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Open Access Highly Accessed Research article

MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study

Cherry Yin-Yi Chang12, Yi Chen3, Wu-Chou Lin1, Chih-Mei Chen3, Chih-Ping Chen4, Shan-Chih Lee5, Jim Jinn-Chyuan Sheu367* and Fuu-Jen Tsai38*

Author Affiliations

1 Department of Obstetrics and Gynecology, China Medical University Hospital, 2 Yude Road, 40402 Taichung, Taiwan

2 Institute of Public Health, China Medical University, 91 Hsueh-Shih Road, 40447 Taichung, Taiwan

3 Human Genetics Center, China Medical University Hospital, 2 Yude Road, 40447 Taichung, Taiwan

4 Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92 Sec. 2 Zhongshan Road, 10449 Taipei, Taiwan

5 School of Medical Imaging and Radiological Sciences, Chung Shan Medical University, 110 Sec.1 Jianguo N. Rd, 40201 Taichung, Taiwan

6 School of Chinese Medicine, China Medical University, 91 Hsueh-Shih Road, 40447 Taichung, Taiwan

7 Department of Health and Nutrition Biotechnology, Asia University, 500 Lioufeng Road, 41354 Taichung, Taiwan

8 School of Post-Baccalaureate Chinese Medicine, China Medical University, 91 Hsueh-Shih Road, 40447 Taichung, Taiwan

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BMC Medical Genetics 2012, 13:15  doi:10.1186/1471-2350-13-15

Published: 15 March 2012

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 χ2 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.