ArticleHuman molecular genetics2014
Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.Molecular psychiatry · 2020Pooled it
- Use of polygenic risk scores of nicotine metabolism in predicting smoking behaviors.Pharmacogenomics · 2018Pooled it
- Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.The Lancet. Respiratory medicine · 2014Pooled it
- Genetic Basis of Tobacco Use Disorder.Genes · 2026Review
- Nicotine Metabolism and Chronic Obstructive Pulmonary Disease: Mendelian Randomization and Phenotypic Characterization Analysis.International journal of chronic obstructive pulmonary disease · 2026Article
- Debiased lasso after sample splitting for estimation and inference in high-dimensional generalized linear models.The Canadian journal of statistics = Revue canadienne de statistique · 2025Article
- Biological and Genetic Mechanisms of COPD, Its Diagnosis, Treatment, and Relationship with Lung Cancer.Biomedicines · 2023Review
- Investigation of the genetic effect of 56 tobacco-smoking susceptibility genes on DNA methylation and RNA expression in human brain.Frontiers in psychiatry · 2022Article
- Sex-specific nicotine sensitization and imprinting of self-administration in rats inform GWAS findings on human addiction phenotypes.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2021Article
- White Matter Integrity and Nicotine Dependence: Evaluating Vertical and Horizontal Pleiotropy.Frontiers in neuroscience · 2021Article
- Translational Molecular Approaches in Substance Abuse Research.Handbook of experimental pharmacology · 2020Review
- Strain-specific altered nicotine metabolism in 3,3'-diindolylmethane (DIM) exposed mice.Biopharmaceutics & drug disposition · 2019Article
- The PHD1 oxygen sensor in health and disease.The Journal of physiology · 2018Review
- The Value of Biosamples in Smoking Cessation Trials: A Review of Genetic, Metabolomic, and Epigenetic Findings.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2018Review
- Human Genetics of Addiction: New Insights and Future Directions.Current psychiatry reports · 2018Review
- Preparing the Way: Exploiting Genomic Medicine to Stop Smoking.Trends in molecular medicine · 2018Review
- Significant association of the CHRNB3-CHRNA6 gene cluster with nicotine dependence in the Chinese Han population.Scientific reports · 2017Article
- Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.Cancer research · 2016Article
- Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.Molecular psychiatry · 2016Review
- Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci.Human molecular genetics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Genome-wide significant associations with cigarettes per day (CPD) and risk for lung cancer and chronic obstructive pulmonary disease (COPD) were previously reported in a region of 19q13, including CYP2A6 (nicotine metabolism enzyme) and EGLN2 (hypoxia response). The associated single nucleotide polymorphisms (SNPs) were assumed to be proxies for functional variation in CYP2A6. Here, we demonstrate that when CYP2A6 and EGLN2 genotypes are analyzed together, the key EGLN2 variant, rs3733829, is not associated with nicotine metabolism independent of CYP2A6, but is nevertheless independently associated with CPD, and with breath carbon monoxide (CO), a phenotype associated with cigarette consumption and relevant to hypoxia. SNPs in EGLN2 are also associated with nicotine dependence and with smoking efficiency (CO/CPD). These results indicate a previously unappreciated novel mechanism behind genome-wide significant associations with cigarette consumption and disease risk unrelated to nicotine metabolism.
Indexed as
Identifiers
What OpenQuestion holds
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.