-si, Gyeonggi-do, 14584, Republic of Korea

    Tae-Hee Kim, Yeon-Suk Kim & Hae-Hyeog Lee

  4. Department of Interdisciplinary Program in Biomedical Science, Soonchunhyang University Graduate School, Asan, 31538, Republic of Korea

    Yeon-Suk Kim

  5. Department of Obstetrics and Gynecology, College of Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea

    Aeli Ryu

  6. Laboratory of Carbon and Biomedical Engineering, Korea Institute of Carbon Convergence, Jeonju, Republic of Korea

    Ji-Young Hwang

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  1. Jin-Ho Kim
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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

Correspondence to Ji-Young Hwang or Hae-Hyeog Lee.

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The authors declare that they have no conflict of interest.

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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.

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Informed consent was obtained from all individual participants included in the study.

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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

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  • DOI: https://doi.org/10.1007/s00404-019-05409-0

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