PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Hancock, D.B.* ; Artigas, M.S.* ; Gharib, S.A.* ; Henry, A.* ; Manichaikul, A.* ; Ramasamy, A.* ; Loth, D.W.* ; Imboden, M.* ; Koch, B.* ; McArdle, W.L.* ; Smith, A.V.* ; Smolonska, J.* ; Sood, A.* ; Tang, W.* ; Wilk, J.B.* ; Zhai, G.* ; Zhao, J.H.* ; Aschard, H.* ; Burkart, K.M.* ; Curjuric, I.* ; Eijgelsheim, M.* ; Elliott, P.* ; Gu, X.* ; Harris, T.B.* ; Janson, C.* ; Homuth, G.* ; Hysi, P.G.* ; Liu, J.Z.* ; Loehr, L.R.* ; Lohman, K.* ; Loos, R.J.* ; Manning, A.K.* ; Marciante, K.D.* ; Obeidat, M.* ; Postma, D.S.* ; Aldrich, M.C.* ; Brusselle, G.G.* ; Chen, T.H.* ; Eiriksdottir, G.* ; Franceschini, N.* ; Heinrich, J. ; Rotter, J.I.* ; Wijmenga, C.* ; Williams, O.D.* ; Bentley, A.R.* ; Hofman, A.* ; Laurie, C.C.* ; Lumley, T.* ; Morrison, A.C.* ; Joubert, B.R.* ; Rivadeneira, F.* ; Couper, D.J.* ; Kritchevsky, S.B.* ; Liu, Y.* ; Wjst, M. ; Wain, L.V.* ; Vonk, J.M.* ; Uitterlinden, A.G.* ; Rochat, T.* ; Rich, S.S.* ; Psaty, B.M.* ; O'Connor, G.T.* ; North, K.E.* ; Mirel, D.B.* ; Meibohm, B.* ; Launer, L.J.* ; Khaw, K.T.* ; Hartikainen, A.L.* ; Hammond, C.J.* ; Gläser, S.* ; Marchini, J.* ; Kraft, P.* ; Wareham, N.J.* ; Völzke, H.* ; Stricker, B.H.* ; Spector, T.D.* ; Probst-Hensch, N.M.* ; Jarvis, D.* ; Jarvelin, M.R.* ; Heckbert, S.R.* ; Gudnason, V.* ; Boezen, H.M.* ; Barr, R.G.* ; Cassano, P.A.* ; Strachan, D.P.* ; Fornage, M.* ; Hall, I.P.* ; Dupuis, J.* ; Tobin, M.D.* ; London, S.J.*

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

PLoS Genet. 8:e1003098 (2013)
Verlagsversion Volltext DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Genome-wide association studies have identified numerous genetic loci for spirometic measures of pulmonary function, forced expiratory volume in one second (FEV(1)), and its ratio to forced vital capacity (FEV(1)/FVC). Given that cigarette smoking adversely affects pulmonary function, we conducted genome-wide joint meta-analyses (JMA) of single nucleotide polymorphism (SNP) and SNP-by-smoking (ever-smoking or pack-years) associations on FEV(1) and FEV(1)/FVC across 19 studies (total N = 50,047). We identified three novel loci not previously associated with pulmonary function. SNPs in or near DNER (smallest P(JMA = )5.00×10(-11)), HLA-DQB1 and HLA-DQA2 (smallest P(JMA = )4.35×10(-9)), and KCNJ2 and SOX9 (smallest P(JMA = )1.28×10(-8)) were associated with FEV(1)/FVC or FEV(1) in meta-analysis models including SNP main effects, smoking main effects, and SNP-by-smoking (ever-smoking or pack-years) interaction. The HLA region has been widely implicated for autoimmune and lung phenotypes, unlike the other novel loci, which have not been widely implicated. We evaluated DNER, KCNJ2, and SOX9 and found them to be expressed in human lung tissue. DNER and SOX9 further showed evidence of differential expression in human airway epithelium in smokers compared to non-smokers. Our findings demonstrated that joint testing of SNP and SNP-by-environment interaction identified novel loci associated with complex traits that are missed when considering only the genetic main effects.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
8.694
1.803
109
109
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Gene-environment Interaction ; Air-flow Obstruction ; Smooth-muscle-cells ; Class-ii Antigens ; Body-mass Index ; Rheumatoid-arthritis ; Signaling Controls ; Common Variants ; Lung-function ; Epic-norfolk
Sprache englisch
Veröffentlichungsjahr 2013
Prepublished im Jahr 2012
HGF-Berichtsjahr 2012
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Zeitschrift PLoS Genetics
Quellenangaben Band: 8, Heft: 12, Seiten: , Artikelnummer: e1003098 Supplement: ,
Verlag Public Library of Science (PLoS)
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
Institute of Lung Health and Immunity (LHI)
POF Topic(s) 30503 - Chronic Diseases of the Lung and Allergies
30202 - Environmental Health
Forschungsfeld(er) Genetics and Epidemiology
Lung Research
PSP-Element(e) G-503900-001
G-505000-003
PubMed ID 23284291
DOI 10.1371/journal.pgen.1003098
WOS ID WOS:000312905600013
Scopus ID 84872034012
Erfassungsdatum 2012-12-31
[➜Korrektur melden]