Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis
Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15. Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) i...
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| Veröffentlicht in: | Nature genetics 2011-01, Vol.43 (1), p.51-54 |
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| creator | Painter, Jodie N Anderson, Carl A Nyholt, Dale R Macgregor, Stuart Lin, Jianghai Lee, Sang Hong Lambert, Ann Zhao, Zhen Z Roseman, Fenella Guo, Qun Gordon, Scott D Wallace, Leanne Henders, Anjali K Visscher, Peter M Kraft, Peter Martin, Nicholas G Morris, Andrew P Treloar, Susan A Kennedy, Stephen H Missmer, Stacey A Montgomery, Grant W Zondervan, Krina T |
| description | Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15.
Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (
P
= 2.6 × 10
−7
, odds ratio (OR) = 1.22, 95% CI 1.13–1.32) and for moderate to severe disease (
P
= 1.5 × 10
−9
, OR = 1.38, 95% CI 1.24–1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (
P
= 1.2 × 10
−3
, OR = 1.17, 95% CI 1.06–1.28), resulting in a genome-wide significant
P
value of 1.4 × 10
−9
(OR = 1.20, 95% CI 1.13–1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes
NFE2L3
and
HOXA10. |
| doi_str_mv | 10.1038/ng.731 |
| format | Article |
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Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (
P
= 2.6 × 10
−7
, odds ratio (OR) = 1.22, 95% CI 1.13–1.32) and for moderate to severe disease (
P
= 1.5 × 10
−9
, OR = 1.38, 95% CI 1.24–1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (
P
= 1.2 × 10
−3
, OR = 1.17, 95% CI 1.06–1.28), resulting in a genome-wide significant
P
value of 1.4 × 10
−9
(OR = 1.20, 95% CI 1.13–1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes
NFE2L3
and
HOXA10.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng.731</identifier><identifier>PMID: 21151130</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/208/205/2138 ; 631/208/2489/144 ; 631/208/457/649 ; 692/699/2768 ; Agriculture ; Animal Genetics and Genomics ; Australia ; Basic-Leucine Zipper Transcription Factors - genetics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedical research ; Biomedicine ; Cancer Research ; Chromosomes, Human, Pair 15 - genetics ; Cohort Studies ; Data collection ; Endometriosis ; Endometriosis - genetics ; Female ; Female genital diseases ; Fundamental and applied biological sciences. Psychology ; Gene Function ; Genetic Loci ; Genetic Predisposition to Disease ; Genetics of eukaryotes. Biological and molecular evolution ; Genome, Human - genetics ; Genome-Wide Association Study ; Gynecology. Andrology. Obstetrics ; Homeobox A10 Proteins ; Homeodomain Proteins - genetics ; Human Genetics ; Humans ; letter ; Medical sciences ; Non tumoral diseases ; Odds Ratio ; Quantitative genetics ; Regression analysis ; Risk Factors ; United Kingdom ; United States ; Validation studies</subject><ispartof>Nature genetics, 2011-01, Vol.43 (1), p.51-54</ispartof><rights>Springer Nature America, Inc. 2010</rights><rights>2015 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Jan 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c486t-6af1ec32e7b0b9eacc68cb5468e6851693026f248cf893d6a5b2adfe0a5482f93</citedby><cites>FETCH-LOGICAL-c486t-6af1ec32e7b0b9eacc68cb5468e6851693026f248cf893d6a5b2adfe0a5482f93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng.731$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng.731$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23919049$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21151130$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Painter, Jodie N</creatorcontrib><creatorcontrib>Anderson, Carl A</creatorcontrib><creatorcontrib>Nyholt, Dale R</creatorcontrib><creatorcontrib>Macgregor, Stuart</creatorcontrib><creatorcontrib>Lin, Jianghai</creatorcontrib><creatorcontrib>Lee, Sang Hong</creatorcontrib><creatorcontrib>Lambert, Ann</creatorcontrib><creatorcontrib>Zhao, Zhen Z</creatorcontrib><creatorcontrib>Roseman, Fenella</creatorcontrib><creatorcontrib>Guo, Qun</creatorcontrib><creatorcontrib>Gordon, Scott D</creatorcontrib><creatorcontrib>Wallace, Leanne</creatorcontrib><creatorcontrib>Henders, Anjali K</creatorcontrib><creatorcontrib>Visscher, Peter M</creatorcontrib><creatorcontrib>Kraft, Peter</creatorcontrib><creatorcontrib>Martin, Nicholas G</creatorcontrib><creatorcontrib>Morris, Andrew P</creatorcontrib><creatorcontrib>Treloar, Susan A</creatorcontrib><creatorcontrib>Kennedy, Stephen H</creatorcontrib><creatorcontrib>Missmer, Stacey A</creatorcontrib><creatorcontrib>Montgomery, Grant W</creatorcontrib><creatorcontrib>Zondervan, Krina T</creatorcontrib><title>Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15.
Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (
P
= 2.6 × 10
−7
, odds ratio (OR) = 1.22, 95% CI 1.13–1.32) and for moderate to severe disease (
P
= 1.5 × 10
−9
, OR = 1.38, 95% CI 1.24–1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (
P
= 1.2 × 10
−3
, OR = 1.17, 95% CI 1.06–1.28), resulting in a genome-wide significant
P
value of 1.4 × 10
−9
(OR = 1.20, 95% CI 1.13–1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes
NFE2L3
and
HOXA10.</description><subject>631/208/205/2138</subject><subject>631/208/2489/144</subject><subject>631/208/457/649</subject><subject>692/699/2768</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Australia</subject><subject>Basic-Leucine Zipper Transcription Factors - genetics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedical research</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Chromosomes, Human, Pair 15 - genetics</subject><subject>Cohort Studies</subject><subject>Data collection</subject><subject>Endometriosis</subject><subject>Endometriosis - genetics</subject><subject>Female</subject><subject>Female genital diseases</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Function</subject><subject>Genetic Loci</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome, Human - genetics</subject><subject>Genome-Wide Association Study</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Homeobox A10 Proteins</subject><subject>Homeodomain Proteins - genetics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>letter</subject><subject>Medical sciences</subject><subject>Non tumoral diseases</subject><subject>Odds Ratio</subject><subject>Quantitative genetics</subject><subject>Regression analysis</subject><subject>Risk Factors</subject><subject>United Kingdom</subject><subject>United States</subject><subject>Validation studies</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkdFrFDEQxoMotj31T5BFsD7tmUmy2eRFkKJVKPii4FvIZifXlL3kTHYt_e-N9LzTvvg0Q-bHl--bIeQF0DVQrt7Gzbrn8IicQidkCz2ox7WnElpBuTwhZ6XcUApCUPWUnDCADoDTU_L9EmPaYnsbRmxsKckFO4cUmzIv411TX-McfMDS2GZKbql1bvoddGt2wHFsbsN83WAcq9ScQyqhPCNPvJ0KPt_XFfn28cPXi0_t1ZfLzxfvr1onlJxbaT2g4wz7gQ4arXNSuaFmUChVB1JzyqRnQjmvNB-l7QZmR4_UdkIxr_mKvLvX3S3DFkdX_WY7mV0OW5vvTLLB_DuJ4dps0k_DKWhgogq82Qvk9GPBMpttKA6nyUZMSzFKCt3xnnf_J3ldqqJ1sSvy6gF5k5Yc6x6MEj1nfQ1UofN7yOVUSkZ_MA3U_D6qiRtTj1rBl39HPGB_rliB13vAFmcnn210oRw5rkFToY8BSh3FDeajrQdf_gJHy7bY</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>Painter, Jodie N</creator><creator>Anderson, Carl A</creator><creator>Nyholt, Dale R</creator><creator>Macgregor, Stuart</creator><creator>Lin, Jianghai</creator><creator>Lee, Sang Hong</creator><creator>Lambert, Ann</creator><creator>Zhao, Zhen Z</creator><creator>Roseman, Fenella</creator><creator>Guo, Qun</creator><creator>Gordon, Scott D</creator><creator>Wallace, Leanne</creator><creator>Henders, Anjali K</creator><creator>Visscher, Peter M</creator><creator>Kraft, Peter</creator><creator>Martin, Nicholas G</creator><creator>Morris, Andrew P</creator><creator>Treloar, Susan A</creator><creator>Kennedy, Stephen H</creator><creator>Missmer, Stacey A</creator><creator>Montgomery, Grant W</creator><creator>Zondervan, Krina T</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><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>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20110101</creationdate><title>Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis</title><author>Painter, Jodie N ; Anderson, Carl A ; Nyholt, Dale R ; Macgregor, Stuart ; Lin, Jianghai ; Lee, Sang Hong ; Lambert, Ann ; Zhao, Zhen Z ; Roseman, Fenella ; Guo, Qun ; Gordon, Scott D ; Wallace, Leanne ; Henders, Anjali K ; Visscher, Peter M ; Kraft, Peter ; Martin, Nicholas G ; Morris, Andrew P ; Treloar, Susan A ; Kennedy, Stephen H ; Missmer, Stacey A ; Montgomery, Grant W ; Zondervan, Krina T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c486t-6af1ec32e7b0b9eacc68cb5468e6851693026f248cf893d6a5b2adfe0a5482f93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>631/208/205/2138</topic><topic>631/208/2489/144</topic><topic>631/208/457/649</topic><topic>692/699/2768</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Australia</topic><topic>Basic-Leucine Zipper Transcription Factors - genetics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedical research</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Chromosomes, Human, Pair 15 - genetics</topic><topic>Cohort Studies</topic><topic>Data collection</topic><topic>Endometriosis</topic><topic>Endometriosis - genetics</topic><topic>Female</topic><topic>Female genital diseases</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Function</topic><topic>Genetic Loci</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genome, Human - genetics</topic><topic>Genome-Wide