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000290096 041__ $$aEnglish
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000290096 1001_ $$aDareng, Eileen O$$b0
000290096 245__ $$aIntegrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
000290096 260__ $$aNew York, NY$$bElsevier$$c2024
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000290096 500__ $$a2024 Jun 6;111(6):1061-1083
000290096 520__ $$aTo identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10-8) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10-5). Fine mapping identified 4,008 CCVs in these regions, of which 1,452 CCVs were located in ovarian cancer-related chromatin marks with significant enrichment in active enhancers, active promoters, and active regions for CCVs from each EOC histotype. Transcriptome-wide association and colocalization analyses across histotypes using tissue-specific and cross-tissue datasets identified 86 candidate susceptibility genes in known EOC risk regions and 32 genes in 23 additional genomic regions that may represent novel EOC risk loci (false discovery rate <0.05). Finally, by integrating genome-wide HiChIP interactome analysis with transcriptome-wide association study (TWAS), variant effect predictor, transcription factor ChIP-seq, and motifbreakR data, we identified candidate gene-CCV interactions at each locus. This included risk loci where TWAS identified one or more candidate susceptibility genes (e.g., HOXD-AS2, HOXD8, and HOXD3 at 2q31) and other loci where no candidate gene was identified (e.g., MYC and PVT1 at 8q24) by TWAS. In summary, this study describes a functional framework and provides a greater understanding of the biological significance of risk alleles and candidate gene targets at EOC susceptibility loci identified by a genome-wide association study.
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000290096 650_7 $$2Other$$aGWAS
000290096 650_7 $$2Other$$aepithelial ovarian cancer risk
000290096 650_7 $$2Other$$afine mapping
000290096 650_7 $$2Other$$afunctional mechanisms
000290096 7001_ $$aCoetzee, Simon G$$b1
000290096 7001_ $$aTyrer, Jonathan P$$b2
000290096 7001_ $$aPeng, Pei-Chen$$b3
000290096 7001_ $$aRosenow, Will$$b4
000290096 7001_ $$aChen, Stephanie$$b5
000290096 7001_ $$aDavis, Brian D$$b6
000290096 7001_ $$aDezem, Felipe Segato$$b7
000290096 7001_ $$aSeo, Ji-Heui$$b8
000290096 7001_ $$aNameki, Robbin$$b9
000290096 7001_ $$aReyes, Alberto L$$b10
000290096 7001_ $$aAben, Katja K H$$b11
000290096 7001_ $$aAnton-Culver, Hoda$$b12
000290096 7001_ $$aAntonenkova, Natalia N$$b13
000290096 7001_ $$aAravantinos, Gerasimos$$b14
000290096 7001_ $$aBandera, Elisa V$$b15
000290096 7001_ $$aBeane Freeman, Laura E$$b16
000290096 7001_ $$aBeckmann, Matthias W$$b17
000290096 7001_ $$aBeeghly-Fadiel, Alicia$$b18
000290096 7001_ $$aBenitez, Javier$$b19
000290096 7001_ $$aBernardini, Marcus Q$$b20
000290096 7001_ $$aBjorge, Line$$b21
000290096 7001_ $$aBlack, Amanda$$b22
000290096 7001_ $$aBogdanova, Natalia V$$b23
000290096 7001_ $$aBolton, Kelly L$$b24
000290096 7001_ $$aBrenton, James D$$b25
000290096 7001_ $$aBudzilowska, Agnieszka$$b26
000290096 7001_ $$aButzow, Ralf$$b27
000290096 7001_ $$aCai, Hui$$b28
000290096 7001_ $$aCampbell, Ian$$b29
000290096 7001_ $$aCannioto, Rikki$$b30
000290096 7001_ $$0P:(DE-He78)c259d6cc99edf5c7bc7ce22c7f87c253$$aChang-Claude, Jenny$$b31$$udkfz
000290096 7001_ $$aChanock, Stephen J$$b32
000290096 7001_ $$aChen, Kexin$$b33
000290096 7001_ $$aChenevix-Trench, Georgia$$b34
000290096 7001_ $$aGroup, AOCS$$b35$$eCollaboration Author
000290096 7001_ $$aChiew, Yoke-Eng$$b36
000290096 7001_ $$aCook, Linda S$$b37
000290096 7001_ $$aDeFazio, Anna$$b38
000290096 7001_ $$aDennis, Joe$$b39
000290096 7001_ $$aDoherty, Jennifer A$$b40
000290096 7001_ $$aDörk, Thilo$$b41
000290096 7001_ $$adu Bois, Andreas$$b42
000290096 7001_ $$aDürst, Matthias$$b43
000290096 7001_ $$aEccles, Diana M$$b44
000290096 7001_ $$aEne, Gabrielle$$b45
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000290096 7001_ $$aFlanagan, James M$$b47
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000290096 7001_ $$aGentry-Maharaj, Aleksandra$$b50
