Genome-wide significant risk associations for mucinous ovarian carcinoma
Copyright policy )Genome-wide significant risk associations for mucinous ovarian carcinoma
Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(-12)) and rs688187 at 19q13.2 (P = 6.8 × 10(-13)). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.
- Mayo Clinic United States
- University of California, Irvine United States
- Monash University Australia
- University of Glasgow United Kingdom
- University of Queensland Australia
Ovarian Cancer Association Consortium, Medical and Health Sciences, Risk Factors, 2.1 Biological and endogenous factors, Mucinous, Aetiology, Cancer, Ovarian Neoplasms, Microscopy, Tumor, Reverse Transcriptase Polymerase Chain Reaction, Single Nucleotide, Biological Sciences, Adenocarcinoma, Mucinous, Ovarian Cancer, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, ovarian cancer, Chromosomes, Human, Pair 2, Pair 2, Female, Human, Australian Ovarian Cancer Study Group, Green Fluorescent Proteins, Molecular Sequence Data, Quantitative Trait Loci, Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences, 610, Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences, Adenocarcinoma, Polymorphism, Single Nucleotide, Chromosomes, Fluorescence, Article, Cell Line, Rare Diseases, 1311 Genetics, Australian Cancer Study, Cell Line, Tumor, 616, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Genetic Association Studies, Cell Nucleus, Homeodomain Proteins, Neoplastic, Base Sequence, Prevention, Gene Expression Regulation, Microscopy, Fluorescence, genome-wide association studies, Developmental Biology, Genome-Wide Association Study
Ovarian Cancer Association Consortium, Medical and Health Sciences, Risk Factors, 2.1 Biological and endogenous factors, Mucinous, Aetiology, Cancer, Ovarian Neoplasms, Microscopy, Tumor, Reverse Transcriptase Polymerase Chain Reaction, Single Nucleotide, Biological Sciences, Adenocarcinoma, Mucinous, Ovarian Cancer, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, ovarian cancer, Chromosomes, Human, Pair 2, Pair 2, Female, Human, Australian Ovarian Cancer Study Group, Green Fluorescent Proteins, Molecular Sequence Data, Quantitative Trait Loci, Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences, 610, Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences, Adenocarcinoma, Polymorphism, Single Nucleotide, Chromosomes, Fluorescence, Article, Cell Line, Rare Diseases, 1311 Genetics, Australian Cancer Study, Cell Line, Tumor, 616, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Genetic Association Studies, Cell Nucleus, Homeodomain Proteins, Neoplastic, Base Sequence, Prevention, Gene Expression Regulation, Microscopy, Fluorescence, genome-wide association studies, Developmental Biology, Genome-Wide Association Study
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