Dissemin is shutting down on January 1st, 2025

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Nature Research, Nature Genetics, 8(47), p. 888-897, 2015

DOI: 10.1038/ng.3336

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Genome-wide significant risk associations for mucinous ovarian carcinoma

Journal article published in 2015 by Andreas du Bois, Anne M. van Altena, Linda E. Kelemen, Kate Lawrenson, Jonathan Tyrer, Janet M. Lee, Qiyuan Li, Katja K. H. Aben, Hoda Anton-Culver, Ji-Heui Seo, Natalia Antonenkova, Helen Baker, Elisa V. Bandera, Catherine M. Phelan, Yukie Bean and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

© 2015 Nature America, Inc. All rights reserved. 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.