MUC4gene polymorphisms associate with endometriosis development and endometriosis-related infertility

Cherry Yin-Yi Chang, Cherry Yin‐Yi Chang, Hui-Wen Chang, Chang Hui-Wen, Chih‐Mei Chen, Chih-Mei Chen, Chia-Ying Lin, Chia‐Ying Lin, Chih-Ping Chen, Chih‐Ping Chen, Chih‐Ho Lai, Chih-Ho Lai, Wei-Yong Lin, Wei‐Yong Lin, Hsing-Ping Liu, Jim Jinn-Chyuan Sheu, Jim Jinn‐Chyuan Sheu, Fuu‐Jen Tsai, Fuu-Jen Tsai
BMC medicine · 2011 · vol. 9(1) , pp. 19 · doi:10.1186/1741-7015-9-19 · PMID:21349170 · PMC3052195 · W2097699992
article OA: gold CC0 ⤵ 12 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

MUC4 gene polymorphisms, specifically at rs882605 and rs1104760, were found to be significantly associated with endometriosis development and infertility in a Taiwanese population.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This Taiwanese case-control study investigated whether six MUC4 single-nucleotide polymorphisms (SNPs) are associated with endometriosis risk and with endometriosis-related infertility, genotyping 140 surgically confirmed endometriosis patients and 150 age-matched healthy women. Using TaqMan genotyping and haplotype/allelic analyses, the authors found that the T/G genotype at rs882605 and the T-T haplotype (rs882605 and rs1104760) were more frequent in patients, and certain alleles were associated with more advanced endometriosis stage; they additionally report that rs882605 (G allele) was a key genetic factor for infertility among patients. They supported potential biological relevance via protein sequence analysis predicting amino-acid substitutions in putative functional regions, including the type D von Willebrand factor domain. A major limitation is that the study is limited to peripheral-blood DNA and association testing without direct functional validation of how these variants alter MUC4 in endometriotic tissue. This paper is centrally about endometriosis — it links MUC4 gene polymorphisms to endometriosis development and endometriosis-related infertility in a Taiwanese population.

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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.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Infertility Mucin-4 Polymorphism, Single Nucleotide Case-Control Studies Endometriosis Female Gene Frequency Humans Infertility Mucin-4 Polymerase Chain Reaction Taiwan

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