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Archives of Gynecology and Obstetrics

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01-03-2020 | Endometriosis | Gynecologic Endocrinology and Reproductive Medicine

Mucin gene polymorphisms are associated with endometriosis in Korean women

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

Published in: Archives of Gynecology and Obstetrics | Issue 3/2020

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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Title: Mucin gene polymorphisms are associated with endometriosis in Korean women
Authors: Jin-Ho Kim
Tae-Hee Kim
Yeon-Suk Kim
Won-Cheoul Jang
Aeli Ryu
Ji-Young Hwang
Hae-Hyeog Lee
Publication date: 01-03-2020
Publisher: Springer Berlin Heidelberg
Keywords: Endometriosis
Polymerase Chain Reaction
Published in: Archives of Gynecology and Obstetrics / Issue 3/2020
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-019-05409-0

ACC 2024 Congress

Springer Medicine

Mucin gene polymorphisms are associated with endometriosis in Korean women

Abstract

Objective

Methods

Results

Conclusion

ACC 2024 Congress

Springer Medicine

Abstract

Objective

Methods

Results

Conclusion

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