Mucin gene polymorphisms are associated with endometriosis in Korean women
Objective Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relations...
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| Veröffentlicht in: | Archives of gynecology and obstetrics 2020-03, Vol.301 (3), p.801-807 |
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| creator | Kim, Jin-Ho Kim, Tae-Hee Kim, Yeon-Suk Jang, Won-Cheoul Ryu, Aeli Hwang, Ji-Young Lee, Hae-Hyeog |
| description | Objective
Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relationship between MUC1 and MUC4 single-nucleotide polymorphisms (SNPs) and the risk for endometriosis.
Methods
We performed a case–controlled study of 29 endometriosis clinical samples and 27 functional cysts as control. Sixteen SNPs (rs145224844, rs139620330, rs144273480, rs1611770, rs146141676, rs201798179, rs201815857, rs199840128, rs200788986, rs141460657, rs183700327, rs199768496, rs191544901, rs200639498, rs148332231, and rs11465209) of MUC1 gene and eight SNPs (rs1104760, rs1106502, rs882605, rs2291651, rs2291652, rs2291653, rs2291654, and rs375068067) of the MUC4 gene were identified. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.
Results
The single mutation analysis of MUC4 showed that MUC4 mutations had no effect on the risk for endometriosis, but the frequencies of haplotypes [T/T + T/T + C/C] (rs2291653, 2291654 and rs375068067) were associated with endometriosis.
Conclusion
The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women. |
| doi_str_mv | 10.1007/s00404-019-05409-0 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmed_primary_31858233</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2329739842</sourcerecordid><originalsourceid>FETCH-LOGICAL-c375t-6f9c53584fb6fc8a6c49b426fc51d3ade46d7523e80b4132cd7de75f36d2db563</originalsourceid><addsrcrecordid>eNqNkE1rFTEUhoNY7G31D7iQATdCGXvyNcks5eJ3ixtdh0xypk25k1yTGS7996adWsGFuEkO4XlfTh5CXlJ4SwHUeQEQIFqgfQtSQD2fkA0VnLWgKH1KNtDfzdCpY3JSyg0AZVp3z8gxp1pqxvmGfLlcXIjNFUZs9ml3O6W8vw5lKo3N2NhSkgt2Rt8cwnzdYPRpwjmHVEJpau5rymhjc6iv8Tk5Gu2u4IuH-5T8-PD--_ZTe_Ht4-ftu4vWcSXntht7J7nUYhy60WnbOdEPgtVZUs-tR9F5JRlHDYOgnDmvPCo58s4zP8iOn5I3a-8-p58LltlMoTjc7WzEtBTDOOsV77VgFX39F3qTlhzrdpVSXIjqSVeKrZTLqZSMo9nnMNl8ayiYO9NmNW2qaXNv2kANvXqoXoYJ_WPkt9oKnK3AAYc0FhcwOnzEAEBSrVhf-4HRSuv_p7dhtnNIcZuWONcoX6Ol4vEK859P_mP_X2eSqWg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2373447118</pqid></control><display><type>article</type><title>Mucin gene polymorphisms are associated with endometriosis in Korean women</title><source>MEDLINE</source><source>Springer Journals</source><source>Web of Science - Science Citation Index Expanded - 2020<img src="https://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /></source><creator>Kim, Jin-Ho ; Kim, Tae-Hee ; Kim, Yeon-Suk ; Jang, Won-Cheoul ; Ryu, Aeli ; Hwang, Ji-Young ; Lee, Hae-Hyeog</creator><creatorcontrib>Kim, Jin-Ho ; Kim, Tae-Hee ; Kim, Yeon-Suk ; Jang, Won-Cheoul ; Ryu, Aeli ; Hwang, Ji-Young ; Lee, Hae-Hyeog</creatorcontrib><description>Objective
Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relationship between MUC1 and MUC4 single-nucleotide polymorphisms (SNPs) and the risk for endometriosis.
