@article{dc3a3b99fee148ec8090dd2fccb06f0a,
title = "Genome-wide association study identifies five loci associated with lung function",
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 (FEV(1)) and the ratio of FEV(1) 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 <or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n <or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 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.",
keywords = "Female, Forced Expiratory Volume, Gene Expression Profiling, Genome, Human, Genome-Wide Association Study, Glutathione Transferase, Humans, Lung, Male, Meta-Analysis as Topic, Microfilament Proteins, Polymorphism, Single Nucleotide, Pulmonary Disease, Chronic Obstructive, RNA, Messenger, Receptors, Immunologic, Receptors, Serotonin, 5-HT4, Respiratory Function Tests, Spirometry, Thrombospondins, Vital Capacity",
author = "{Wellcome Trust Case Control Consortium} and Emmanouela Repapi and Ian Sayers and Wain, {Louise V} and Burton, {Paul R} and Toby Johnson and Ma'en Obeidat and Zhao, {Jing Hua} and Adaikalavan Ramasamy and Guangju Zhai and Veronique Vitart and Huffman, {Jennifer E} and Wilmar Igl and Eva Albrecht and Panos Deloukas and John Henderson and Raquel Granell and McArdle, {Wendy L} and Rudnicka, {Alicja R} and In{\^e}s Barroso and Loos, {Ruth J F} and Wareham, {Nicholas J} and Linda Mustelin and Taina Rantanen and Ida Surakka and Medea Imboden and Wichmann, {H Erich} and Ivica Grkovic and Stipan Jankovic and Lina Zgaga and Anna-Liisa Hartikainen and Leena Peltonen and Ulf Gyllensten and Asa Johansson and Ghazal Zaboli and Harry Campbell and Wild, {Sarah H} and Wilson, {James F} and Sven Gl{\"a}ser and Georg Homuth and Henry V{\"o}lzke and Massimo Mangino and Nicole Soranzo and Spector, {Tim D} and Ozren Polasek and Igor Rudan and Alan Wright and MacLeod, {Andrew K} and Andrew Morris and Porteous, {David J} and Caroline Hayward",
year = "2010",
month = jan,
doi = "10.1038/ng.501",
language = "English",
volume = "42",
pages = "36--44",
journal = "Nature Genetics",
publisher = "Nature Publishing Group",
number = "1",
}