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MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility.

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.

SUBMITTER: Chang CY

PROVIDER: S-EPMC3052195 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility.

Chang Cherry Yin-Yi CY Chang Hui-Wen HW Chen Chih-Mei CM Lin Chia-Ying CY Chen Chih-Ping CP Lai Chih-Ho CH Lin Wei-Yong WY Liu Hsing-Ping HP Sheu Jim Jinn-Chyuan JJ Tsai Fuu-Jen FJ

BMC medicine 20110224

<h4>Background</h4>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.<h4>Methods</h4>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 an ...[more]

PMID: 21349170

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Project description:The Fc receptor-like 3 (FCRL3) gene was reported to be linked to a variety of autoimmune diseases, including endometriosis-related infertility. However, this linkage has not been studied in Chinese population and there has been no meta-analysis on the interrelationship of FCRL3 gene and endometriosis-related infertility. The aim of the study was to investigate the association between FCRL3 genetic polymorphisms and the risk of endometriosis-related infertility in Han Chinese, and a further meta-analysis was conducted to confirm our results.Four single nucleotide polymorphisms (SNPs) (rs7528684 [FCRL3_3], rs11264799 [FCRL3_4], rs945635 [FCRL3_5], and rs3761959 [FCRL3_6]) on FCRL3 gene were genotyped in a case-control cohort composed of 217 patients suffering from endometriosis-related infertility and 220 healthy controls using cleaved amplification polymorphism sequence-tagged sites (polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP). Odds ratio (OR) and its 95% confidence interval (CI) was used to evaluate the association quantitatively. Furthermore, a meta-analysis of previous studies including the present study was implemented through Stata 11.0 (Stata Corporation, College Station, TX).We found an approximately 1.4-fold significantly increased frequency of the FCRL3_3 variant in women with endometriosis-related infertility over the controls (OR = 1.41 [95% CI = 1.08-1.84], P = 0.013). However, no significant difference was found between women with endometriosis-related infertility and controls for FCRL3_4, FCRL3_5, and FCRL3_6. Regardless of the symptoms and the revised classification of the American Society of Reproductive Medicine (rASRM) stage of endometriosis, there was a significant association between FCRL3_3 variant and an increased risk of endometriosis-related infertility. Meta-analysis of previous studies combined with the present study further confirmed the association between FCRL3_3 and the risk of endometriosis-related infertility.In summary, the present study suggested that FCRL3_3 variant was associated with an increased risk of endometriosis-related infertility, regardless of symptoms, and rASRM stage of the patients. Meta-analysis of previous studies combined with the present study further confirmed our results. Further large-scale studies in the future are warranted to explore the association between FCRL3 genetic polymorphisms and endometriosis-related infertility, as well as other human diseases, in Asian and other ethnicities.

Dataset Information

MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility.

Publications

MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility.

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