Loth Daan W, Soler Artigas María, 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 Asa, 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, London Stephanie J
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.