The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility
Abstract Introduction An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many...
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| Veröffentlicht in: | Human immunology 2012-11, Vol.73 (11), p.1190-1193 |
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| creator | Bianco, Bianca Lerner, Tatiana G Trevisan, Camila Martins Cavalcanti, Viviane Christofolini, Denise M Barbosa, Caio P |
| description | Abstract Introduction An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many cell types involved in the development of endometriosis. We hypothesized a possible relationship between the NFKB1 promoter regulatory polymorphism and endometriosis and/or infertility. Methods A genetic association study comprising 172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls was performed. Detection of the −94 insertion/deletion ATTG (rs28362491) polymorphism in the NFKB1 gene was done using the RFLP–PCR (Restriction Fragment Length Polymorphism–Polymerase Chain Reaction) technique. The results were statistically analyzed, and a p -value |
| doi_str_mv | 10.1016/j.humimm.2012.08.008 |
| format | Article |
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Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many cell types involved in the development of endometriosis. We hypothesized a possible relationship between the NFKB1 promoter regulatory polymorphism and endometriosis and/or infertility. Methods A genetic association study comprising 172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls was performed. Detection of the −94 insertion/deletion ATTG (rs28362491) polymorphism in the NFKB1 gene was done using the RFLP–PCR (Restriction Fragment Length Polymorphism–Polymerase Chain Reaction) technique. The results were statistically analyzed, and a p -value <0.05 was considered significant. Results Single-marker analysis revealed a significant association between the −94 insertion/deletion ATTG polymorphism and endometriosis-related infertility ( p = 0.014, OR = 1.47, 95% CI = 1.09–1.97), especially in moderate/severe disease cases. Considering the idiopathic infertility group, a significant association was also found ( p = <0.001, OR = 2.01, 95% CI = 1.35–2.98), suggesting that the −94 insertion/deletion ATTG polymorphism is associated with endometriosis and/or infertility. Conclusion In the population sample studied, the −94 insertion/deletion ATTG polymorphism in the NFKB 1 gene was positively associated both with moderate/severe endometriosis and idiopathic infertility.</description><identifier>ISSN: 0198-8859</identifier><identifier>EISSN: 1879-1166</identifier><identifier>DOI: 10.1016/j.humimm.2012.08.008</identifier><identifier>PMID: 22902396</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Alleles ; Allergy and Immunology ; Endometriosis - genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infertility, Female - genetics ; NF-kappa B p50 Subunit - genetics ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic</subject><ispartof>Human immunology, 2012-11, Vol.73 (11), p.1190-1193</ispartof><rights>American Society for Histocompatibility and Immunogenetics</rights><rights>2012 American Society for Histocompatibility and Immunogenetics</rights><rights>Copyright © 2012 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-df490700c814c80a6cee5ecbd1c4bd86c60d17e289b957f7b7631cfb1d58a4893</citedby><cites>FETCH-LOGICAL-c417t-df490700c814c80a6cee5ecbd1c4bd86c60d17e289b957f7b7631cfb1d58a4893</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.humimm.2012.08.008$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22902396$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bianco, Bianca</creatorcontrib><creatorcontrib>Lerner, Tatiana G</creatorcontrib><creatorcontrib>Trevisan, Camila Martins</creatorcontrib><creatorcontrib>Cavalcanti, Viviane</creatorcontrib><creatorcontrib>Christofolini, Denise M</creatorcontrib><creatorcontrib>Barbosa, Caio P</creatorcontrib><title>The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility</title><title>Human immunology</title><addtitle>Hum Immunol</addtitle><description>Abstract Introduction An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many cell types involved in the development of endometriosis. We hypothesized a possible relationship between the NFKB1 promoter regulatory polymorphism and endometriosis and/or infertility. Methods A genetic association study comprising 172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls was performed. Detection of the −94 insertion/deletion ATTG (rs28362491) polymorphism in the NFKB1 gene was done using the RFLP–PCR (Restriction Fragment Length Polymorphism–Polymerase Chain Reaction) technique. The results were statistically analyzed, and a p -value <0.05 was considered significant. Results Single-marker analysis revealed a significant association between the −94 insertion/deletion ATTG polymorphism and endometriosis-related infertility ( p = 0.014, OR = 1.47, 95% CI = 1.09–1.97), especially in moderate/severe disease cases. Considering the idiopathic infertility group, a significant association was also found ( p = <0.001, OR = 2.01, 95% CI = 1.35–2.98), suggesting that the −94 insertion/deletion ATTG polymorphism is associated with endometriosis and/or infertility. Conclusion In the population sample studied, the −94 insertion/deletion ATTG polymorphism in the NFKB 1 gene was positively associated both with moderate/severe endometriosis and idiopathic infertility.