Methods
We performed a case–controlled study of 29 endometriosis clinical samples and 27 functional cysts as control. Sixteen SNPs (rs145224844, rs139620330, rs144273480, rs1611770, rs146141676, rs201798179, rs201815857, rs199840128, rs200788986, rs141460657, rs183700327, rs199768496, rs191544901, rs200639498, rs148332231, and rs11465209) of MUC1 gene and eight SNPs (rs1104760, rs1106502, rs882605, rs2291651, rs2291652, rs2291653, rs2291654, and rs375068067) of the MUC4 gene were identified. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.
Results
The single mutation analysis of MUC4 showed that MUC4 mutations had no effect on the risk for endometriosis, but the frequencies of haplotypes [T/T + T/T + C/C] (rs2291653, 2291654 and rs375068067) were associated with endometriosis.
Conclusion
The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women.</description><identifier>ISSN: 0932-0067</identifier><identifier>EISSN: 1432-0711</identifier><identifier>DOI: 10.1007/s00404-019-05409-0</identifier><identifier>PMID: 31858233</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; Case-Control Studies ; Cysts ; Deoxyribonucleic acid ; DNA ; Endocrinology ; Endometriosis ; Endometriosis - genetics ; Ethanol ; Female ; Genes ; Gynecologic Endocrinology and Reproductive Medicine ; Gynecology ; Hospitals ; Human Genetics ; Humans ; Life Sciences & Biomedicine ; Medicine ; Medicine & Public Health ; Middle Aged ; Mucins - genetics ; Mutation ; Obstetrics ; Obstetrics & Gynecology ; Obstetrics/Perinatology/Midwifery ; Ovarian cancer ; Polymerase chain reaction ; Polymorphism ; Polymorphism, Genetic - genetics ; Polymorphism, Single Nucleotide - genetics ; Protein expression ; Proteins ; Republic of Korea ; Science & Technology ; Studies ; Womens health</subject><ispartof>Archives of gynecology and obstetrics, 2020-03, Vol.301 (3), p.801-807</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2019</rights><rights>Archives of Gynecology and Obstetrics is a copyright of Springer, (2019). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>5</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000518729100021</woscitedreferencesoriginalsourcerecordid><citedby>FETCH-LOGICAL-c375t-6f9c53584fb6fc8a6c49b426fc51d3ade46d7523e80b4132cd7de75f36d2db563</citedby><cites>FETCH-LOGICAL-c375t-6f9c53584fb6fc8a6c49b426fc51d3ade46d7523e80b4132cd7de75f36d2db563</cites><orcidid>0000-0003-4876-2912 ; 0000-0002-9060-5251 ; 0000-0001-8044-1989</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00404-019-05409-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00404-019-05409-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,28253,41493,42562,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31858233$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, Jin-Ho</creatorcontrib><creatorcontrib>Kim, Tae-Hee</creatorcontrib><creatorcontrib>Kim, Yeon-Suk</creatorcontrib><creatorcontrib>Jang, Won-Cheoul</creatorcontrib><creatorcontrib>Ryu, Aeli</creatorcontrib><creatorcontrib>Hwang, Ji-Young</creatorcontrib><creatorcontrib>Lee, Hae-Hyeog</creatorcontrib><title>Mucin gene polymorphisms are associated with endometriosis in Korean women</title><title>Archives of gynecology and obstetrics</title><addtitle>Arch Gynecol Obstet</addtitle><addtitle>ARCH GYNECOL OBSTET</addtitle><addtitle>Arch Gynecol Obstet</addtitle><description>Objective
Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relationship between MUC1 and MUC4 single-nucleotide polymorphisms (SNPs) and the risk for endometriosis.
Methods
We performed a case–controlled study of 29 endometriosis clinical samples and 27 functional cysts as control. Sixteen SNPs (rs145224844, rs139620330, rs144273480, rs1611770, rs146141676, rs201798179, rs201815857, rs199840128, rs200788986, rs141460657, rs183700327, rs199768496, rs191544901, rs200639498, rs148332231, and rs11465209) of MUC1 gene and eight SNPs (rs1104760, rs1106502, rs882605, rs2291651, rs2291652, rs2291653, rs2291654, and rs375068067) of the MUC4 gene were identified. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.