000290096 7001_ $$aGiles, Graham G$$b51
000290096 7001_ $$aGoodman, Marc T$$b52
000290096 7001_ $$aGronwald, Jacek$$b53
000290096 7001_ $$aHaiman, Christopher A$$b54
000290096 7001_ $$aHåkansson, Niclas$$b55
000290096 7001_ $$aHeitz, Florian$$b56
000290096 7001_ $$aHildebrandt, Michelle A T$$b57
000290096 7001_ $$aHøgdall, Estrid$$b58
000290096 7001_ $$aHøgdall, Claus K$$b59
000290096 7001_ $$aHuang, Ruea-Yea$$b60
000290096 7001_ $$aJensen, Allan$$b61
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000290096 7001_ $$aKang, Daehee$$b63
000290096 7001_ $$aKarlan, Beth Y$$b64
000290096 7001_ $$aKarnezis, Anthony N$$b65
000290096 7001_ $$aKelemen, Linda E$$b66
000290096 7001_ $$aKennedy, Catherine J$$b67
000290096 7001_ $$aKhusnutdinova, Elza K$$b68
000290096 7001_ $$aKiemeney, Lambertus A$$b69
000290096 7001_ $$aKjaer, Susanne K$$b70
000290096 7001_ $$aKupryjanczyk, Jolanta$$b71
000290096 7001_ $$aLabrie, Marilyne$$b72
000290096 7001_ $$aLambrechts, Diether$$b73
000290096 7001_ $$aLarson, Melissa C$$b74
000290096 7001_ $$aLe, Nhu D$$b75
000290096 7001_ $$aLester, Jenny$$b76
000290096 7001_ $$aLi, Lian$$b77
000290096 7001_ $$aLubiński, Jan$$b78
000290096 7001_ $$aLush, Michael$$b79
000290096 7001_ $$aMarks, Jeffrey R$$b80
000290096 7001_ $$aMatsuo, Keitaro$$b81
000290096 7001_ $$aMay, Taymaa$$b82
000290096 7001_ $$aMcLaughlin, John R$$b83
000290096 7001_ $$aMcNeish, Iain A$$b84
000290096 7001_ $$aMenon, Usha$$b85
000290096 7001_ $$aMissmer, Stacey$$b86
000290096 7001_ $$aModugno, Francesmary$$b87
000290096 7001_ $$aMoffitt, Melissa$$b88
000290096 7001_ $$aMonteiro, Alvaro N$$b89
000290096 7001_ $$aMoysich, Kirsten B$$b90
000290096 7001_ $$aNarod, Steven A$$b91
000290096 7001_ $$aNguyen-Dumont, Tu$$b92
000290096 7001_ $$aOdunsi, Kunle$$b93
000290096 7001_ $$aOlsson, Håkan$$b94
000290096 7001_ $$aOnland-Moret, N Charlotte$$b95
000290096 7001_ $$aPark, Sue K$$b96
000290096 7001_ $$aPejovic, Tanja$$b97
000290096 7001_ $$aPermuth, Jennifer B$$b98
000290096 7001_ $$aPiskorz, Anna$$b99
000290096 7001_ $$aProkofyeva, Darya$$b100
000290096 7001_ $$aRiggan, Marjorie J$$b101
000290096 7001_ $$aRisch, Harvey A$$b102
000290096 7001_ $$aRodríguez-Antona, Cristina$$b103
000290096 7001_ $$aRossing, Mary Anne$$b104
000290096 7001_ $$aSandler, Dale P$$b105
000290096 7001_ $$aSetiawan, V Wendy$$b106
000290096 7001_ $$aShan, Kang$$b107
000290096 7001_ $$aSong, Honglin$$b108
000290096 7001_ $$aSouthey, Melissa C$$b109
000290096 7001_ $$aSteed, Helen$$b110
000290096 7001_ $$aSutphen, Rebecca$$b111
000290096 7001_ $$aSwerdlow, Anthony J$$b112
000290096 7001_ $$aTeo, Soo Hwang$$b113
000290096 7001_ $$aTerry, Kathryn L$$b114
000290096 7001_ $$aThompson, Pamela J$$b115
000290096 7001_ $$aVestrheim Thomsen, Liv Cecilie$$b116
000290096 7001_ $$aTitus, Linda$$b117
000290096 7001_ $$aTrabert, Britton$$b118
000290096 7001_ $$aTravis, Ruth$$b119
000290096 7001_ $$aTworoger, Shelley S$$b120
000290096 7001_ $$aValen, Ellen$$b121
000290096 7001_ $$aVan Nieuwenhuysen, Els$$b122
000290096 7001_ $$aEdwards, Digna Velez$$b123
000290096 7001_ $$aVierkant, Robert A$$b124
000290096 7001_ $$aWebb, Penelope M$$b125
000290096 7001_ $$aGroup, OPAL Study$$b126$$eCollaboration Author
000290096 7001_ $$aWeinberg, Clarice R$$b127
000290096 7001_ $$aWeise, Rayna Matsuno$$b128
000290096 7001_ $$aWentzensen, Nicolas$$b129
000290096 7001_ $$aWhite, Emily$$b130
000290096 7001_ $$aWinham, Stacey J$$b131
000290096 7001_ $$aWolk, Alicja$$b132
000290096 7001_ $$aWoo, Yin-Ling$$b133
000290096 7001_ $$aWu, Anna H$$b134
000290096 7001_ $$aYan, Li$$b135
000290096 7001_ $$aYannoukakos, Drakoulis$$b136
000290096 7001_ $$aZeinomar, Nur$$b137
000290096 7001_ $$aZheng, Wei$$b138
000290096 7001_ $$aZiogas, Argyrios$$b139
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000290096 7001_ $$aRamus, Susan J$$b144
000290096 7001_ $$aSellers, Thomas A$$b145
000290096 7001_ $$aConsortium, Ovarian Cancer Association$$b146$$eCollaboration Author
000290096 7001_ $$aFreedman, Matthew L$$b147
000290096 7001_ $$aLawrenson, Kate$$b148
000290096 7001_ $$aSchildkraut, Joellen M$$b149
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