Ontology highlight
ABSTRACT:
SUBMITTER: Thorgeirsson TE
PROVIDER: S-EPMC5414061 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Thorgeirsson T E TE Steinberg S S Reginsson G W GW Bjornsdottir G G Rafnar T T Jonsdottir I I Helgadottir A A Gretarsdottir S S Helgadottir H H Jonsson S S Matthiasson S E SE Gislason T T Tyrfingsson T T Gudbjartsson T T Isaksson H J HJ Hardardottir H H Sigvaldason A A Kiemeney L A LA Haugen A A Zienolddiny S S Wolf H J HJ Franklin W A WA Panadero A A Mayordomo J I JI Hall I P IP Rönmark E E Lundbäck B B Dirksen A A Ashraf H H Pedersen J H JH Masson G G Sulem P P Thorsteinsdottir U U Gudbjartsson D F DF Stefansson K K
Molecular psychiatry 20160308 5
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 di ...[more]