Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Autor: Arthur W. Musk, John P. Kemp, Ioanna Ntalla, Igor Rudan, Suzanne Miller, Anubha Mahajan, Samuli Ripatti, Nicholas J. Wareham, Alan F. Wright, Jennie Hui, Jing Hua Zhao, Jonathan Marten, Olli T. Raitakari, Henry Voelzke, John Beilby, John M. Starr, Robert A. Scott, Harry Campbell, Ma'en Obeidat, Deborah Jarvis, David C. Nickle, Markku Heliövaara, Nick Shrine, Lars Lind, David M. Evans, Richard Hubbard, John Henderson, Ozren Polasek, Panos Deloukas, James F. Wilson, María Soler Artigas, Ian P. Hall, Jennifer E. Huffman, Juan R. González, Joachim Heinrich, Mika Kähönen, Tim D. Spector, Neil C. Thomson, Christopher J Hammond, Marjo-Riitta Järvelin, Erik Ingelsson, Stefan Enroth, Ida Surakka, Andrew P. Morris, Ivana Kolcic, Louise V. Wain, Sarah H. Wild, Lynne J. Hocking, Wendy L. McArdle, Rajesh Rawal, Nina Hutri-Kähönen, Tatijana Zemunik, Åsa Johansson, Terho Lehtimäki, Christian Gieger, Veronique Vitart, Erik Melén, Sarah E. Harris, Medea Imboden, Holly Trochet, Momoko Horikoshi, Don D. Sin, Ian J. Deary, Pau Navarro, Alexessander Couto Alves, Ashok Kumar, Abdul Kader Kheirallah, Caroline Hayward, Stefan Karrasch, Alan James, Alexander Teumer, Ulf Gyllensten, Victoria E. Jackson, Eleftheria Zeggini, Ian D. Pavord, Holger Schulz, Anna-Liisa Hartikainen, Ana Viñuela, Anna Hansell, Nicole Probst-Hensch, Leo-Pekka Lyytikäinen, Pirro G. Hysi, Ian Sayers, Jonathan Marchini, Claudia Flexeder, David P. Strachan, Martin D. Tobin, Raquel Granell, Beate Stubbe, Corry-Anke Brandsma, Sven Glaeser, Janina S. Ried, Eva Albrecht, Yohan Bossé, Peter K. Joshi, Lorna M. Lopez, Sandosh Padmanabhan, Harald Grallert
Přispěvatelé: Medical Research Council (MRC), Groningen Research Institute for Asthma and COPD (GRIAC), Institute for Molecular Medicine Finland, Clinicum, Department of Public Health, Biostatistics Helsinki, Complex Disease Genetics
Rok vydání: 2015
Předmět:
Lung Diseases
Male
Vital capacity
UK BiLEVE
General Physics and Astronomy
Genome-wide association study
0302 clinical medicine
Missing heritability problem
MISSING HERITABILITY
Forced Expiratory Volume
Genotype
SEQUENCE VARIANTS
WIDE ASSOCIATION
SUSCEPTIBILITY LOCUS
Lung
GENE-EXPRESSION
Genetics
Aged
80 and over
0303 health sciences
ARCHITECTURE
Multidisciplinary
Middle Aged
Aparell respiratori
3. Good health
ddc
Multidisciplinary Sciences
Science & Technology - Other Topics
Female
Adult
European Continental Ancestry Group
Biology
OBSTRUCTIVE PULMONARY-DISEASE
Polymorphism
Single Nucleotide
White People
Article
General Biochemistry
Genetics and Molecular Biology
03 medical and health sciences
FEV1/FVC ratio
Young Adult
MD Multidisciplinary
Humans
SMOKING-BEHAVIOR
1000 Genomes Project
Genetik
METAANALYSIS
030304 developmental biology
Aged
Science & Technology
spirometry
lung function
genetics
ta1184
General Chemistry
ta3121
Heritability
030228 respiratory system
3121 General medicine
internal medicine and other clinical medicine
Pulmons
FORCED VITAL CAPACITY
Imputation (genetics)
Genètica
Genome-Wide Association Study
Zdroj: Nature Communications, 6:8658. Nature Publishing Group
Artigas, M S, Wain, L V, Miller, S, Kheirallah, A K, Huffman, J E, Ntalla, I, Shrine, N, Obeidat, M, Trochet, H, McArdle, W L, Alves, A C, Hui, J, Zhao, J H, Joshi, P K, Teumer, A, Albrecht, E, Imboden, M, Rawal, R, Lopez, L M, Marten, J, Enroth, S, Surakka, I, Polasek, O, Lyytikäinen, L-P, Granell, R, Hysi, P G, Flexeder, C, Mahajan, A, Beilby, J, Bossé, Y, Brandsma, C-A, Campbell, H, Gieger, C, Gläser, S, González, J R, Grallert, H, Hammond, C J, Harris, S E, Hartikainen, A-L, Henderson, J, Navarro, P, Starr, J M, Wild, S H, Wright, A F, Vitart, V, Rudan, I, Deary, I J, Wilson, J F & Morris, A P & Hayward, C 2015, ' Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation ', Nature Communications, vol. 6, pp. 8658 . https://doi.org/10.1038/ncomms9658
Nature Communications
Artigas, M S, Wain, L V, Miller, S, Kheirallah, A K, Huffman, J E, Ntalla, I, Shrine, N, Obeidat, M, Trochet, H, McArdle, W L, Alves, A C, Hui, J, Zhao, J H, Joshi, P K, Teumer, A, Albrecht, E, Imboden, M, Rawal, R, Lopez, L M, Marten, J, Enroth, S, Surakka, I, Polasek, O, Lyytikäinen, L P, Granell, R, Hysi, P G, Flexeder, C, Mahajan, A, Beilby, J, Bossé, Y, Brandsma, C A, Campbell, H, Gieger, C, Gläser, S, González, J R, Grallert, H, Hammond, C J, Harris, S E, Hartikainen, A L, Heliövaara, M, Henderson, J, Hocking, L, Horikoshi, M, Hutri-Kähönen, N, Ingelsson, E, Johansson, Å, Kemp, J P, Kolcic, I, Kumar, A, Lind, L, Melén, E, Musk, A W, Navarro, P, Nickle, D C, Padmanabhan, S, Raitakari, O T, Ried, J S, Ripatti, S, Schulz, H, Scott, R A, Sin, D D, Starr, J M, Viñuela, A, Völzke, H, Wild, S H, Wright, A F, Zemunik, T, Jarvis, D L, Spector, T D, Evans, D M, Lehtimäki, T, Vitart, V, Kähönen, M, Gyllensten, U, Rudan, I, Deary, I J, Karrasch, S, Probst-Hensch, N M, Heinrich, J, Stubbe, B, Wilson, J F, Wareham, N J, James, A L, Morris, A P, Jarvelin, M R, Hayward, C, Sayers, I, Strachan, D P, Hall, I P, Tobin, M D, Deloukas, P, Hansell, A L, Hubbard, R, Jackson, V E, Marchini, J, Pavord, I, Thomson, N C & Zeggini, E 2015, ' Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation ', Nature Communications, vol. 6, 89658 . https://doi.org/10.1038/ncomms9658
ISSN: 2041-1723
Popis: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P
Genetic and environmental factors impact on lung function, important in the diagnosis of pulmonary diseases. Here the authors use imputation of genotypes to the 1000 Genomes Project reference panel to identify novel, low frequency variants associated with lung function.
Databáze: OpenAIRE
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