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Published in: BMC Medicine 1/2011

Open Access 01-12-2011 | Research article

MUC4gene polymorphisms associate with endometriosis development and endometriosis-related infertility

Authors: Cherry Yin-Yi Chang, Hui-Wen Chang, Chih-Mei Chen, Chia-Ying Lin, Chih-Ping Chen, Chih-Ho Lai, Wei-Yong Lin, Hsing-Ping Liu, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai

Published in: BMC Medicine | Issue 1/2011

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Abstract

Background

Mucin 4 (MUC4) plays an important role in protecting and lubricating the epithelial surface of reproductive tracts, but its role in the pathogenesis of endometriosis is largely unknown.

Methods

To correlate MUC4 polymorphism with the risk of endometriosis and endometriosis-related infertility, we performed a case-control study of 140 patients and 150 healthy women. Six unique single-nucleotide polymorphisms (SNPs) (rs882605, rs1104760, rs2688513, rs2246901, rs2258447 and rs2291652) were selected for this study. DNA fragments containing the target SNP sites were amplified by polymerase chain reaction using the TaqMan SNP Genotyping Assay System to evaluate allele frequency and distribution of genotype in MUC4 polymorphisms.

Results

Both the T/G genotype of rs882605 and the frequency of haplotype T-T (rs882605 and rs1104760) were higher in patients than in controls and were statistically significant. The frequency of the C allele at rs1104760, the C allele at rs2688513, the G allele at rs2246901 and the A allele at rs2258447 were associated with advanced stage of endometriosis. Moreover, the G allele at rs882605 was verified as a key genetic factor for infertility in patients. Protein sequence analysis indicated that amino acid substitutions by genetic variations at rs882605, rs2688513 and rs2246901 occur in the putative functional loops and the type D von Willebrand factor (VWFD) domain in the MUC4 sequence.

Conclusions

MUC4 polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population.
Appendix
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Metadata
Title
MUC4gene polymorphisms associate with endometriosis development and endometriosis-related infertility
Authors
Cherry Yin-Yi Chang
Hui-Wen Chang
Chih-Mei Chen
Chia-Ying Lin
Chih-Ping Chen
Chih-Ho Lai
Wei-Yong Lin
Hsing-Ping Liu
Jim Jinn-Chyuan Sheu
Fuu-Jen Tsai
Publication date
01-12-2011
Publisher
BioMed Central
Published in
BMC Medicine / Issue 1/2011
Electronic ISSN: 1741-7015
DOI
https://doi.org/10.1186/1741-7015-9-19

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