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Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci.
- Source :
-
Scientific reports [Sci Rep] 2017 Feb 09; Vol. 7, pp. 42185. Date of Electronic Publication: 2017 Feb 09. - Publication Year :
- 2017
-
Abstract
- Many single nucleotide polymorphisms (SNPs) have been associated with lung cancer but lack confirmation and functional characterization. We retested the association of 56 candidate SNPs with lung adenocarcinoma risk and overall survival in a cohort of 823 Italian patients and 779 healthy controls, and assessed their function as expression quantitative trait loci (eQTLs). In the replication study, eight SNPs (rs401681, rs3019885, rs732765, rs2568494, rs16969968, rs6495309, rs11634351, and rs4105144) associated with lung adenocarcinoma risk and three (rs9557635, rs4105144, and rs735482) associated with survival. Five of these SNPs acted as cis-eQTLs, being associated with the transcription of IREB2 (rs2568494, rs16969968, rs11634351, rs6495309), PSMA4 (rs6495309) and ERCC1 (rs735482), out of 10,821 genes analyzed in lung. For these three genes, we obtained experimental evidence of differential allelic expression in lung tissue, pointing to the existence of in-cis genomic variants that regulate their transcription. These results suggest that these SNPs exert their effects on cancer risk/outcome through the modulation of mRNA levels of their target genes.<br />Competing Interests: The authors declare no competing financial interests.
- Subjects :
- Adenocarcinoma pathology
Adenocarcinoma of Lung
Adult
Aged
Aged, 80 and over
Female
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Lung Neoplasms pathology
Male
Middle Aged
Polymorphism, Single Nucleotide genetics
Quantitative Trait Loci genetics
Adenocarcinoma genetics
DNA-Binding Proteins genetics
Endonucleases genetics
Iron Regulatory Protein 2 genetics
Lung Neoplasms genetics
Proteasome Endopeptidase Complex genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2045-2322
- Volume :
- 7
- Database :
- MEDLINE
- Journal :
- Scientific reports
- Publication Type :
- Academic Journal
- Accession number :
- 28181565
- Full Text :
- https://doi.org/10.1038/srep42185