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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2012

Open Access 01-12-2012 | Research article

MUC2polymorphisms are associated with endometriosis development and infertility: a case-control study

Authors: Cherry Yin-Yi Chang, Yi Chen, Wu-Chou Lin, Chih-Mei Chen, Chih-Ping Chen, Shan-Chih Lee, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai

Published in: BMC Medical Genetics | Issue 1/2012

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Abstract

Background

Mucins are highly glycosylated proteins protecting and lubricating epithelial surface of respiratory, gastrointestinal and reproductive tracts. Members of the mucin protein family have been suggested to play an important role in development of endometriosis and infertility. This study investigates genetic association of mucin2 (MUC2) with the risk of endometriosis and endometriosis-related infertility.

Methods

This case-control study was conducted at China Medical University Hospital, with 195 endometriosis patients and 196 healthy controls enrolled. Genotyping of six SNPs (rs2856111, rs11245936, rs10794288, rs10902088, rs7103978 and rs11245954) within MUC2 gene were performed by using Taqman genotyping assay; individual SNP and haplotype associations with endometriosis and endometriosis-related infertility were assessed by χ 2 test.

Results

Endometriosis patients exhibit significantly lower frequency of the rs10794288 C allele, the rs10902088 T allele and the rs7103978 G allele (P = 0.030, 0.013 and 0.040, respectively). In addition, the rs10794288 C allele and the rs10902088 T allele were also less abundant in patients with infertility versus fertile ones (P = 0.015 and 0.024, respectively). Haplotype analysis of the endometriosis associated SNPs in MUC2 also showed significantly association between the most common haplotypes and endometriosis or endometriosis-related infertility.

Conclusions

MUC2 polymorphisms, especially rs10794288 and rs10902088, are associated with endometriosis as well as endometriosis-related infertility. Our data present MUC2 as a new candidate involved in development of endometriosis and related infertility in Taiwanese Han women.
Appendix
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Metadata
Title
MUC2polymorphisms are associated with endometriosis development and infertility: a case-control study
Authors
Cherry Yin-Yi Chang
Yi Chen
Wu-Chou Lin
Chih-Mei Chen
Chih-Ping Chen
Shan-Chih Lee
Jim Jinn-Chyuan Sheu
Fuu-Jen Tsai
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-13-15

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