Integrative genomic analysis identifies ancestry-related expression quantitative trait loci on DNA polymerase β and supports the association of genetic ancestry with survival disparities in head and neck squamous cell carcinoma
| Autor: | Karthik Devarajan, Ranee Mehra, Denise Gibbs, Jeffrey C. Liu, Suzy Duflo, Rob J. Kulathinal, Jacqueline Deloumeaux, Camille Ragin, Danièle Luce, Meganathan P. Ramakodi, Elizabeth Blackman |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics Cancer Research Cancer Single-nucleotide polymorphism Biology medicine.disease Head and neck squamous-cell carcinoma 3. Good health 03 medical and health sciences 030104 developmental biology Oncology Expression quantitative trait loci Genotype medicine Copy-number variation Allele Survival rate |
| Zdroj: | Cancer. 123:849-860 |
| ISSN: | 0008-543X |
| Popis: | 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 β (POLB) gene (false discovery rate [FDR] |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text