{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360861714465713152.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1530/erc-15-0319"}},{"identifier":{"@type":"URI","@value":"https://erc.bioscientifica.com/view/journals/erc/22/5/851.xml"}},{"identifier":{"@type":"URI","@value":"https://erc.bioscientifica.com/downloadpdf/journals/erc/22/5/851.xml"}}],"dc:title":[{"@value":"Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>Excessive exposure to estrogen is a well-established risk factor for endometrial cancer (EC), particularly for cancers of endometrioid histology. The physiological function of estrogen is primarily mediated by estrogen receptor alpha, encoded by<jats:italic>ESR1</jats:italic>. Consequently, several studies have investigated whether variation at the<jats:italic>ESR1</jats:italic>locus is associated with risk of EC, with conflicting results. We performed comprehensive fine-mapping analyses of 3633 genotyped and imputed single nucleotide polymorphisms (SNPs) in 6607 EC cases and 37 925 controls. There was evidence of an EC risk signal located at a potential alternative promoter of the<jats:italic>ESR1</jats:italic>gene (lead SNP rs79575945,<jats:italic>P</jats:italic>=1.86×10<jats:sup>−5</jats:sup>), which was stronger for cancers of endometrioid subtype (<jats:italic>P</jats:italic>=3.76×10<jats:sup>−6</jats:sup>). Bioinformatic analysis suggests that this risk signal is in a functionally important region targeting<jats:italic>ESR1</jats:italic>, and eQTL analysis found that rs79575945 was associated with expression of<jats:italic>SYNE1</jats:italic>, a neighbouring gene. In summary, we have identified a single EC risk signal located at<jats:italic>ESR1</jats:italic>, at study-wide significance. Given SNPs located at this locus have been associated with risk for breast cancer, also a hormonally driven cancer, this study adds weight to the rationale for performing informed candidate fine-scale genetic studies across cancer types.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380861714465713171","@type":"Researcher","foaf:name":[{"@value":"Tracy A O'Mara"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713180","@type":"Researcher","foaf:name":[{"@value":"Dylan M Glubb"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713056","@type":"Researcher","foaf:name":[{"@value":"Jodie N Painter"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713152","@type":"Researcher","foaf:name":[{"@value":"Timothy Cheng"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713179","@type":"Researcher","foaf:name":[{"@value":"Joe Dennis"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713153","@type":"Researcher","foaf:name":[{"@value":"_ _"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713185","@type":"Researcher","foaf:name":[{"@value":"John Attia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713156","@type":"Researcher","foaf:name":[{"@value":"Elizabeth G Holliday"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713181","@type":"Researcher","foaf:name":[{"@value":"Mark McEvoy"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713186","@type":"Researcher","foaf:name":[{"@value":"Rodney J Scott"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713162","@type":"Researcher","foaf:name":[{"@value":"Katie Ashton"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713166","@type":"Researcher","foaf:name":[{"@value":"Tony Proietto"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713182","@type":"Researcher","foaf:name":[{"@value":"Geoffrey Otton"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713027","@type":"Researcher","foaf:name":[{"@value":"Mitul Shah"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713040","@type":"Researcher","foaf:name":[{"@value":"Shahana Ahmed"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713167","@type":"Researcher","foaf:name":[{"@value":"Catherine S Healey"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713031","@type":"Researcher","foaf:name":[{"@value":"Maggie Gorman"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713033","@type":"Researcher","foaf:name":[{"@value":"Lynn Martin"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713168","@type":"Researcher","foaf:name":[{"@value":"Shirley Hodgson"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713172","@type":"Researcher","foaf:name":[{"@value":"Peter A Fasching"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713039","@type":"Researcher","foaf:name":[{"@value":"Alexander Hein"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713028","@type":"Researcher","foaf:name":[{"@value":"Matthias W 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Hillemanns"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713032","@type":"Researcher","foaf:name":[{"@value":"Thilo Dörk"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713183","@type":"Researcher","foaf:name":[{"@value":"Diether Lambrechts"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713161","@type":"Researcher","foaf:name":[{"@value":"Jeroen Depreeuw"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713177","@type":"Researcher","foaf:name":[{"@value":"Daniela Annibali"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713045","@type":"Researcher","foaf:name":[{"@value":"Frederic Amant"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713034","@type":"Researcher","foaf:name":[{"@value":"Hui Zhao"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713030","@type":"Researcher","foaf:name":[{"@value":"Ellen L Goode"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713157","@type":"Researcher","foaf:name":[{"@value":"Sean C 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Swerdlow"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713049","@type":"Researcher","foaf:name":[{"@value":"Barbara Burwinkel"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713025","@type":"Researcher","foaf:name":[{"@value":"Hermann Brenner"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713041","@type":"Researcher","foaf:name":[{"@value":"Alfons Meindl"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713026","@type":"Researcher","foaf:name":[{"@value":"Hiltrud Brauch"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713029","@type":"Researcher","foaf:name":[{"@value":"Annika Lindblom"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713176","@type":"Researcher","foaf:name":[{"@value":"Jenny Chang-Claude"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713187","@type":"Researcher","foaf:name":[{"@value":"Fergus J Couch"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713051","@type":"Researcher","foaf:name":[{"@value":"Graham G Giles"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713165","@type":"Researcher","foaf:name":[{"@value":"Vessela N Kristensen"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713035","@type":"Researcher","foaf:name":[{"@value":"Angela Cox"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713159","@type":"Researcher","foaf:name":[{"@value":"Paul D P Pharoah"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713024","@type":"Researcher","foaf:name":[{"@value":"Alison M Dunning"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713044","@type":"Researcher","foaf:name":[{"@value":"Ian Tomlinson"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713054","@type":"Researcher","foaf:name":[{"@value":"Douglas F Easton"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713037","@type":"Researcher","foaf:name":[{"@value":"Deborah J Thompson"}]},{"@id":"https://cir.nii.ac.jp/crid/1380861714465713188","@type":"Researcher","foaf:name":[{"@value":"Amanda B Spurdle"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"13510088"},{"@type":"EISSN","@value":"14796821"}],"prism:publicationName":[{"@value":"Endocrine-Related Cancer"}],"dc:publisher":[{"@value":"Bioscientifica"}],"prism:publicationDate":"2015-10","prism:volume":"22","prism:number":"5","prism:startingPage":"851","prism:endingPage":"861"},"reviewed":"false","url":[{"@id":"https://erc.bioscientifica.com/view/journals/erc/22/5/851.xml"},{"@id":"https://erc.bioscientifica.com/downloadpdf/journals/erc/22/5/851.xml"}],"createdAt":"2015-09-02","modifiedAt":"2023-02-16","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360017279854556928","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Novel estrogen-responsive genes (ERGs) for the evaluation of estrogenic activity"}]},{"@id":"https://cir.nii.ac.jp/crid/1360298757184896256","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1530/erc-15-0319"},{"@type":"CROSSREF","@value":"10.1371/journal.pone.0273164_references_DOI_K9LHrKBYiKCWSuG8iA1iS32oH1a"},{"@type":"CROSSREF","@value":"10.1038/s41588-023-01323-z_references_DOI_K9LHrKBYiKCWSuG8iA1iS32oH1a"}]}