A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences
Open accessAbstract
Using Icelandic whole-genome sequence data and an imputation approach we searched for rare sequence variants in CHRNA4 and tested them for association with nicotine dependence. We show that carriers of a rare missense variant (allele frequency=0.24%) within CHRNA4, encoding an R336C substitution, have greater risk of nicotine addiction than non-carriers as assessed by the Fagerstrom Test for Nicotine Dependence (P=1.2 × 10(-4)). The variant also confers risk of several serious smoking-related diseases previously shown to be associated with the D398N substitution in CHRNA5. We observed odds ratios (ORs) of 1.7-2.3 for lung cancer (LC; P=4.0 × 10(-4)), chronic obstructive pulmonary disease (COPD; P=9.3 × 10(-4)), peripheral artery disease (PAD; P=0.090) and abdominal aortic aneurysms (AAAs; P=0.12), and the variant associates strongly with the early-onset forms of LC (OR=4.49, P=2.2 × 10(-4)), COPD (OR=3.22, P=2.9 × 10(-4)), PAD (OR=3.47, P=9.2 × 10(-3)) and AAA (OR=6.44, P=6.3 × 10(-3)). Joint analysis of the four smoking-related diseases reveals significant association (P=6.8 × 10(-5)), particularly for early-onset cases (P=2.1 × 10(-7)). Our results are in agreement with functional studies showing that the human α4β2 isoform of the channel containing R336C has less sensitivity for its agonists than the wild-type form following nicotine incubation.
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Gene discovery for tobacco and alcohol use has been difficult.
“They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6–11.”
From Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2019) · cites this paper as [8]
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- Authors
- Thorgeirsson, T. E., Steinberg, S., Reginsson, G. W., Bjornsdottir, G., Rafnar, T., Jonsdottir, I., Helgadottir, A., Gretarsdottir, S., Helgadottir, H., Jonsson, S., Matthiasson, S. E., Gislason, T., Tyrfingsson, T., Gudbjartsson, T., Isaksson, H. J., Hardardottir, H., Sigvaldason, A., Kiemeney, L. A., Haugen, A., Zienolddiny, S., Wolf, H. J., Franklin, W. A., Panadero, A., Mayordomo, J. I., Hall, I. P., Rönmark, E., Lundbäck, B., Dirksen, A., Ashraf, H., Pedersen, J. H., Masson, G., Sulem, P., Thorsteinsdottir, U., Gudbjartsson, D. F., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- National University Hospital of Iceland (IS)
- Radboud University Medical Center (NL)
- National Institute of Occupational Health (NO)
- Colorado School of Public Health (US)
- University of Colorado Denver (US)
- University of Colorado Anschutz (US)
- University of Nottingham (GB)
- Sunderby sjukhus (SE)
- University of Copenhagen (DK)
- Corresponding author
- Thorgeirsson, T E
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2016-03-08
- Volume
- 21
- Issue
- 5
- Pages
- 594-600
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC5414061
- OpenAlex
- W2295282729
- Cited by
- 33
- References
- 35
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 5 · 2017: 7 · 2016: 2 · 2015: 1
- FWCI
- 4.29
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Psychiatry (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Repository@Nottingham (University of Nottingham) (publishedVersion, cc-by)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by-nc-nd)
- Repository@Nottingham (University of Nottingham) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- KTH Publication Database DiVA (KTH Royal Institute of Technology) (submittedVersion, other-oa)
- Nottingham ePrints (University of Nottingham) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- NORA - Norwegian Open Research Archives (submittedVersion, other-oa)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- National Institutes of Health
- National Institute on Drug Abuse (DA017932, R01DA017932)
- Topics
- Health Sciences › Medicine › Physiology › Smoking Behavior and Cessation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nicotinic Acetylcholine Receptors Study
- Keywords
- CHRNA4, rare variants, nicotine dependence, smoking behavior, lung cancer, chronic obstructive pulmonary disease, peripheral arterial disease, abdominal aortic aneurysm, early-onset disease, α4β2 nicotinic acetylcholine receptor, smoking-related diseases
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Humans, Iceland, Lung Neoplasms, Male, Middle Aged, Receptors, Nicotinic, Smoking, Tobacco Use Disorder, Aortic Aneurysm, Abdominal, Genetic Predisposition to Disease, Mutation, Missense, Pulmonary Disease, Chronic Obstructive, White People, Young Adult, Genetic Association Studies, Peripheral Arterial Disease
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