Article
A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.
Molecular psychiatry - 1 May 2016
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
Abstract excerpt
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...
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