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

Cited 92 time in Web of Science Cited 92 time in Scopus
Authors
Loth, Daan W.; Artigas, Maria Soler; Gharib, Sina A.; Wain, Louise V.; Franceschini, Nora; Koch, Beate; Pottinger, Tess D.; Smith, Albert Vernon; Duan, Qing; Oldmeadow, Chris; Lee, Mi Kyeong; Dupuis, Josée; Kaprio, Jaakko; Loehr, Laura R.; Wang, Xin-Qun; Lederer, David J.; Alves, Alexessander Couto; Gläser, Sven; Ingelsson, Erik; Surakka, Ida; Launer, Lenore J.; Hysi, Pirro G.; Trochet, Holly; Tang, Wenbo; Williams, O Dale; Hui, Jennie; Morris, Andrew P.; Lopez, Lorna M.; Harris, Tamara B.; Flexeder, Claudia; Enroth, Stefan; Morrison, Alanna C.; Psaty, Bruce M.; Fornage, Myriam; Deary, Ian J.; Cassano, Patricia A.; North, Kari E.; Hastie, Nicholas D.; Omenaas, Ernst; Wilk, Jemma B.; Gu, Xiangjun; Manichaikul, Ani; Wojczynski, Mary; Liu, Yongmei; Joshi, Peter K.; Kumar, Rajesh; Brusselle, Guy G.; Li, Guo; Sung, Joohon; Jarvelin, Marjo-Riitta; Lahousse, Lies; Wild, Sarah H.; Kritchevsky, Stephen B.; Rich, Stephen S,; Scotland, Generation; Holliday, Elizabeth G.; Scott, Robert A.; Heinrich, Joachim; Eiriksdottir, Gudny; Lumley, Thomas; Barr, R Graham; Stricker, Bruno H.; Melén, Erik; Campbell, Susan; Verhamme, Fien M.; Joubert, Bonnie R.; Davies, Gail; Gieger, Christian; Pouta, Anneli; Gao, Wei; Campbell, Harry; Lind, Lars; Hayward, Caroline; Pietiläinen, Kirsi H.; Gudnason, Vilmundur; London, Stephanie J.; Schulz, Holger; Vonk, Judith M.; Postma, Dirkje S.; Spector, Timothy D.; Zemunik, Tatijana; Wareham, Nicholas J.; Heliövaara, Markku; Hofman, Albert; Zgaga, Lina; Hampel, Regina; Lohman, Kurt; Rivadeneira, Fernando; Minster, Ryan L.; Hiemstra, Pieter S.; Rotter, Jerome I.; White, Wendy B.; Thyagarajan, Bharat; Kolcic, Ivana; Gyllensten, Ulf; Pekkanen, Juha; Aspelund, Thor; Sayers, Ian; Newman, Anne; Smith, Lewis J.; Porteous, David J.; McArdle, Wendy L.; Völzke, Henry; Huffman, Jennifer E.; Hall, Ian P.; Couper, David; Navarro, Pau; Grallert, Harald; Lange, Leslie A.; Rantanen, Taina; Peters, Marjolein J.; Wilson, James F.; Gaddis, Nathan C.; Beilby, John; Albrecht, Eva; Viljanen, Anne; Burchard, Esteban G.; Uitterlinden, André G.; Garcia, Melissa; Kim, De Jong; Smith, Blair H.; James, Alan L.; Viñuela, Ana; Wijmenga, Cisca; Redline, Susan; Jarvis, Deborah L.; O'Connor, George T.; Ramasamy, Adaikalavan; Sood, Akshay; Musk, A Bill; Burkart, Kristin M.; Ripatti, Samuli; Teumer, Alexander; Hansel, Nadia; Tobin, Martin D.; Heckbert, Susan R.; Rudan, Igor; Boezen, H Marike; Zhao, Jing Hua; Scott, Rodney J .; Fall, Tove; van Meurs, Joyce B. J.; Attia, John R.; Karrasch, Stefan; Rudnicka, Alicja R.; Hancock, Dana B.; Oh, Yeon-Mok; Starr, John M.; Wjst, Matthias; Petrini, Marcy F.; Kim, Woo Jin; Pin, Isabelle; Polasek, Ozren; Strachan, David P.; Johansson, Åsa; Bracke, Ken R.; Kähönen, Mika; Wright, Alan F.; Vitart, Veronique; Hammond, Christopher J.
Issue Date
2014-07
Publisher
Nature Publishing Group
Citation
Nature Genetics, Vol.46 No.1, pp. 669-677
Keywords
복합학
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 x 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.
ISSN
1061-4036
Language
English
URI
https://hdl.handle.net/10371/93554
DOI
https://doi.org/10.1038/ng.3011
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Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Journal Papers (저널논문_보건학과)
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