Results
The single mutation analysis of MUC4 showed that MUC4 mutations had no effect on the risk for endometriosis, but the frequencies of haplotypes [T/T + T/T + C/C] (rs2291653, 2291654 and rs375068067) were associated with endometriosis.
Conclusion
The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women.</description><subject>Adult</subject><subject>Case-Control Studies</subject><subject>Cysts</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Endocrinology</subject><subject>Endometriosis</subject><subject>Endometriosis - genetics</subject><subject>Ethanol</subject><subject>Female</subject><subject>Genes</subject><subject>Gynecologic Endocrinology and Reproductive Medicine</subject><subject>Gynecology</subject><subject>Hospitals</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Life Sciences & Biomedicine</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mucins - genetics</subject><subject>Mutation</subject><subject>Obstetrics</subject><subject>Obstetrics & Gynecology</subject><subject>Obstetrics/Perinatology/Midwifery</subject><subject>Ovarian cancer</subject><subject>Polymerase chain reaction</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Protein expression</subject><subject>Proteins</subject><subject>Republic of Korea</subject><subject>Science & Technology</subject><subject>Studies</subject><subject>Womens health</subject><issn>0932-0067</issn><issn>1432-0711</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>AOWDO</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkE1rFTEUhoNY7G31D7iQATdCGXvyNcks5eJ3ixtdh0xypk25k1yTGS7996adWsGFuEkO4XlfTh5CXlJ4SwHUeQEQIFqgfQtSQD2fkA0VnLWgKH1KNtDfzdCpY3JSyg0AZVp3z8gxp1pqxvmGfLlcXIjNFUZs9ml3O6W8vw5lKo3N2NhSkgt2Rt8cwnzdYPRpwjmHVEJpau5rymhjc6iv8Tk5Gu2u4IuH-5T8-PD--_ZTe_Ht4-ftu4vWcSXntht7J7nUYhy60WnbOdEPgtVZUs-tR9F5JRlHDYOgnDmvPCo58s4zP8iOn5I3a-8-p58LltlMoTjc7WzEtBTDOOsV77VgFX39F3qTlhzrdpVSXIjqSVeKrZTLqZSMo9nnMNl8ayiYO9NmNW2qaXNv2kANvXqoXoYJ_WPkt9oKnK3AAYc0FhcwOnzEAEBSrVhf-4HRSuv_p7dhtnNIcZuWONcoX6Ol4vEK859P_mP_X2eSqWg</recordid><startdate>20200301</startdate><enddate>20200301</enddate><creator>Kim, Jin-Ho</creator><creator>Kim, Tae-Hee</creator><creator>Kim, Yeon-Suk</creator><creator>Jang, Won-Cheoul</creator><creator>Ryu, Aeli</creator><creator>Hwang, Ji-Young</creator><creator>Lee, Hae-Hyeog</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature</general><general>Springer Nature B.V</general><scope>AOWDO</scope><scope>BLEPL</scope><scope>DTL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4876-2912</orcidid><orcidid>https://orcid.org/0000-0002-9060-5251</orcidid><orcidid>https://orcid.org/0000-0001-8044-1989</orcidid></search><sort><creationdate>20200301</creationdate><title>Mucin gene polymorphisms are associated with endometriosis in Korean women</title><author>Kim, Jin-Ho ; Kim, Tae-Hee ; Kim, Yeon-Suk ; Jang, Won-Cheoul ; Ryu, Aeli ; Hwang, Ji-Young ; Lee, Hae-Hyeog</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-6f9c53584fb6fc8a6c49b426fc51d3ade46d7523e80b4132cd7de75f36d2db563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adult</topic><topic>Case-Control Studies</topic><topic>Cysts</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Endocrinology</topic><topic>Endometriosis</topic><topic>Endometriosis - genetics</topic><topic>Ethanol</topic><topic>Female</topic><topic>Genes</topic><topic>Gynecologic Endocrinology and Reproductive Medicine</topic><topic>Gynecology</topic><topic>Hospitals</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Life Sciences & Biomedicine</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mucins - genetics</topic><topic>Mutation</topic><topic>Obstetrics</topic><topic>Obstetrics & Gynecology</topic><topic>Obstetrics/Perinatology/Midwifery</topic><topic>Ovarian