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| 001 | 290096 | ||
| 005 | 20250814141012.0 | ||
| 024 | 7 | _ | |a 10.1016/j.ajhg.2024.04.011 |2 doi |
| 024 | 7 | _ | |a pmid:38723632 |2 pmid |
| 024 | 7 | _ | |a 0002-9297 |2 ISSN |
| 024 | 7 | _ | |a 1537-6605 |2 ISSN |
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| 037 | _ | _ | |a DKFZ-2024-00995 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 570 |
| 100 | 1 | _ | |a Dareng, Eileen O |b 0 |
| 245 | _ | _ | |a Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions. |
| 260 | _ | _ | |a New York, NY |c 2024 |b Elsevier |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1718114663_29091 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a 2024 Jun 6;111(6):1061-1083 |
| 520 | _ | _ | |a To 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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| 650 | _ | 7 | |a GWAS |2 Other |
| 650 | _ | 7 | |a epithelial ovarian cancer risk |2 Other |
| 650 | _ | 7 | |a fine mapping |2 Other |
| 650 | _ | 7 | |a functional mechanisms |2 Other |
| 700 | 1 | _ | |a Coetzee, Simon G |b 1 |
| 700 | 1 | _ | |a Tyrer, Jonathan P |b 2 |
| 700 | 1 | _ | |a Peng, Pei-Chen |b 3 |
| 700 | 1 | _ | |a Rosenow, Will |b 4 |
| 700 | 1 | _ | |a Chen, Stephanie |b 5 |
| 700 | 1 | _ | |a Davis, Brian D |b 6 |
| 700 | 1 | _ | |a Dezem, Felipe Segato |b 7 |
| 700 | 1 | _ | |a Seo, Ji-Heui |b 8 |
| 700 | 1 | _ | |a Nameki, Robbin |b 9 |
| 700 | 1 | _ | |a Reyes, Alberto L |b 10 |
| 700 | 1 | _ | |a Aben, Katja K H |b 11 |
| 700 | 1 | _ | |a Anton-Culver, Hoda |b 12 |
| 700 | 1 | _ | |a Antonenkova, Natalia N |b 13 |
| 700 | 1 | _ | |a Aravantinos, Gerasimos |b 14 |
| 700 | 1 | _ | |a Bandera, Elisa V |b 15 |
| 700 | 1 | _ | |a Beane Freeman, Laura E |b 16 |
| 700 | 1 | _ | |a Beckmann, Matthias W |b 17 |
| 700 | 1 | _ | |a Beeghly-Fadiel, Alicia |b 18 |
| 700 | 1 | _ | |a Benitez, Javier |b 19 |
| 700 | 1 | _ | |a Bernardini, Marcus Q |b 20 |
| 700 | 1 | _ | |a Bjorge, Line |b 21 |
| 700 | 1 | _ | |a Black, Amanda |b 22 |
| 700 | 1 | _ | |a Bogdanova, Natalia V |b 23 |
| 700 | 1 | _ | |a Bolton, Kelly L |b 24 |
| 700 | 1 | _ | |a Brenton, James D |b 25 |
| 700 | 1 | _ | |a Budzilowska, Agnieszka |b 26 |
| 700 | 1 | _ | |a Butzow, Ralf |b 27 |
| 700 | 1 | _ | |a Cai, Hui |b 28 |
| 700 | 1 | _ | |a Campbell, Ian |b 29 |
| 700 | 1 | _ | |a Cannioto, Rikki |b 30 |
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| 700 | 1 | _ | |a Chanock, Stephen J |b 32 |
| 700 | 1 | _ | |a Chen, Kexin |b 33 |
| 700 | 1 | _ | |a Chenevix-Trench, Georgia |b 34 |
