1. Integrative Genomic Analysis Identifies Ancestry-Related Expression Quantitative Trait Loci on DNA Polymerase beta and Supports the Association of Genetic Ancestry With Survival Disparities in Head and Neck Squamous Cell Carcinoma
- Author
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Ramakodi, Meganathan P., Devarajan, Karthik, Blackman, Elizabeth, Gibbs, Denise, Luce, Danièle, Deloumeaux, Jacqueline, Duflo, Suzy, Liu, Jeffrey C., Mehra, Ranee, Kulathinal, Rob J., Ragin, Camille C., Fox Chase Cancer Center, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), African Caribbean Cancer Consortium [Pointe-à-Pitre, Guadeloupe], CHU Pointe-à-Pitre/Abymes [Guadeloupe], Temple University [Philadelphia], Pennsylvania Commonwealth System of Higher Education (PCSHE), American Cancer Society [RSG-14-033-01-CPPB], National Cancer Institute [CA006927], William J. Avery Postdoctoral Research Fellowship, French National Cancer Institute, and Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
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survival disparity ,dna polymerase beta ,[SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health ,head and neck squamous cell carcinoma ,expression quantitative trait locus (eqtl) ,genetic ancestry - Abstract
International audience; BACKGROUND: African Americans with head and neck squamous cell carcinoma (HNSCC) have a lower survival rate than whites. This study investigated the functional importance of ancestry-informative single-nucleotide polymorphisms (SNPs) in HNSCC and also examined the effect of functionally important genetic elements on racial disparities in HNSCC survival. METHODS: Ancestry-informative SNPs, RNA sequencing, methylation, and copy number variation data for 316 oral cavity and laryngeal cancer patients were analyzed across 178 DNA repair genes. The results of expression quantitative trait locus (eQTL) analyses were also replicated with a Gene Expression Omnibus (GEO) data set. The effects of eQTLs on overall survival (OS) and disease-free survival (DFS) were evaluated. RESULTS: Five ancestry-related SNPs were identified as cis-eQTLs in the DNA polymerase beta (POLB) gene (false discovery rate [FDR]
- Published
- 2017
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