Genome-wide association analysis identifies six new loci associated with forced vital capacity

Loth, Daan W., Artigas, María Soler, Gharib, Sina A., Wain, Louise V., Franceschini, Nora, Koch, Beate, Pottinger, Tess D., Smith, Albert Vernon, Duan, Qing, Oldmeadow, Chris, Lee, Mi Kyeong, Strachan, David P., James, Alan L., Huffman, Jennifer E., Vitart, Veronique, Ramasamy, Adaikalavan, Wareham, Nicholas J., Kaprio, Jaakko, Wang, Xin-Qun, Trochet, Holly, Kähönen, Mika, Flexeder, Claudia, Albrecht, Eva, Lopez, Lorna M., de Jong, Kim, Thyagarajan, Bharat, Alves, Alexessander Couto, Enroth, Stefan, Omenaas, Ernst, Joshi, Peter K., Fall, Tove, Viñuela, Ana, Launer, Lenore J., Loehr, Laura R., Fornage, Myriam, Li, Guo, Wilk, Jemma B., Tang, Wenbo, Manichaikul, Ani, Lahousse, Lies, Harris, Tamara B., North, Kari E., Rudnicka, Alicja R., Hui, Jennie, Gu, Xiangjun, Lumley, Thomas, Wright, Alan F., Hastie, Nicholas D., Campbell, Susan, Kumar, Rajesh, Pin, Isabelle, Scott, Robert A., Pietiläinen, Kirsi H., Surakka, Ida, Liu, Yongmei, Holliday, Elizabeth G., Schulz, Holger, Heinrich, Joachim, Davies, Gail, Vonk, Judith M., Wojczynski, Mary, Pouta, Anneli, Johansson, Åsa, Wild, Sarah H., Ingelsson, Erik, Rivadeneira, Fernando, Völzke, Henry, Hysi, Pirro G., Eiriksdottir, Gudny, Morrison, Alanna C., Rotter, Jerome I., Gao, Wei, Postma, Dirkje S., White, Wendy B., Rich, Stephen S., Hofman, Albert, Aspelund, Thor, Couper, David, Smith, Lewis J., Psaty, Bruce M., Lohman, Kurt, Burchard, Esteban G., Uitterlinden, André G., Garcia, Melissa, Joubert, Bonnie R., McArdle, Wendy L., Musk, A Bill, Hansel, Nadia, Heckbert, Susan R., Zgaga, Lina, van Meurs, Joyce B.J., Navarro, Pau, Rudan, Igor, Oh, Yeon-Mok, Redline, Susan, Jarvis, Deborah L., Zhao, Jing Hua, Rantanen, Taina, O'Connor, George T., Ripatti, Samuli, Scott, Rodney J., Karrasch, Stefan, Grallert, Harald, Gaddis, Nathan C., Starr, John M., Wijmenga, Cisca, Minster, Ryan L., Lederer, David J., Pekkanen, Juha, Gyllensten, Ulf, Campbell, Harry, Morris, Andrew P., Gläser, Sven, Hammond, Christopher J., Burkart, Kristin M, Beilby, John, Kritchevsky, Stephen B., Gudnason, Vilmundur, Hancock, Dana B., Williams, O Dale, Polasek, Ozren, Zemunik, Tatijana, Kolcic, Ivana, Petrini, Marcy F., Wjst, Matthias, Kim, Woo Jin, Porteous, David J., Smith, Blair H., Viljanen, Anne, Heliövaara, Markku, Attia, John R., Sayers, Ian, Hampel, Regina, Gieger, Christian, Deary, Ian J, Boezen, H. Marike, Newman, Anne, Jarvelin, Marjo-Riitta, Wilson, James F, Lind, Lars, Stricker, Bruno H., Teumer, Alexander, Spector, Timothy D., Melén, Erik, Peters, Marjolein J., Lange, Leslie A., Barr, R. Graham, Bracke, Ken R., Verhamme, Fien M., Sung, Joohon, Hiemstra, Pieter S., Cassano, Patricia A., Sood, Akshay, Hayward, Caroline, Dupuis, Josée, Hall, Ian P., Brusselle, Guy G., Tobin, Martin D. and London, Stephanie J. (2014) Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nature Genetics, 46 (7). pp. 669-677. ISSN 1546-1718

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Abstract

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.

Item Type: Article
RIS ID: https://nottingham-repository.worktribe.com/output/995024
Keywords: Genetics research, Genome-wide association studies, Population genetics, Respiratory tract diseases
Schools/Departments: University of Nottingham, UK > Faculty of Medicine and Health Sciences > School of Medicine > Division of Respiratory Medicine
Identification Number: https://doi.org/10.1038/ng.3011
Depositing User: Eprints, Support
Date Deposited: 05 Apr 2016 10:00
Last Modified: 04 May 2020 20:13
URI: https://eprints.nottingham.ac.uk/id/eprint/32637

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