cancer</topic><topic>Polymerase chain reaction</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Protein expression</topic><topic>Proteins</topic><topic>Republic of Korea</topic><topic>Science & Technology</topic><topic>Studies</topic><topic>Womens health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, Jin-Ho</creatorcontrib><creatorcontrib>Kim, Tae-Hee</creatorcontrib><creatorcontrib>Kim, Yeon-Suk</creatorcontrib><creatorcontrib>Jang, Won-Cheoul</creatorcontrib><creatorcontrib>Ryu, Aeli</creatorcontrib><creatorcontrib>Hwang, Ji-Young</creatorcontrib><creatorcontrib>Lee, Hae-Hyeog</creatorcontrib><collection>Web of Science - Science Citation Index Expanded - 2020</collection><collection>Web of Science Core Collection</collection><collection>Science Citation Index Expanded</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Archives of gynecology and obstetrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, Jin-Ho</au><au>Kim, Tae-Hee</au><au>Kim, Yeon-Suk</au><au>Jang, Won-Cheoul</au><au>Ryu, Aeli</au><au>Hwang, Ji-Young</au><au>Lee, Hae-Hyeog</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mucin gene polymorphisms are associated with endometriosis in Korean women</atitle><jtitle>Archives of gynecology and obstetrics</jtitle><stitle>Arch Gynecol Obstet</stitle><stitle>ARCH GYNECOL OBSTET</stitle><addtitle>Arch Gynecol Obstet</addtitle><date>2020-03-01</date><risdate>2020</risdate><volume>301</volume><issue>3</issue><spage>801</spage><epage>807</epage><pages>801-807</pages><issn>0932-0067</issn><eissn>1432-0711</eissn><abstract>Objective
Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relationship between MUC1 and MUC4 single-nucleotide polymorphisms (SNPs) and the risk for endometriosis.
Methods
We performed a case–controlled study of 29 endometriosis clinical samples and 27 functional cysts as control. Sixteen SNPs (rs145224844, rs139620330, rs144273480, rs1611770, rs146141676, rs201798179, rs201815857, rs199840128, rs200788986, rs141460657, rs183700327, rs199768496, rs191544901, rs200639498, rs148332231, and rs11465209) of MUC1 gene and eight SNPs (rs1104760, rs1106502, rs882605, rs2291651, rs2291652, rs2291653, rs2291654, and rs375068067) of the MUC4 gene were identified. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.
Results
The single mutation analysis of MUC4 showed that MUC4 mutations had no effect on the risk for endometriosis, but the frequencies of haplotypes [T/T + T/T + C/C] (rs2291653, 2291654 and rs375068067) were associated with endometriosis.
Conclusion
The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>31858233</pmid><doi>10.1007/s00404-019-05409-0</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-4876-2912</orcidid><orcidid>https://orcid.org/0000-0002-9060-5251</orcidid><orcidid>https://orcid.org/0000-0001-8044-1989</orcidid></addata></record> |
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| subjects | Adult Case-Control Studies Cysts Deoxyribonucleic acid DNA Endocrinology Endometriosis Endometriosis - genetics Ethanol Female Genes Gynecologic Endocrinology and Reproductive Medicine Gynecology Hospitals Human Genetics Humans Life Sciences & Biomedicine Medicine Medicine & Public Health Middle Aged Mucins - genetics Mutation Obstetrics Obstetrics & Gynecology Obstetrics/Perinatology/Midwifery Ovarian cancer Polymerase chain reaction Polymorphism Polymorphism, Genetic - genetics Polymorphism, Single Nucleotide - genetics Protein expression Proteins Republic of Korea Science & Technology Studies Womens health |
| title | Mucin gene polymorphisms are associated with endometriosis in Korean women |
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