{"entity": "publication", "iuid": "5274fa09c9da443bada089829188053e", "timestamp": "2026-09-25T23:03:37.629Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/5274fa09c9da443bada089829188053e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/5274fa09c9da443bada089829188053e"}}, "title": "Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.", "authors": [{"family": "Dareng", "given": "Eileen O", "initials": "EO"}, {"family": "Coetzee", "given": "Simon G", "initials": "SG"}, {"family": "Tyrer", "given": "Jonathan P", "initials": "JP"}, {"family": "Peng", "given": "Pei-Chen", "initials": "PC"}, {"family": "Rosenow", "given": "Will", "initials": "W"}, {"family": "Chen", "given": "Stephanie", "initials": "S"}, {"family": "Davis", "given": "Brian D", "initials": "BD"}, {"family": "Dezem", "given": "Felipe Segato", "initials": "FS"}, {"family": 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"initials": "DP"}, {"family": "Setiawan", "given": "V Wendy", "initials": "VW"}, {"family": "Shan", "given": "Kang", "initials": "K"}, {"family": "Song", "given": "Honglin", "initials": "H"}, {"family": "Southey", "given": "Melissa C", "initials": "MC"}, {"family": "Steed", "given": "Helen", "initials": "H"}, {"family": "Sutphen", "given": "Rebecca", "initials": "R"}, {"family": "Swerdlow", "given": "Anthony J", "initials": "AJ"}, {"family": "Teo", "given": "Soo Hwang", "initials": "SH"}, {"family": "Terry", "given": "Kathryn L", "initials": "KL"}, {"family": "Thompson", "given": "Pamela J", "initials": "PJ"}, {"family": "Vestrheim Thomsen", "given": "Liv Cecilie", "initials": "LC"}, {"family": "Titus", "given": "Linda", "initials": "L"}, {"family": "Trabert", "given": "Britton", "initials": "B"}, {"family": "Travis", "given": "Ruth", "initials": "R"}, {"family": "Tworoger", "given": "Shelley S", "initials": "SS"}, {"family": "Valen", "given": "Ellen", "initials": "E"}, {"family": "Van Nieuwenhuysen", "given": "Els", "initials": "E"}, {"family": "Edwards", "given": "Digna Velez", "initials": "DV"}, {"family": "Vierkant", "given": "Robert A", "initials": "RA"}, {"family": "Webb", "given": "Penelope M", "initials": "PM"}, {"family": "OPAL Study Group", "given": "", "initials": ""}, {"family": "Weinberg", "given": "Clarice R", "initials": "CR"}, {"family": "Weise", "given": "Rayna Matsuno", "initials": "RM"}, {"family": "Wentzensen", "given": "Nicolas", "initials": "N"}, {"family": "White", "given": "Emily", "initials": "E"}, {"family": "Winham", "given": "Stacey J", "initials": "SJ"}, {"family": "Wolk", "given": "Alicja", "initials": "A"}, {"family": "Woo", "given": "Yin-Ling", "initials": "YL"}, {"family": "Wu", "given": "Anna H", "initials": "AH"}, {"family": "Yan", "given": "Li", "initials": "L"}, {"family": "Yannoukakos", "given": "Drakoulis", "initials": "D"}, {"family": "Zeinomar", "given": "Nur", "initials": "N"}, {"family": "Zheng", "given": "Wei", "initials": "W"}, {"family": "Ziogas", "given": "Argyrios", "initials": "A"}, {"family": "Berchuck", "given": "Andrew", "initials": "A"}, {"family": "Goode", "given": "Ellen L", "initials": "EL"}, {"family": "Huntsman", "given": "David G", "initials": "DG"}, {"family": "Pearce", "given": "Celeste L", "initials": "CL"}, {"family": "Ramus", "given": "Susan J", "initials": "SJ"}, {"family": "Sellers", "given": "Thomas A", "initials": "TA"}, {"family": "Ovarian Cancer Association Consortium (OCAC)", "given": "", "initials": ""}, {"family": "Freedman", "given": "Matthew L", "initials": "ML"}, {"family": "Lawrenson", "given": "Kate", "initials": "K"}, {"family": "Schildkraut", "given": "Joellen M", "initials": "JM"}, {"family": "Hazelett", "given": "Dennis", "initials": "D"}, {"family": "Plummer", "given": "Jasmine T", "initials": "JT"}, {"family": "Kar", "given": "Siddhartha", "initials": "S"}, {"family": "Jones", "given": "Michelle R", "initials": "MR"}, {"family": "Pharoah", "given": "Paul D P", "initials": "PDP"}, {"family": "Gayther", "given": "Simon A", "initials": "SA"}], "type": "journal article", "published": "2024-06-06", "journal": {"title": "Am. J. Hum. Genet.", "issn": "1537-6605", "volume": "111", "issue": "6", "pages": "1061-1083", "issn-l": "0002-9297"}, "abstract": "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 \u00d7 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.", "doi": "10.1016/j.ajhg.2024.04.011", "pmid": "38723632", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11179261"}, {"db": "pii", "key": "S0002-9297(24)00126-5"}], "notes": [], "created": "2026-09-23T09:06:20.449Z", "modified": "2026-09-23T09:06:20.498Z"}