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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.authorRuebner, M
dc.contributor.authorHall, P
dc.contributor.authorCzene, K
dc.contributor.authorDoerk, T
dc.contributor.authorDuerst, M
dc.contributor.authorHillemanns, P
dc.contributor.authorRunnebaum, I
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.accessioned2020-12-17T03:13:36Z
dc.date.available2020-12-17T03:13:36Z
dc.date.issued2018-05-01
dc.identifier.citationPainter, J. N., O'Mara, T. A., Morris, A. P., Cheng, T. H. T., Gorman, M., Martin, L., Hodson, S., Jones, A., Martin, N. G., Gordon, S., Henders, A. K., Attia, J., McEvoy, M., Holliday, E. G., Scott, R. J., Webb, P. M., Fasching, P. A., Beckmann, M. W., Ekici, A. B. ,... Spurdle, A. B. (2018). Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. CANCER MEDICINE, 7 (5), pp.1978-1987. https://doi.org/10.1002/cam4.1445.
dc.identifier.issn2045-7634
dc.identifier.urihttp://hdl.handle.net/11343/254797
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.languageEnglish
dc.publisherWILEY
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleGenetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses
dc.typeJournal Article
dc.identifier.doi10.1002/cam4.1445
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.source.titleCancer Medicine
melbourne.source.volume7
melbourne.source.issue5
melbourne.source.pages1978-1987
melbourne.identifier.nhmrc400281
melbourne.identifier.nhmrc400413
dc.rights.licenseCC BY
melbourne.elementsid1321808
melbourne.contributor.authorGiles, Graham
melbourne.contributor.authorHopper, John
dc.identifier.eissn2045-7634
melbourne.identifier.fundernameidNHMRC, 400281
melbourne.identifier.fundernameidNHMRC, 400413
melbourne.identifier.fundernameidUNITED STATES DEPT OF DEFENSE, OC000109
melbourne.accessrightsOpen Access


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