| 700 | 1 | _ | |a Group, AOCS |b 35 |e Collaboration Author |
| 700 | 1 | _ | |a Chiew, Yoke-Eng |b 36 |
| 700 | 1 | _ | |a Cook, Linda S |b 37 |
| 700 | 1 | _ | |a DeFazio, Anna |b 38 |
| 700 | 1 | _ | |a Dennis, Joe |b 39 |
| 700 | 1 | _ | |a Doherty, Jennifer A |b 40 |
| 700 | 1 | _ | |a Dörk, Thilo |b 41 |
| 700 | 1 | _ | |a du Bois, Andreas |b 42 |
| 700 | 1 | _ | |a Dürst, Matthias |b 43 |
| 700 | 1 | _ | |a Eccles, Diana M |b 44 |
| 700 | 1 | _ | |a Ene, Gabrielle |b 45 |
| 700 | 1 | _ | |a Fasching, Peter A |b 46 |
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| 700 | 1 | _ | |a Goodman, Marc T |b 52 |
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| 700 | 1 | _ | |a Håkansson, Niclas |b 55 |
| 700 | 1 | _ | |a Heitz, Florian |b 56 |
| 700 | 1 | _ | |a Hildebrandt, Michelle A T |b 57 |
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| 700 | 1 | _ | |a Kang, Daehee |b 63 |
| 700 | 1 | _ | |a Karlan, Beth Y |b 64 |
| 700 | 1 | _ | |a Karnezis, Anthony N |b 65 |
| 700 | 1 | _ | |a Kelemen, Linda E |b 66 |
| 700 | 1 | _ | |a Kennedy, Catherine J |b 67 |
| 700 | 1 | _ | |a Khusnutdinova, Elza K |b 68 |
| 700 | 1 | _ | |a Kiemeney, Lambertus A |b 69 |
| 700 | 1 | _ | |a Kjaer, Susanne K |b 70 |
| 700 | 1 | _ | |a Kupryjanczyk, Jolanta |b 71 |
| 700 | 1 | _ | |a Labrie, Marilyne |b 72 |
| 700 | 1 | _ | |a Lambrechts, Diether |b 73 |
| 700 | 1 | _ | |a Larson, Melissa C |b 74 |
| 700 | 1 | _ | |a Le, Nhu D |b 75 |
| 700 | 1 | _ | |a Lester, Jenny |b 76 |
| 700 | 1 | _ | |a Li, Lian |b 77 |
| 700 | 1 | _ | |a Lubiński, Jan |b 78 |
| 700 | 1 | _ | |a Lush, Michael |b 79 |
| 700 | 1 | _ | |a Marks, Jeffrey R |b 80 |
| 700 | 1 | _ | |a Matsuo, Keitaro |b 81 |
| 700 | 1 | _ | |a May, Taymaa |b 82 |
| 700 | 1 | _ | |a McLaughlin, John R |b 83 |
| 700 | 1 | _ | |a McNeish, Iain A |b 84 |
| 700 | 1 | _ | |a Menon, Usha |b 85 |
| 700 | 1 | _ | |a Missmer, Stacey |b 86 |
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| 700 | 1 | _ | |a Monteiro, Alvaro N |b 89 |
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| 700 | 1 | _ | |a Narod, Steven A |b 91 |
| 700 | 1 | _ | |a Nguyen-Dumont, Tu |b 92 |
| 700 | 1 | _ | |a Odunsi, Kunle |b 93 |
| 700 | 1 | _ | |a Olsson, Håkan |b 94 |
| 700 | 1 | _ | |a Onland-Moret, N Charlotte |b 95 |
| 700 | 1 | _ | |a Park, Sue K |b 96 |
| 700 | 1 | _ | |a Pejovic, Tanja |b 97 |
| 700 | 1 | _ | |a Permuth, Jennifer B |b 98 |
| 700 | 1 | _ | |a Piskorz, Anna |b 99 |
| 700 | 1 | _ | |a Prokofyeva, Darya |b 100 |
| 700 | 1 | _ | |a Riggan, Marjorie J |b 101 |
| 700 | 1 | _ | |a Risch, Harvey A |b 102 |
