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Related Experiment Video

Updated: May 24, 2026

Establishment of an Experimental Mouse Model of Endometrioma to Study its Related Infertility

Establishment of an Experimental Mouse Model of Endometrioma to Study its Related Infertility

Published on: April 5, 2024

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

Cherry Yin-Yi Chang¹, Yi Chen, Wu-Chou Lin

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

BMC Medical Genetics

|March 16, 2012

Summary

Genetic variations in the mucin 2 (MUC2) gene are linked to an increased risk of endometriosis and infertility. Specific MUC2 polymorphisms, particularly rs10794288 and rs10902088, show significant associations with these conditions.

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Last Updated: May 24, 2026

Establishment of an Experimental Mouse Model of Endometrioma to Study its Related Infertility

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Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage

Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage

Published on: August 4, 2021

Area of Science:

Reproductive biology
Human genetics
Molecular medicine

Background:

Mucins are vital glycoproteins that protect and lubricate epithelial surfaces.
Mucin protein family members are implicated in endometriosis and infertility development.
This study focuses on the genetic association of mucin 2 (MUC2) with endometriosis risk.

Purpose of the Study:

To investigate the genetic association between MUC2 gene polymorphisms and the risk of endometriosis.
To examine the relationship between MUC2 gene variations and endometriosis-related infertility.

Main Methods:

A case-control study involving 195 endometriosis patients and 196 healthy controls.
Genotyping of six single nucleotide polymorphisms (SNPs) in the MUC2 gene using Taqman assay.
Statistical analysis (chi-squared test) to assess SNP and haplotype associations with endometriosis and infertility.

Main Results:

Endometriosis patients showed significantly lower frequencies of MUC2 alleles rs10794288 (C), rs10902088 (T), and rs7103978 (G).
The rs10794288 (C) and rs10902088 (T) alleles were less abundant in infertile patients compared to fertile controls.
Haplotype analysis revealed significant associations between common MUC2 haplotypes and endometriosis or endometriosis-related infertility.

Conclusions:

MUC2 gene polymorphisms, specifically rs10794288 and rs10902088, are associated with endometriosis and related infertility.
MUC2 is identified as a potential candidate gene involved in the pathogenesis of endometriosis and infertility.
Findings are specific to Taiwanese Han women, suggesting population-specific genetic factors.