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https://hdl.handle.net/1959.11/22042
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DC Field | Value | Language |
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dc.contributor.author | Painter, Jodie N | en |
dc.contributor.author | Anderson, Carl A | en |
dc.contributor.author | Gordon, Scott D | en |
dc.contributor.author | Wallace, Leanne | en |
dc.contributor.author | Henders, Anjali K | en |
dc.contributor.author | Visscher, Peter M | en |
dc.contributor.author | Kraft, Peter | en |
dc.contributor.author | Martin, Nicholas G | en |
dc.contributor.author | Morris, Andrew P | en |
dc.contributor.author | Treloar, Susan A | en |
dc.contributor.author | Kennedy, Stephen H | en |
dc.contributor.author | Missmer, Stacey A | en |
dc.contributor.author | Nyholt, Dale R | en |
dc.contributor.author | Montgomery, Grant W | en |
dc.contributor.author | Zondervan, Krina T | en |
dc.contributor.author | Macgregor, Stuart | en |
dc.contributor.author | Lin, Jianghai | en |
dc.contributor.author | Lee, Sang Hong | en |
dc.contributor.author | Lambert, Ann | en |
dc.contributor.author | Zhao, Zhen Z | en |
dc.contributor.author | Roseman, Fenella | en |
dc.contributor.author | Guo, Qun | en |
dc.date.accessioned | 2017-10-27T10:32:00Z | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | Nature Genetics, 43(1), p. 51-54 | en |
dc.identifier.issn | 1546-1718 | en |
dc.identifier.issn | 1061-4036 | en |
dc.identifier.uri | https://hdl.handle.net/1959.11/22042 | - |
dc.description.abstract | 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 x 10-7, odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 x 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 x 10-3, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 x 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. | en |
dc.language | en | en |
dc.publisher | Nature Publishing Group | en |
dc.relation.ispartof | Nature Genetics | en |
dc.title | Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis | en |
dc.type | Journal Article | en |
dc.identifier.doi | 10.1038/ng.731 | en |
dcterms.accessRights | Green | en |
dc.subject.keywords | Gene Expression (incl. Microarray and other genome-wide approaches) | en |
local.contributor.firstname | Jodie N | en |
local.contributor.firstname | Carl A | en |
local.contributor.firstname | Scott D | en |
local.contributor.firstname | Leanne | en |
local.contributor.firstname | Anjali K | en |
local.contributor.firstname | Peter M | en |
local.contributor.firstname | Peter | en |
local.contributor.firstname | Nicholas G | en |
local.contributor.firstname | Andrew P | en |
local.contributor.firstname | Susan A | en |
local.contributor.firstname | Stephen H | en |
local.contributor.firstname | Stacey A | en |
local.contributor.firstname | Dale R | en |
local.contributor.firstname | Grant W | en |
local.contributor.firstname | Krina T | en |
local.contributor.firstname | Stuart | en |
local.contributor.firstname | Jianghai | en |
local.contributor.firstname | Sang Hong | en |
local.contributor.firstname | Ann | en |
local.contributor.firstname | Zhen Z | en |
local.contributor.firstname | Fenella | en |
local.contributor.firstname | Qun | en |
local.subject.for2008 | 060405 Gene Expression (incl. Microarray and other genome-wide approaches) | en |
local.subject.seo2008 | 920110 Inherited Diseases (incl. Gene Therapy) | en |
local.profile.school | School of Environmental and Rural Science | en |
local.profile.email | slee38@une.edu.au | en |
local.output.category | C1 | en |
local.record.place | au | en |
local.record.institution | University of New England | en |
local.identifier.epublicationsrecord | une-20171024-182910 | en |
local.publisher.place | United States of America | en |
local.format.startpage | 51 | en |
local.format.endpage | 54 | en |
local.url.open | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019124/ | en |
local.peerreviewed | Yes | en |
local.identifier.volume | 43 | en |
local.identifier.issue | 1 | en |
local.access.fulltext | Yes | en |
local.contributor.lastname | Painter | en |
local.contributor.lastname | Anderson | en |
local.contributor.lastname | Gordon | en |
local.contributor.lastname | Wallace | en |
local.contributor.lastname | Henders | en |
local.contributor.lastname | Visscher | en |
local.contributor.lastname | Kraft | en |
local.contributor.lastname | Martin | en |
local.contributor.lastname | Morris | en |
local.contributor.lastname | Treloar | en |
local.contributor.lastname | Kennedy | en |
local.contributor.lastname | Missmer | en |
local.contributor.lastname | Nyholt | en |
local.contributor.lastname | Montgomery | en |
local.contributor.lastname | Zondervan | en |
local.contributor.lastname | Macgregor | en |
local.contributor.lastname | Lin | en |
local.contributor.lastname | Lee | en |
local.contributor.lastname | Lambert | en |
local.contributor.lastname | Zhao | en |
local.contributor.lastname | Roseman | en |
local.contributor.lastname | Guo | en |
dc.identifier.staff | une-id:slee38 | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.profile.role | author | en |
local.identifier.unepublicationid | une:22232 | en |
local.identifier.handle | https://hdl.handle.net/1959.11/22042 | en |
dc.identifier.academiclevel | Academic | en |
local.title.maintitle | Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis | en |
local.output.categorydescription | C1 Refereed Article in a Scholarly Journal | en |
local.search.author | Painter, Jodie N | en |
local.search.author | Anderson, Carl A | en |
local.search.author | Gordon, Scott D | en |
local.search.author | Wallace, Leanne | en |
local.search.author | Henders, Anjali K | en |
local.search.author | Visscher, Peter M | en |
local.search.author | Kraft, Peter | en |
local.search.author | Martin, Nicholas G | en |
local.search.author | Morris, Andrew P | en |
local.search.author | Treloar, Susan A | en |
local.search.author | Kennedy, Stephen H | en |
local.search.author | Missmer, Stacey A | en |
local.search.author | Nyholt, Dale R | en |
local.search.author | Montgomery, Grant W | en |
local.search.author | Zondervan, Krina T | en |
local.search.author | Macgregor, Stuart | en |
local.search.author | Lin, Jianghai | en |
local.search.author | Lee, Sang Hong | en |
local.search.author | Lambert, Ann | en |
local.search.author | Zhao, Zhen Z | en |
local.search.author | Roseman, Fenella | en |
local.search.author | Guo, Qun | en |
local.uneassociation | Unknown | en |
local.year.published | 2011 | en |
Appears in Collections: | Journal Article |
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