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

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Fältnamn	Indikatorer	Metadata
000		05838naa a2201009 4500
001		oai:gup.ub.gu.se/236906
003		SwePub
008		240528s2016 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:DiVA.org:umu-120800
024	7	a https://gup.ub.gu.se/publication/2369062 URI
024	7	a https://doi.org/10.1038/mp.2016.132 DOI
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1208002 URI
040		a (SwePub)gud (SwePub)umu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Thorgeirsson, T. E.4 aut
245	1 0	a A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences
264		c 2016-03-08
264	1	b Springer Science and Business Media LLC,c 2016
520		a 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 x 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 x 10(-4)), chronic obstructive pulmonary disease (COPD; P = 9.3 x 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 x 10(-4)), COPD (OR = 3.22, P = 2.9 x 10(-4)), PAD (OR = 3.47, P = 9.2 x 10(-3)) and AAA (OR = 6.44, P = 6.3 x 10(-3)). Joint analysis of the four smoking-related diseases reveals significant association (P = 6.8 x 10(-5)), particularly for early-onset cases (P = 2.1 x 10(-7)). Our results are in agreement with functional studies showing that the human alpha 4 beta 2 isoform of the channel containing R336C has less sensitivity for its agonists than the wild-type form following nicotine incubation.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
650	7	a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe
650	7	a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a nicotinic acetylcholine-receptors
653		a genome-wide association
653		a lung-cancer
653		a pharmacological chaperone
653		a susceptibility locus
653		a sequence variants
653		a fagerstrom test
653		a heavy smoking
653		a dependence
653		a smokers
653		a Biochemistry & Molecular Biology
653		a Neurosciences & Neurology
653		a Psychiatry
700	1	a Steinberg, S.4 aut
700	1	a Reginsson, G. W.4 aut
700	1	a Bjornsdottir, G.4 aut
700	1	a Rafnar, T.4 aut
700	1	a Jonsdottir, I.4 aut
700	1	a Helgadottir, A.4 aut
700	1	a Gretarsdottir, S.4 aut
700	1	a Helgadottir, H.4 aut
700	1	a Jonsson, S.4 aut
700	1	a Matthiasson, S. E.4 aut
700	1	a Gislason, T.4 aut
700	1	a Tyrfingsson, T.4 aut
700	1	a Gudbjartsson, T.4 aut
700	1	a Isaksson, H. J.4 aut
700	1	a Hardardottir, H.4 aut
700	1	a Sigvaldason, A.4 aut
700	1	a Kiemeney, L. A.4 aut
700	1	a Haugen, A.4 aut
700	1	a Zienolddiny, S.4 aut
700	1	a Wolf, H. J.4 aut
700	1	a Franklin, W. A.4 aut
700	1	a Panadero, A.4 aut
700	1	a Mayordomo, J. I.4 aut
700	1	a Hall, I. P.4 aut
700	1	a Rönmark, Evau Umeå universitet,Yrkes- och miljömedicin,The OLIN studies, Department of Medicine, Sunderby Central Hospital of Norrbotten, Luleå, Sweden4 aut0 (Swepub:umu)evra0004
700	1	a Lundbäck, Bo,d 1948u Gothenburg University,Göteborgs universitet,Krefting Research Centre4 aut0 (Swepub:gu)xlunbo
700	1	a Dirksen, A.4 aut
700	1	a Ashraf, H.4 aut
700	1	a Pedersen, J. H.4 aut
700	1	a Masson, G.4 aut
700	1	a Sulem, P.4 aut
700	1	a Thorsteinsdottir, U.4 aut
700	1	a Gudbjartsson, D. F.4 aut
700	1	a Stefansson, K.4 aut
710	2	a Umeå universitetb Yrkes- och miljömedicin4 org
773	0	t Molecular Psychiatryd : Springer Science and Business Media LLCg 21:5, s. 594-600q 21:5<594-600x 1359-4184x 1476-5578
856	4	u https://www.nature.com/articles/mp201613.pdf
856	4	u https://doi.org/10.1038/mp.2016.13y Fulltext
856	4	u https://umu.diva-portal.org/smash/get/diva2:930973/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4 8	u https://gup.ub.gu.se/publication/236906
856	4 8	u https://doi.org/10.1038/mp.2016.13
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-120800

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Psychiatry

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