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

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

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,...

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Main 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.
Format: Article
Published: Nature Publishing Group 2016
Online Access:https://eprints.nottingham.ac.uk/44362/

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