ArticleClinical epigenetics2020
Individual and joint contributions of genetic and methylation risk scores for enhancing lung cancer risk stratification: data from a population-based cohort in Germany.
Article in Clinical epigenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Risk prediction for lung cancer screening: a systematic review and meta-regression.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- The current state of polygenic scores for the development of lung cancer: a systematic review and validation in UK Biobank.British journal of cancer · 2026Pooled it
- Epigenetic-mediated positive feedback loop facilitates the progression of lung adenocarcinoma.iScience · 2025Article
- Review
- Development of a metabolomic risk score for exposure to traffic-related air pollution: A multi-cohort study.Environmental research · 2024Article
- A clinically effective model based on cell-free DNA methylation and low-dose CT for risk stratification of pulmonary nodules.Cell reports. Medicine · 2024Article
- Cigarette Smoking and E-cigarette Use Induce Shared DNA Methylation Changes Linked to Carcinogenesis.Cancer research · 2024Article
- Cancer-specific risk prediction with a serum microRNA signature.Cancer science · 2024Article
- Pruning and thresholding approach for methylation risk scores in multi-ancestry populations.Epigenetics · 2023Article
- Article
- Integration of Genomic Risk Scores to Improve the Prediction of Childhood Asthma Diagnosis.Journal of personalized medicine · 2022Article
- Article
- Exploring the Ethics of Implementation of Epigenomics Technologies in Cancer Screening: A Focus Group Study.Epigenetics insights · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRisk stratification for lung cancer (LC) screening is so far mostly based on smoking history. This study aimed to assess if and to what extent such risk stratification could be enhanced by additional consideration of genetic risk scores (GRSs) and epigenetic risk scores defined by DNA methylation.
methodsWe conducted a nested case-control study of 143 incident LC cases and 1460 LC-free controls within a prospective cohort of 9949 participants aged 50-75 years with 14-year follow-up. Lifetime smoking history was obtained in detail at recruitment. We built a GRS based on 31 previously identified LC-associated single-nucleotide polymorphisms (SNPs) and a DNA methylation score (MRS) based on methylation of 151 previously identified smoking-associated cytosine-phosphate-guanine (CpG) loci. We evaluated associations of GRS and MRS with LC incidence by logistic regression models, controlling for age, sex, smoking status, and pack-years. We compared the predictive performance of models based on pack-years alone with models additionally including GRS and/or MRS using the area under the receiver operating characteristic curve (AUC), net reclassification improvement (NRI), and integrated discrimination improvement (IDI).
resultsGRS and MRS showed moderate and strong associations with LC risk even after comprehensive adjustment for smoking history (adjusted odds ratio [95% CI] comparing highest with lowest quartile 1.93 [1.05-3.71] and 5.64 [2.13-17.03], respectively). Similar associations were also observed within the risk groups of ever and heavy smokers. Addition of GRS and MRS furthermore strongly enhanced LC prediction beyond prediction by pack-years (increase of optimism-corrected AUC among heavy smokers from 0.605 to 0.654, NRI 26.7%, p = 0.0106, IDI 3.35%, p = 0.0036), the increase being mostly attributable to the inclusion of MRS.
conclusionsConsideration of MRS, by itself or in combination with GRS, may strongly enhance LC risk stratification.
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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.