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A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.

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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
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Issue Date
2016-05

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A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences. 2016, 21 (5):594-600 Mol. Psychiatry
Abstract
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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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
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http://dx.doi.org/ 10.1038/mp.2016.13
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Archived with thanks to Molecular psychiatry
ae974a485f413a2113503eed53cd6c53
10.1038/mp.2016.13
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