| 700 | 1 | _ | |a Rodríguez-Antona, Cristina |b 103 |
| 700 | 1 | _ | |a Rossing, Mary Anne |b 104 |
| 700 | 1 | _ | |a Sandler, Dale P |b 105 |
| 700 | 1 | _ | |a Setiawan, V Wendy |b 106 |
| 700 | 1 | _ | |a Shan, Kang |b 107 |
| 700 | 1 | _ | |a Song, Honglin |b 108 |
| 700 | 1 | _ | |a Southey, Melissa C |b 109 |
| 700 | 1 | _ | |a Steed, Helen |b 110 |
| 700 | 1 | _ | |a Sutphen, Rebecca |b 111 |
| 700 | 1 | _ | |a Swerdlow, Anthony J |b 112 |
| 700 | 1 | _ | |a Teo, Soo Hwang |b 113 |
| 700 | 1 | _ | |a Terry, Kathryn L |b 114 |
| 700 | 1 | _ | |a Thompson, Pamela J |b 115 |
| 700 | 1 | _ | |a Vestrheim Thomsen, Liv Cecilie |b 116 |
| 700 | 1 | _ | |a Titus, Linda |b 117 |
| 700 | 1 | _ | |a Trabert, Britton |b 118 |
| 700 | 1 | _ | |a Travis, Ruth |b 119 |
| 700 | 1 | _ | |a Tworoger, Shelley S |b 120 |
| 700 | 1 | _ | |a Valen, Ellen |b 121 |
| 700 | 1 | _ | |a Van Nieuwenhuysen, Els |b 122 |
| 700 | 1 | _ | |a Edwards, Digna Velez |b 123 |
| 700 | 1 | _ | |a Vierkant, Robert A |b 124 |
| 700 | 1 | _ | |a Webb, Penelope M |b 125 |
| 700 | 1 | _ | |a Group, OPAL Study |b 126 |e Collaboration Author |
| 700 | 1 | _ | |a Weinberg, Clarice R |b 127 |
| 700 | 1 | _ | |a Weise, Rayna Matsuno |b 128 |
| 700 | 1 | _ | |a Wentzensen, Nicolas |b 129 |
| 700 | 1 | _ | |a White, Emily |b 130 |
| 700 | 1 | _ | |a Winham, Stacey J |b 131 |
| 700 | 1 | _ | |a Wolk, Alicja |b 132 |
| 700 | 1 | _ | |a Woo, Yin-Ling |b 133 |
| 700 | 1 | _ | |a Wu, Anna H |b 134 |
| 700 | 1 | _ | |a Yan, Li |b 135 |
| 700 | 1 | _ | |a Yannoukakos, Drakoulis |b 136 |
| 700 | 1 | _ | |a Zeinomar, Nur |b 137 |
| 700 | 1 | _ | |a Zheng, Wei |b 138 |
| 700 | 1 | _ | |a Ziogas, Argyrios |b 139 |
| 700 | 1 | _ | |a Berchuck, Andrew |b 140 |
| 700 | 1 | _ | |a Goode, Ellen L |b 141 |
| 700 | 1 | _ | |a Huntsman, David G |b 142 |
| 700 | 1 | _ | |a Pearce, Celeste L |b 143 |
| 700 | 1 | _ | |a Ramus, Susan J |b 144 |
| 700 | 1 | _ | |a Sellers, Thomas A |b 145 |
| 700 | 1 | _ | |a Consortium, Ovarian Cancer Association |b 146 |e Collaboration Author |
| 700 | 1 | _ | |a Freedman, Matthew L |b 147 |
| 700 | 1 | _ | |a Lawrenson, Kate |b 148 |
| 700 | 1 | _ | |a Schildkraut, Joellen M |b 149 |
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| 700 | 1 | _ | |a Jones, Michelle R |b 153 |
| 700 | 1 | _ | |a Pharoah, Paul D P |b 154 |
| 700 | 1 | _ | |a Gayther, Simon A |b 155 |
| 773 | _ | _ | |a 10.1016/j.ajhg.2024.04.011 |g p. S0002929724001265 |0 PERI:(DE-600)1473813-2 |n 6 |p 1061-1083 |t The American journal of human genetics |v 111 |y 2024 |x 0002-9297 |
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