ArticleCarcinogenesis2016
Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci.
Article in Carcinogenesis, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 5 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 5 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Differences in the risk association of TERT rs2736098 (C > T) with lung cancer between Caucasian and Asian populations: A meta-analysis.Scientific reports · 2025Pooled it
- 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
- Pooled it
- Ethnicity-specific association between TERT rs2736100 (A > C) polymorphism and lung cancer risk: a comprehensive meta-analysis.Scientific reports · 2023Pooled it
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.Nature genetics · 2022Pooled it
- The causal relevance of body mass index in different histological types of lung cancer: A Mendelian randomization study.Scientific reports · 2016Trial
- Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Review
- 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
- Candidate pathway analysis of surfactant proteins identifies CTSH and SFTA2 that influences lung cancer risk.Human molecular genetics · 2023Article
- Article
- Functional studies of lung cancer GWAS beyond association.Human molecular genetics · 2022Review
- Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk.Human molecular genetics · 2022Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.HGG advances · 2021Article
- Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model.Cancer research · 2021Article
- Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.Scientific reports · 2021Article
- Rare deleterious germline variants and risk of lung cancer.NPJ precision oncology · 2021Article
- Protein-altering germline mutations implicate novel genes related to lung cancer development.Nature communications · 2020Article
- Genomic analyses of flow-sorted Hodgkin Reed-Sternberg cells reveal complementary mechanisms of immune evasion.Blood advances · 2019Article
- Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2019Article
Corrections and comments
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Authors and funding
44 authors at 20 institutions in 13 countries.
Funding
Abstract
Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000×) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73×10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = 2.64×10(-6)), rs112290073 (OR = 1.85, P = 1.27×10(-5)), rs138895564 (OR = 2.16, P = 2.06×10(-5); among young cases, OR = 3.77, P = 8.41×10(-4)). In addition, we found that rs139852726 (P = 1.44×10(-3)) was associated with telomere length in a sample of 922 healthy individuals. The gene-based SKAT-O analysis implicated TERT as the most relevant gene in the 5p15.33 region for adenocarcinoma (P = 7.84×10(-7)) and lung cancer (P = 2.37×10(-5)) risk. In this largest fine-mapping study to investigate a large number of rare and novel variants within 5p15.33, we identified novel lung and adenocarcinoma susceptibility loci with large effects and provided support for the role of telomere length as the potential underlying mechanism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.