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dc.contributor.authorPainter, JN
dc.contributor.authorO'Mara, TA
dc.contributor.authorMorris, AP
dc.contributor.authorCheng, THT
dc.contributor.authorGorman, M
dc.contributor.authorMartin, L
dc.contributor.authorHodson, S
dc.contributor.authorJones, A
dc.contributor.authorMartin, NG
dc.contributor.authorGordon, S
dc.contributor.authorHenders, AK
dc.contributor.authorAttia, J
dc.contributor.authorMcEvoy, M
dc.contributor.authorHolliday, EG
dc.contributor.authorScott, RJ
dc.contributor.authorWebb, PM
dc.contributor.authorFasching, PA
dc.contributor.authorBeckmann, MW
dc.contributor.authorEkici, AB
dc.contributor.authorHein, A
dc.contributor.authorRübner, M
dc.contributor.authorHall, P
dc.contributor.authorCzene, K
dc.contributor.authorDörk, T
dc.contributor.authorDürst, M
dc.contributor.authorHillemanns, P
dc.contributor.authorRunnebaum, I
dc.contributor.authorLambrechts, D
dc.contributor.authorLambrechts, D
dc.contributor.authorAmant, F
dc.contributor.authorAnnibali, D
dc.contributor.authorDepreeuw, J
dc.contributor.authorVanderstichele, A
dc.contributor.authorGoode, EL
dc.contributor.authorCunningham, JM
dc.contributor.authorDowdy, SC
dc.contributor.authorWinham, SJ
dc.contributor.authorTrovik, J
dc.contributor.authorHoivik, E
dc.contributor.authorWerner, HMJ
dc.contributor.authorKrakstad, C
dc.contributor.authorAshton, K
dc.contributor.authorOtton, G
dc.contributor.authorProietto, T
dc.contributor.authorTham, E
dc.contributor.authorMints, M
dc.contributor.authorAhmed, S
dc.contributor.authorHealey, CS
dc.contributor.authorShah, M
dc.contributor.authorPharoah, PDP
dc.contributor.authorDunning, AM
dc.contributor.authorDennis, J
dc.contributor.authorBolla, MK
dc.contributor.authorMichailidou, K
dc.contributor.authorWang, Q
dc.contributor.authorTyrer, JP
dc.contributor.authorHopper, JL
dc.contributor.authorPeto, J
dc.contributor.authorSwerdlow, AJ
dc.contributor.authorBurwinkel, B
dc.contributor.authorBrenner, H
dc.contributor.authorMeindl, A
dc.contributor.authorBrauch, H
dc.contributor.authorLindblom, A
dc.contributor.authorChang-Claude, J
dc.contributor.authorCouch, FJ
dc.contributor.authorGiles, GG
dc.contributor.authorKristensen, VN
dc.contributor.authorCox, A
dc.contributor.authorZondervan, KT
dc.contributor.authorNyholt, DR
dc.contributor.authorMacGregor, S
dc.contributor.authorMontgomery, GW
dc.contributor.authorTomlinson, I
dc.contributor.authorEaston, DF
dc.contributor.authorThompson, DJ
dc.contributor.authorSpurdle, AB
dc.date.accessioned2018-04-16T13:34:45Z
dc.date.issued2018-05
dc.identifier.citationCancer medicine, 2018, 7 (5), pp. 1978 - 1987
dc.identifier.issn2045-7634
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1644
dc.identifier.eissn2045-7634en_US
dc.identifier.doi10.1002/cam4.1445en_US
dc.description.abstractEpidemiological, biological, and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis and risk of endometrial cancer. We used genetic data as an alternative approach to investigate shared biological etiology of these two diseases. Genetic correlation analysis of summary level statistics from genomewide association studies (GWAS) using LD Score regression revealed moderate but significant genetic correlation (rg  = 0.23, P = 9.3 × 10-3 ), and SNP effect concordance analysis provided evidence for significant SNP pleiotropy (P = 6.0 × 10-3 ) and concordance in effect direction (P = 2.0 × 10-3 ) between the two diseases. Cross-disease GWAS meta-analysis highlighted 13 distinct loci associated at P ≤ 10-5 with both endometriosis and endometrial cancer, with one locus (SNP rs2475335) located within PTPRD associated at a genomewide significant level (P = 4.9 × 10-8 , OR = 1.11, 95% CI = 1.07-1.15). PTPRD acts in the STAT3 pathway, which has been implicated in both endometriosis and endometrial cancer. This study demonstrates the value of cross-disease genetic analysis to support epidemiological observations and to identify biological pathways of relevance to multiple diseases.
dc.formatPrint-Electronic
dc.format.extent1978 - 1987
dc.languageeng
dc.language.isoeng
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectEndometrium
dc.subjectHumans
dc.subjectEndometrial Neoplasms
dc.subjectEndometriosis
dc.subjectGenetic Predisposition to Disease
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAustralia
dc.subjectFemale
dc.subjectSTAT3 Transcription Factor
dc.subjectReceptor-Like Protein Tyrosine Phosphatases, Class 2
dc.subjectGenome-Wide Association Study
dc.titleGenetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
dc.typeJournal Article
dcterms.dateAccepted2018-01-21
rioxxterms.versionofrecord10.1002/cam4.1445
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2018-05en_US
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfCancer medicine
pubs.issue5
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublished
pubs.volume7en_US
pubs.embargo.termsNot known
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSwerdlow, Anthonyen


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