<it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility
<p>Abstract</p> <p>Background</p> <p>Mucin 4 (<it>MUC4</it>) 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.</p> <p>Methods...
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| Format: | Article |
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BMC
2011-02-01
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| Series: | BMC Medicine |
| Online Access: | http://www.biomedcentral.com/1741-7015/9/19 |
| _version_ | 1811298091162140672 |
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| author | Lai Chih-Ho Chen Chih-Ping Lin Chia-Ying Chen Chih-Mei Chang Hui-Wen Chang Cherry Lin Wei-Yong Liu Hsing-Ping Sheu Jim Tsai Fuu-Jen |
| author_facet | Lai Chih-Ho Chen Chih-Ping Lin Chia-Ying Chen Chih-Mei Chang Hui-Wen Chang Cherry Lin Wei-Yong Liu Hsing-Ping Sheu Jim Tsai Fuu-Jen |
| author_sort | Lai Chih-Ho |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Mucin 4 (<it>MUC4</it>) 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.</p> <p>Methods</p> <p>To correlate <it>MUC4 </it>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 <it>MUC4 </it>polymorphisms.</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p><it>MUC4 </it>polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population.</p> |
| first_indexed | 2024-04-13T06:13:28Z |
| format | Article |
| id | doaj.art-82cedef09ebd40848fc5a5f1a35a47a2 |
| institution | Directory Open Access Journal |
| issn | 1741-7015 |
| language | English |
| last_indexed | 2024-04-13T06:13:28Z |
| publishDate | 2011-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medicine |
| spelling | doaj.art-82cedef09ebd40848fc5a5f1a35a47a22022-12-22T02:58:55ZengBMCBMC Medicine1741-70152011-02-01911910.1186/1741-7015-9-19<it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertilityLai Chih-HoChen Chih-PingLin Chia-YingChen Chih-MeiChang Hui-WenChang CherryLin Wei-YongLiu Hsing-PingSheu JimTsai Fuu-Jen<p>Abstract</p> <p>Background</p> <p>Mucin 4 (<it>MUC4</it>) 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.</p> <p>Methods</p> <p>To correlate <it>MUC4 </it>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 <it>MUC4 </it>polymorphisms.</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p><it>MUC4 </it>polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population.</p>http://www.biomedcentral.com/1741-7015/9/19 |
| spellingShingle | Lai Chih-Ho Chen Chih-Ping Lin Chia-Ying Chen Chih-Mei Chang Hui-Wen Chang Cherry Lin Wei-Yong Liu Hsing-Ping Sheu Jim Tsai Fuu-Jen <it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility BMC Medicine |
| title | <it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility |
| title_full | <it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility |
| title_fullStr | <it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility |
| title_full_unstemmed | <it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility |
| title_short | <it>MUC4 </it>gene polymorphisms associate with endometriosis development and endometriosis-related infertility |
| title_sort | it muc4 it gene polymorphisms associate with endometriosis development and endometriosis related infertility |
| url | http://www.biomedcentral.com/1741-7015/9/19 |
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