ArticleScientific reports2017
Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Association of rs401681 (C > T) and rs402710 (C > T) polymorphisms in the CLPTM1L region with risk of lung cancer: a systematic review and meta-analysis.Scientific reports · 2024Pooled it
- Dual E-Cigarette Users Show Nicotine Addiction Risk Alleles and Nuclear Abnormalities in Oral Epithelial Cells.Advances in respiratory medicine · 2026Article
- Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.Genes, chromosomes & cancer · 2025Article
- A Multi-omic study integrating plasma protein, multiple tissues, and single-cell identifies RNASET2 as a key gene for lung cancer.Discover oncology · 2025Article
- The updated relationship between the cleft‑lip and palate transmembrane protein‑1‑like rs401681 and lung cancer risk: A systematic review and meta‑analysis.Molecular and clinical oncology · 2024Article
- Germline Polymorphisms Associated with Overall Survival in Lung Adenocarcinoma: Genome-Wide Analysis.Cancers · 2024Article
- Therapeutic targets for lung cancer: genome-wide Mendelian randomization and colocalization analyses.Frontiers in pharmacology · 2024Article
- Article
- Albumin-bound paclitaxel augment temozolomide treatment sensitivity of glioblastoma cells by disrupting DNA damage repair and promoting ferroptosis.Journal of experimental & clinical cancer research : CR · 2023Article
- Genetic predisposition to lung adenocarcinoma outcome is a feature already present in patients' noninvolved lung tissue.Cancer science · 2023Article
- A miR-15a related polymorphism affects NSCLC prognosis via altering ERCC1 repair to platinum-based chemotherapy.Journal of cellular and molecular medicine · 2022Article
- Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk.BMC medical genetics · 2020Article
- Genetic polymorphisms inCancer management and research · 2019Article
- Rs3212986 polymorphism, a possible biomarker to predict smoking-related lung cancer, alters DNA repair capacity via regulating ERCC1 expression.Cancer medicine · 2018Article
- Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence.BMC genomics · 2018Article
- Krüppel-like factor 4 promotes c-Met amplification-mediated gefitinib resistance in non-small-cell lung cancer.Cancer science · 2018Article
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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