Genome-wide association analysis identifies six new loci associated with forced vital capacity
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 addit...
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| Format: | Article |
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Nature Publishing Group
2014
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| Online Access: | https://eprints.nottingham.ac.uk/32637/ |
| _version_ | 1848794454590226432 |
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| author | 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. London, Stephanie J. |
| author_facet | 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. London, Stephanie J. |
| author_sort | Loth, Daan W. |
| building | Nottingham Research Data Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T19:16:27Z |
| format | Article |
| id | nottingham-32637 |
| institution | University of Nottingham Malaysia Campus |
| institution_category | Local University |
| last_indexed | 2025-11-14T19:16:27Z |
| publishDate | 2014 |
| publisher | Nature Publishing Group |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | nottingham-326372020-05-04T20:13:58Z https://eprints.nottingham.ac.uk/32637/ 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. London, Stephanie J. 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. Nature Publishing Group 2014-07 Article PeerReviewed 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 Genetics research Genome-wide association studies Population genetics Respiratory tract diseases http://dx.doi.org/10.1038/ng.3011 doi:10.1038/ng.3011 doi:10.1038/ng.3011 |
| spellingShingle | Genetics research Genome-wide association studies Population genetics Respiratory tract diseases 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. London, Stephanie J. Genome-wide association analysis identifies six new loci associated with forced vital capacity |
| title | Genome-wide association analysis identifies six new loci associated with forced vital capacity |
| title_full | Genome-wide association analysis identifies six new loci associated with forced vital capacity |
| title_fullStr | Genome-wide association analysis identifies six new loci associated with forced vital capacity |
| title_full_unstemmed | Genome-wide association analysis identifies six new loci associated with forced vital capacity |
| title_short | Genome-wide association analysis identifies six new loci associated with forced vital capacity |
| title_sort | genome-wide association analysis identifies six new loci associated with forced vital capacity |
| topic | Genetics research Genome-wide association studies Population genetics Respiratory tract diseases |
| url | https://eprints.nottingham.ac.uk/32637/ https://eprints.nottingham.ac.uk/32637/ https://eprints.nottingham.ac.uk/32637/ |