</description><subject>Adult</subject><subject>Alleles</subject><subject>Allergy and Immunology</subject><subject>Endometriosis - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Infertility, Female - genetics</subject><subject>NF-kappa B p50 Subunit - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Promoter Regions, Genetic</subject><issn>0198-8859</issn><issn>1879-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU9v1DAQxS0EotvCN0DIRy5ZZrKJ41yQoAKKVIkD5Ww59oT1No4X2ynab4-jLRy4cJrDvDd_fo-xVwhbBBRvD9v94p332xqw3oLcAsgnbIOy6ytEIZ6yDWAvKynb_oJdpnQAgA665jm7qOse6l0vNuzH3Z74vJiJdOSjNjnE6v4DH5fZZBdmPfFjDD5kivwYppMP8bh3yXOXuE4pGKczWf7L5T2n2QZPObqQ1u5suZtHitlNLp9esGejnhK9fKxX7Punj3fXN9Xt189frt_fVqbBLld2bPpyJBiJjZGghSFqyQwWTTNYKYwAix3Vsh_6thu7oRM7NOOAtpW6kf3uir05zy1n_1woZeVdMjRNeqawJIWIjegFyrZIm7PUxJBSpFEdo_M6nhSCWhGrgzojVitiBVIVxMX2-nHDMniyf01_mBbBu7OAyp8PjqJKxtFsyLpIJisb3P82_DvATG52Rk_3dKJ0CEsswZRfVCoe9W2NeU0Za4AWW9j9BgNQpng</recordid><startdate>20121101</startdate><enddate>20121101</enddate><creator>Bianco, Bianca</creator><creator>Lerner, Tatiana G</creator><creator>Trevisan, Camila Martins</creator><creator>Cavalcanti, Viviane</creator><creator>Christofolini, Denise M</creator><creator>Barbosa, Caio P</creator><general>Elsevier Inc</general><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>7X8</scope></search><sort><creationdate>20121101</creationdate><title>The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility</title><author>Bianco, Bianca ; Lerner, Tatiana G ; Trevisan, Camila Martins ; Cavalcanti, Viviane ; Christofolini, Denise M ; Barbosa, Caio P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-df490700c814c80a6cee5ecbd1c4bd86c60d17e289b957f7b7631cfb1d58a4893</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Allergy and Immunology</topic><topic>Endometriosis - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Humans</topic><topic>Infertility, Female - genetics</topic><topic>NF-kappa B p50 Subunit - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Promoter Regions, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bianco, Bianca</creatorcontrib><creatorcontrib>Lerner, Tatiana G</creatorcontrib><creatorcontrib>Trevisan, Camila Martins</creatorcontrib><creatorcontrib>Cavalcanti, Viviane</creatorcontrib><creatorcontrib>Christofolini, Denise M</creatorcontrib><creatorcontrib>Barbosa, Caio P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Human immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bianco, Bianca</au><au>Lerner, Tatiana G</au><au>Trevisan, Camila Martins</au><au>Cavalcanti, Viviane</au><au>Christofolini, Denise M</au><au>Barbosa, Caio P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility</atitle><jtitle>Human immunology</jtitle><addtitle>Hum Immunol</addtitle><date>2012-11-01</date><risdate>2012</risdate><volume>73</volume><issue>11</issue><spage>1190</spage><epage>1193</epage><pages>1190-1193</pages><issn>0198-8859</issn><eissn>1879-1166</eissn><abstract>Abstract Introduction An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many cell types involved in the development of endometriosis. We hypothesized a possible relationship between the NFKB1 promoter regulatory polymorphism and endometriosis and/or infertility. Methods A genetic association study comprising 172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls was performed. Detection of the −94 insertion/deletion ATTG (rs28362491) polymorphism in the NFKB1 gene was done using the RFLP–PCR (Restriction Fragment Length Polymorphism–Polymerase Chain Reaction) technique. The results were statistically analyzed, and a p -value <0.05 was considered significant. Results Single-marker analysis revealed a significant association between the −94 insertion/deletion ATTG polymorphism and endometriosis-related infertility ( p = 0.014, OR = 1.47, 95% CI = 1.09–1.97), especially in moderate/severe disease cases. Considering the idiopathic infertility group, a significant association was also found ( p = <0.001, OR = 2.01, 95% CI = 1.35–2.98), suggesting that the −94 insertion/deletion ATTG polymorphism is associated with endometriosis and/or infertility. Conclusion In the population sample studied, the −94 insertion/deletion ATTG polymorphism in the NFKB 1 gene was positively associated both with moderate/severe endometriosis and idiopathic infertility.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>22902396</pmid><doi>10.1016/j.humimm.2012.08.008</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Alleles Allergy and Immunology Endometriosis - genetics Female Genetic Predisposition to Disease Genotype Humans Infertility, Female - genetics NF-kappa B p50 Subunit - genetics Polymorphism, Single Nucleotide Promoter Regions, Genetic |
| title | The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility |
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