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Open Access Research article

MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility

Cherry Yin-Yi Chang12, Hui-Wen Chang3, Chih-Mei Chen4, Chia-Ying Lin4, Chih-Ping Chen5, Chih-Ho Lai6, Wei-Yong Lin47, Hsing-Ping Liu8, Jim Jinn-Chyuan Sheu1049* and Fuu-Jen Tsai114*

Author Affiliations

1 Department of Obstetrics and Gynecology, China Medical University, Taichung, Taiwan

2 Department of Public Health, China Medical University, Taichung, Taiwan

3 Department of Pathology, China Medical University, Taichung, Taiwan

4 Human Genetic Center, China Medical University Hospital, Taichung, Taiwan

5 Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan

6 School of Medicine, China Medical University, Taichung, Taiwan

7 Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan

8 Graduate Institute of Acupuncture Science, China Medical University, Taichung, Taiwan

9 School of Chinese Medicine, China Medical University, Taichung, Taiwan

10 Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan

11 School of Post-Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan

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BMC Medicine 2011, 9:19  doi:10.1186/1741-7015-9-19

Published: 24 February 2011

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.