Association Study</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Homeobox A10 Proteins</topic><topic>Homeodomain Proteins - genetics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>letter</topic><topic>Medical sciences</topic><topic>Non tumoral diseases</topic><topic>Odds Ratio</topic><topic>Quantitative genetics</topic><topic>Regression analysis</topic><topic>Risk Factors</topic><topic>United Kingdom</topic><topic>United States</topic><topic>Validation studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Painter, Jodie N</creatorcontrib><creatorcontrib>Anderson, Carl A</creatorcontrib><creatorcontrib>Nyholt, Dale R</creatorcontrib><creatorcontrib>Macgregor, Stuart</creatorcontrib><creatorcontrib>Lin, Jianghai</creatorcontrib><creatorcontrib>Lee, Sang Hong</creatorcontrib><creatorcontrib>Lambert, Ann</creatorcontrib><creatorcontrib>Zhao, Zhen Z</creatorcontrib><creatorcontrib>Roseman, Fenella</creatorcontrib><creatorcontrib>Guo, Qun</creatorcontrib><creatorcontrib>Gordon, Scott D</creatorcontrib><creatorcontrib>Wallace, Leanne</creatorcontrib><creatorcontrib>Henders, Anjali K</creatorcontrib><creatorcontrib>Visscher, Peter M</creatorcontrib><creatorcontrib>Kraft, Peter</creatorcontrib><creatorcontrib>Martin, Nicholas G</creatorcontrib><creatorcontrib>Morris, Andrew P</creatorcontrib><creatorcontrib>Treloar, Susan A</creatorcontrib><creatorcontrib>Kennedy, Stephen H</creatorcontrib><creatorcontrib>Missmer, Stacey A</creatorcontrib><creatorcontrib>Montgomery, Grant W</creatorcontrib><creatorcontrib>Zondervan, Krina T</creatorcontrib><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>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</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 Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Painter, Jodie N</au><au>Anderson, Carl A</au><au>Nyholt, Dale R</au><au>Macgregor, Stuart</au><au>Lin, Jianghai</au><au>Lee, Sang Hong</au><au>Lambert, Ann</au><au>Zhao, Zhen Z</au><au>Roseman, Fenella</au><au>Guo, Qun</au><au>Gordon, Scott D</au><au>Wallace, Leanne</au><au>Henders, Anjali K</au><au>Visscher, Peter M</au><au>Kraft, Peter</au><au>Martin, Nicholas G</au><au>Morris, Andrew P</au><au>Treloar, Susan A</au><au>Kennedy, Stephen H</au><au>Missmer, Stacey A</au><au>Montgomery, Grant W</au><au>Zondervan, Krina T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>43</volume><issue>1</issue><spage>51</spage><epage>54</epage><pages>51-54</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15.
Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (
P
= 2.6 × 10
−7
, odds ratio (OR) = 1.22, 95% CI 1.13–1.32) and for moderate to severe disease (
P
= 1.5 × 10
−9
, OR = 1.38, 95% CI 1.24–1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (
P
= 1.2 × 10
−3
, OR = 1.17, 95% CI 1.06–1.28), resulting in a genome-wide significant
P
value of 1.4 × 10
−9
(OR = 1.20, 95% CI 1.13–1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes
NFE2L3
and
HOXA10.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>21151130</pmid><doi>10.1038/ng.731</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Nature genetics, 2011-01, Vol.43 (1), p.51-54 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3019124 |
| source | MEDLINE; SpringerLink Journals; Nature Journals Online |
| subjects | 631/208/205/2138 631/208/2489/144 631/208/457/649 692/699/2768 Agriculture Animal Genetics and Genomics Australia Basic-Leucine Zipper Transcription Factors - genetics Biological and medical sciences Biomedical and Life Sciences Biomedical research Biomedicine Cancer Research Chromosomes, Human, Pair 15 - genetics Cohort Studies Data collection Endometriosis Endometriosis - genetics Female Female genital diseases Fundamental and applied biological sciences. Psychology Gene Function Genetic Loci Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome, Human - genetics Genome-Wide Association Study Gynecology. Andrology. Obstetrics Homeobox A10 Proteins Homeodomain Proteins - genetics Human Genetics Humans letter Medical sciences Non tumoral diseases Odds Ratio Quantitative genetics Regression analysis Risk Factors United Kingdom United States Validation studies |
| title | Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-27T05%3A37%3A12IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genome-wide%20association%20study%20identifies%20a%20locus%20at%207p15.2%20associated%20with%20endometriosis&rft.jtitle=Nature%20genetics&rft.au=Painter,%20Jodie%20N&rft.date=2011-01-01&rft.volume=43&rft.issue=1&rft.spage=51&rft.epage=54&rft.pages=51-54&rft.issn=1061-4036&rft.eissn=1546-1718&rft.coden=NGENEC&rft_id=info:doi/10.1038/ng.731&rft_dat=%3Cproquest_pubme%3E835118011%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=847327248&rft_id=info:pmid/21151130&rfr_iscdi=true |