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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2015

Open Access 01-12-2015 | Research article

Genetic variations of MUC17 are associated with endometriosis development and related infertility

Authors: Ching-Wen Yang, Cherry Yin-Yi Chang, Ming-Tsung Lai, Hui-Wen Chang, Cheng-Chan Lu, Yi Chen, Chih-Mei Chen, Shan-Chih Lee, Pei-Wen Tsai, Su-Han Yang, Chih-Hung Lin, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai

Published in: BMC Medical Genetics | Issue 1/2015

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Abstract

Background

Genetic alterations of mucin genes, such as MUC2 and MUC4, were previously identified to be associated with endometriosis and related infertility. Additionally, gene expression profiling has confirmed MUC17 to be overexpressed in mucinous ovarian carcinoma; however, its associated risk for endometriosis remains unclear. This study was focused on the potential impact of genetic variations in MUC17 on endometriosis development and associated clinical features.

Methods

The study subjects included 189 female Taiwanese patients with pathology-proven endometriosis and 191 healthy Taiwanese women as controls. Five single-nucleotide polymorphisms (rs4729645, rs10953316, rs74974199, rs4729655, and rs4729656) within the MUC17 gene were selected and genotyped using the Taqman genotyping assay to examine the allele frequency and genotype distributions of MUC17 polymorphisms.

Results

Genotyping revealed that the A allele at rs10953316 in MUC17 was a protective genetic factor in endometriosis development (p = 0.008; OR = 0.53; 95 % CI: 0.36-0.79). Genetic variation of rs4729655 protected patients against endometriosis-induced infertility, but was associated with a higher cancer antigen 125 (CA125) level. Base-pairing analysis, called MaxExpect, predicted an additional loop in the mRNA structure caused by rs10953316 polymorphism, possibly influencing ribosome sliding and translation efficiency. Such predictions were confirmed by immunohistochemistry that patients with AA genotype at rs10953316 showed low MUC17 levels in their endometrium, patients with GA genotype showed moderate levels, and strong staining could be found in patients with GG genotype.

Conclusions

MUC17 polymorphisms are involved in endometriosis development and the associated infertility in the Taiwanese population.
Appendix
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Metadata
Title
Genetic variations of MUC17 are associated with endometriosis development and related infertility
Authors
Ching-Wen Yang
Cherry Yin-Yi Chang
Ming-Tsung Lai
Hui-Wen Chang
Cheng-Chan Lu
Yi Chen
Chih-Mei Chen
Shan-Chih Lee
Pei-Wen Tsai
Su-Han Yang
Chih-Hung Lin
Jim Jinn-Chyuan Sheu
Fuu-Jen Tsai
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2015
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-015-0209-7

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