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Title: Genome-wide association study identifies five loci associated with lung function
Authors: Repapi, Emmanouela
Sayers, Ian
Wain, Louise V.
Burton, Paul R.
Johnson, Toby
Obeidat, Ma'en
Zhao, Jing Hua
Ramasamy, Adaikalavan
Zhai, Guangju
Vitart, Veronique
Huffman, Jennifer E.
Igl, Wilmar
Albrecht, Eva
Deloukas, Panos
Henderson, John
Granell, Raquel
McArdle, Wendy L.
Rudnicka, Alicja R.
Wellcome Trust Case Control Consortium
Barroso, Inês
Loos, Ruth J.F.
Wareham, Nicholas J.
Mustelin, Linda
Rantanen, Taina
Surakka, Ida
Imboden, Medea
Wichmann, H.-Erich
Grkovic, Ivica
Jankovic, Stipan
Zgaga, Lina
Hartikainen, Anna-Liisa
Peltonen, Leena
Gyllensten, Ulf
Johansson, Åsa
Zaboli, Ghazal
Campbell, Harry
Wild, Sarah H.
Wilson, James F.
Gläser, Sven
Homuth, Georg
Völzke, Henry
Mangino, Massimo
Soranzo, Nicole
Spector, Tim D.
Polašek, Ozren
Rudan, Igor
Wright, Alan F.
Heliövaara, Markku
Ripatti, Samuli
Pouta, Anneli
Naluai, Åsa Torinsson
Olin, Anna-Carin
Torén, Kjell
Cooper, Matthew N.
James, Alan L.
Palmer, Lyle J.
Hingorani, Aroon D.
Wannamethee, S. Goya
Whincup, Peter H.
Davey Smith, George
Ebrahim, Shah
McKeever, Tricia M.
Pavord, Ian D.
MacLeod, Andrew K.
Morris, Andrew D.
Porteous, David J.
Cooper, Cyrus
Dennison, Elaine
Shaheen, Seif
Karrasch, Stefan
Schnabel, Eva
Schulz, Holger
Grallert, Harald
Bouatia-Naji, Nabila
Delplanque, Jérôme
Froguel, Philippe
Blakey, John D.
NSHD Respiratory Study Team
Britton, John R.
Morris, Richard W.
Holloway, John W.
Lawlor, Debbie A.
Hui, Jennie
Nyberg, Fredrik
Jarvelin, Marjo-Riitta
Jackson, Cathy
Kähönen, Mika
Kaprio, Jaakko
Probst-Hensch, Nicole M.
Koch, Beate
Hayward, Caroline
Evans, David M.
Elliott, Paul
Strachan, David P.
Hall, Ian P.
Tobin, Martin D.
First Published: Jan-2010
Publisher: Nature Publishing Group
Citation: Nature Genetics, 2010, 42 (1), pp. 36-44.
Abstract: Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n ≤ 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n ≤ 883). We confirmed the reported locus at 4q31 and identified associations with FEV1 or FEV1/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 × 10−12), 4q24 in GSTCD (2.18 × 10−23), 5q33 in HTR4 (P = 4.29 × 10−9), 6p21 in AGER (P = 3.07 × 10−15) and 15q23 in THSD4 (P = 7.24 × 10−15). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
DOI Link: 10.1038/ng.501
ISSN: 1061-4036
Type: Article
Description: This paper was published as Nature Genetics, 2010, 42 (1), pp. 36-44. It is available from Doi: 10.1038/ng.501
Appears in Collections:Published Articles, Dept. of Health Sciences

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