ArticleBMC medical genetics2015
Genetic variations of MUC17 are associated with endometriosis development and related infertility.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 26 citations in OpenAlex.
- Statistical methods to disentangle genetic effects influencing infertility and early fetal viability with a genome-wide application.PLoS genetics · 2025Article
- Relationship between mucin gene polymorphisms and different types of gallbladder stones.BMC medical genomics · 2025Article
- Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study.Journal of human genetics · 2024Article
- Article
- Association between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis.Archives of gynecology and obstetrics · 2021Article
- The Genetic Background of Endometriosis: Can ESR2 and CYP19A1 Genes Be a Potential Risk Factor for Its Development?International journal of molecular sciences · 2020Review
- Immune Cytolytic Activity Is Associated With Genetic and Clinical Properties of Glioma.Frontiers in immunology · 2019Article
- A review of the risk factors, genetics and treatment of endometriosis in Chinese women: a comparative update.Reproductive health · 2018Review
- Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.Journal of assisted reproduction and genetics · 2017Article
- Transmembrane Mucins: Signaling Receptors at the Intersection of Inflammation and Cancer.Journal of innate immunity · 2017Review
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic alterations of mucin genes, such as MUC2 and MUC4, were previously identified to be associated with endometriosis and related infertility. Additionally, gene expression profiling has confirmed MUC17 to be overexpressed in mucinous ovarian carcinoma; however, its associated risk for endometriosis remains unclear. This study was focused on the potential impact of genetic variations in MUC17 on endometriosis development and associated clinical features.
methodsThe study subjects included 189 female Taiwanese patients with pathology-proven endometriosis and 191 healthy Taiwanese women as controls. Five single-nucleotide polymorphisms (rs4729645, rs10953316, rs74974199, rs4729655, and rs4729656) within the MUC17 gene were selected and genotyped using the Taqman genotyping assay to examine the allele frequency and genotype distributions of MUC17 polymorphisms.
resultsGenotyping revealed that the A allele at rs10953316 in MUC17 was a protective genetic factor in endometriosis development (p = 0.008; OR = 0.53; 95% CI: 0.36-0.79). Genetic variation of rs4729655 protected patients against endometriosis-induced infertility, but was associated with a higher cancer antigen 125 (CA125) level. Base-pairing analysis, called MaxExpect, predicted an additional loop in the mRNA structure caused by rs10953316 polymorphism, possibly influencing ribosome sliding and translation efficiency. Such predictions were confirmed by immunohistochemistry that patients with AA genotype at rs10953316 showed low MUC17 levels in their endometrium, patients with GA genotype showed moderate levels, and strong staining could be found in patients with GG genotype.
conclusionsMUC17 polymorphisms are involved in endometriosis development and the associated infertility in the Taiwanese population.
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