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000134812 1001_ $$00000-0002-4992-2458$$aPainter, Jodie N$$b0
000134812 245__ $$aGenetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
000134812 260__ $$aHoboken, NJ$$bWiley$$c2018
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000134812 520__ $$aEpidemiological, 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.
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000134812 7001_ $$aMorris, Andrew P$$b2
000134812 7001_ $$aCheng, Timothy H T$$b3
000134812 7001_ $$aGorman, Maggie$$b4
000134812 7001_ $$aMartin, Lynn$$b5
000134812 7001_ $$aHodson, Shirley$$b6
000134812 7001_ $$aJones, Angela$$b7
000134812 7001_ $$aMartin, Nicholas G$$b8
000134812 7001_ $$aGordon, Scott$$b9
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000134812 7001_ $$aAttia, John$$b11
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000134812 7001_ $$aScott, Rodney J$$b14
000134812 7001_ $$aWebb, Penelope M$$b15
000134812 7001_ $$00000-0003-4885-8471$$aFasching, Peter A$$b16
000134812 7001_ $$aBeckmann, Matthias W$$b17
000134812 7001_ $$aEkici, Arif B$$b18
000134812 7001_ $$aHein, Alexander$$b19
000134812 7001_ $$aRübner, Matthias$$b20
000134812 7001_ $$aHall, Per$$b21
000134812 7001_ $$aCzene, Kamila$$b22
000134812 7001_ $$00000-0002-9458-0282$$aDörk, Thilo$$b23
000134812 7001_ $$aDürst, Matthias$$b24
000134812 7001_ $$aHillemanns, Peter$$b25
000134812 7001_ $$aRunnebaum, Ingo$$b26
000134812 7001_ $$00000-0002-2402-4029$$aLambrechts, Diether$$b27
000134812 7001_ $$aAmant, Frederic$$b28
000134812 7001_ $$aAnnibali, Daniela$$b29
000134812 7001_ $$aDepreeuw, Jeroen$$b30
000134812 7001_ $$aVanderstichele, Adriaan$$b31
000134812 7001_ $$00000-0002-9094-8326$$aGoode, Ellen L$$b32
000134812 7001_ $$aCunningham, Julie M$$b33
000134812 7001_ $$aDowdy, Sean C$$b34
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000134812 7001_ $$aTrovik, Jone$$b36
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000134812 7001_ $$aKrakstad, Camilla$$b39
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000134812 7001_ $$aProietto, Tony$$b42
000134812 7001_ $$aTham, Emma$$b43
000134812 7001_ $$aMints, Miriam$$b44
000134812 7001_ $$aAhmed, Shahana$$b45
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000134812 7001_ $$aShah, Mitul$$b47
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