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    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, Scotland, Generation, 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 1061-4036

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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
    Keywords: genome-wide; analysis; identifies; six new loci; forced vital capacity;
    Academic Unit: Faculty of Science and Engineering > Biology
    Faculty of Science and Engineering > Research Institutes > Human Health Institute
    Item ID: 17246
    Identification Number: 10.1038/ng.3011
    Depositing User: Lorna Lopez
    Date Deposited: 29 May 2023 13:59
    Journal or Publication Title: Nature Genetics
    Publisher: Nature Research
    Refereed: Yes
    Related URLs:
    URI: https://mural.maynoothuniversity.ie/id/eprint/17246
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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