Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample
BACKGROUND Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis. METHODS We examined the association between endometriosis...
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| Veröffentlicht in: | Human reproduction (Oxford) 2007-09, Vol.22 (9), p.2389-2397 |
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| creator | Zhao, Zhen Zhen Nyholt, Dale R. Le, Lien Thomas, Shane Engwerda, Christian Randall, Louise Treloar, Susan A. Montgomery, Grant W. |
| description | BACKGROUND Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis. METHODS We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r2 = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer. RESULTS Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case–control study. CONCLUSIONS Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis. |
| doi_str_mv | 10.1093/humrep/dem182 |
| format | Article |
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Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis. METHODS We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r2 = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer. RESULTS Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case–control study. CONCLUSIONS Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis.</description><identifier>ISSN: 0268-1161</identifier><identifier>EISSN: 1460-2350</identifier><identifier>DOI: 10.1093/humrep/dem182</identifier><identifier>PMID: 17595314</identifier><identifier>CODEN: HUREEE</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Australia ; Base Sequence ; Biological and medical sciences ; Endometriosis ; Endometriosis - genetics ; Female ; Gene Frequency ; Gynecology. Andrology. Obstetrics ; haplotype ; Humans ; lymphotoxin alpha ; Lymphotoxin-alpha - genetics ; Medical sciences ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; single-nucleotide polymorphism ; Tumor Necrosis Factor-alpha - genetics ; tumour necrosis factor</subject><ispartof>Human reproduction (Oxford), 2007-09, Vol.22 (9), p.2389-2397</ispartof><rights>The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2007</rights><rights>2007 INIST-CNRS</rights><rights>The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c515t-b08c322104f3af8e7b589330e017201a309dec824924a0551d03eb902cc2abc03</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1583,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19070759$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17595314$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhao, Zhen Zhen</creatorcontrib><creatorcontrib>Nyholt, Dale R.</creatorcontrib><creatorcontrib>Le, Lien</creatorcontrib><creatorcontrib>Thomas, Shane</creatorcontrib><creatorcontrib>Engwerda, Christian</creatorcontrib><creatorcontrib>Randall, Louise</creatorcontrib><creatorcontrib>Treloar, Susan A.</creatorcontrib><creatorcontrib>Montgomery, Grant W.</creatorcontrib><title>Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample</title><title>Human reproduction (Oxford)</title><addtitle>Hum Reprod</addtitle><description>BACKGROUND Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis. METHODS We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r2 = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer. RESULTS Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case–control study. CONCLUSIONS Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis.</description><subject>Australia</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Endometriosis</subject><subject>Endometriosis - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>haplotype</subject><subject>Humans</subject><subject>lymphotoxin alpha</subject><subject>Lymphotoxin-alpha - genetics</subject><subject>Medical sciences</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Promoter Regions, Genetic</subject><subject>single-nucleotide polymorphism</subject><subject>Tumor Necrosis Factor-alpha - genetics</subject><subject>tumour necrosis factor</subject><issn>0268-1161</issn><issn>1460-2350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0ctrFTEUB-Agir1Wl24lCBU3Y0-SeWVZSh9CxYVXEDchN3OGmzqTjElGb_97U2ew4KarHMh38jg_Ql4z-MBAitP9PAacTjscWcufkA0rayi4qOAp2QCv24Kxmh2RFzHeAuSyrZ-TI9ZUshKs3JDDFTpM1tBfOlidrHfUOprm0c-BOjTBRxtpr03ygWrX0eFunPY--UNmecf5RHWM3uRm7Ohvm_YUXedHTMH-7c1OO3o2xxT0YHMZ9TgN-JI86_UQ8dW6HpOvlxfb8-vi5vPVx_Ozm8JUrErFDlojOGdQ9kL3LTa7qpVCAAJrODAtQHZoWl5KXmqoKtaBwJ0EbgzXOwPimLxbzp2C_zljTGq00eAwaId-jqpuWVsKaB-FHEpZSikzfPsfvM3DcvkTirM836zqjIoF3U8wBuzVFOyow51ioO6DU0twagku-zfrofNuxO5Br0llcLICHY0e-qCdsfHBSWgg2-zeL87P06N3rm-0MeHhH9bhh6ob0VTq-tt3ta35F_5pW6pa_AHhUMDV</recordid><startdate>20070901</startdate><enddate>20070901</enddate><creator>Zhao, Zhen Zhen</creator><creator>Nyholt, Dale R.</creator><creator>Le, Lien</creator><creator>Thomas, Shane</creator><creator>Engwerda, Christian</creator><creator>Randall, Louise</creator><creator>Treloar, Susan A.</creator><creator>Montgomery, Grant W.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</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>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7T5</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>20070901</creationdate><title>Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample</title><author>Zhao, Zhen Zhen ; Nyholt, Dale R. ; Le, Lien ; Thomas, Shane ; Engwerda, Christian ; Randall, Louise ; Treloar, Susan A. ; Montgomery, Grant W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c515t-b08c322104f3af8e7b589330e017201a309dec824924a0551d03eb902cc2abc03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Australia</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Endometriosis</topic><topic>Endometriosis - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>haplotype</topic><topic>Humans</topic><topic>lymphotoxin alpha</topic><topic>Lymphotoxin-alpha - genetics</topic><topic>Medical sciences</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Promoter Regions, Genetic</topic><topic>single-nucleotide polymorphism</topic><topic>Tumor Necrosis Factor-alpha - genetics</topic><topic>tumour necrosis factor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhao, Zhen Zhen</creatorcontrib><creatorcontrib>Nyholt, Dale R.</creatorcontrib><creatorcontrib>Le, Lien</creatorcontrib><creatorcontrib>Thomas, Shane</creatorcontrib><creatorcontrib>Engwerda, Christian</creatorcontrib><creatorcontrib>Randall, Louise</creatorcontrib><creatorcontrib>Treloar, Susan A.</creatorcontrib><creatorcontrib>Montgomery, Grant W.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human reproduction (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhao, Zhen Zhen</au><au>Nyholt, Dale R.</au><au>Le, Lien</au><au>Thomas, Shane</au><au>Engwerda, Christian</au><au>Randall, Louise</au><au>Treloar, Susan A.</au><au>Montgomery, Grant W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample</atitle><jtitle>Human reproduction (Oxford)</jtitle><addtitle>Hum Reprod</addtitle><date>2007-09-01</date><risdate>2007</risdate><volume>22</volume><issue>9</issue><spage>2389</spage><epage>2397</epage><pages>2389-2397</pages><issn>0268-1161</issn><eissn>1460-2350</eissn><coden>HUREEE</coden><abstract>BACKGROUND Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis. METHODS We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r2 = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer. RESULTS Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case–control study. CONCLUSIONS Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>17595314</pmid><doi>10.1093/humrep/dem182</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Australia Base Sequence Biological and medical sciences Endometriosis Endometriosis - genetics Female Gene Frequency Gynecology. Andrology. Obstetrics haplotype Humans lymphotoxin alpha Lymphotoxin-alpha - genetics Medical sciences Polymorphism, Single Nucleotide Promoter Regions, Genetic single-nucleotide polymorphism Tumor Necrosis Factor-alpha - genetics tumour necrosis factor |
| title | Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample |
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