Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.

Original publication

DOI

10.1093/hmg/ddu264

Type

Journal article

Journal

Hum Mol Genet

Publication Date

15/10/2014

Volume

23

Pages

5545 - 5557

Keywords

Adult, Aged, Aged, 80 and over, Calcium-Binding Proteins, Case-Control Studies, Chromosomes, Human, Pair 20, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Intercellular Signaling Peptides and Proteins, Jagged-1 Protein, Male, Membrane Proteins, Middle Aged, Polymorphism, Single Nucleotide, Serrate-Jagged Proteins, Urinary Bladder Neoplasms