Abstract
BackgroundMucin 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.MethodsTo 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.ResultsBoth 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.ConclusionsMUC4 polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population.
Highlights
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
The major allele was used as the reference for the allelic analyses
MUC4 gene polymorphisms and endometriosis Six single-nucleotide polymorphisms (SNPs) in the extracellular domain of the MUC4 gene with a frequency greater than 20% in Chinese Han Beijing were selected from International HapMap Project databank [33] (Additional file 1, Table S2)
Summary
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. Extensive growth of endometrial cells on the peritoneal surface and invasion of the pelvic organ are very common during the development of endometriosis. This process is frequently associated with several mechanisms involved in angiogenesis and cellular adhesion. An epidemiological study showed that the prevalence rates of endometriosis in patients with endometrioid and clear cell ovarian carcinoma are 19 and 35.9, respectively [14]. These findings suggest that endometriosis and certain types of ovarian cancer may share several common genetic alterations during pathogenesis. Genes that regulate cell mobility and invasion in ovarian cancers are possible candidates for playing roles in endometriosis
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