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

Loth, Daan W.; Artigas, María Soler; Soler Artigas, Maria; Gharib, Sina A.; Kaonen, Mika; Wain, Louise V.; Franceschini, Nora; Koch, Beate; Pottinger, Tess D.; Couto Alves, Alexessander; 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; Kahonen, Mika; Flexeder, Claudia; Albrecht, Eva; Lopez, Lorna M.; de Jong, Kim; Thyagarajan, Bharat; Alves, Alexessander Couto; Johansson, Åsa; Enroth, Stefan; Omenaas, Ernst; Joshi, Peter K.; Fall, Tove; Viñuela, Ana; Vinuela, Ana; Launer, Lenore J.; Loehr, Laura R.; Fornage, Myriam; Li, Guo; Wilk, Jemma B.; Tang, Wenbo; Manichaikul, Ani; Glaeser, Sven; Lahousse, Lies; Harris, Tamara B.; North, Kari E.; Rudnicka, Alicja R.; Hui, Jennie; Gu, Xiangjun; Lumley, Thomas; Wright, Alan F.; Hastie, Nicholas D.; Wik, Jemma B.; Campbell, Susan; Kumar, Rajesh; Pin, Isabelle; Scott, Robert A .; Pietiläinen, Kirsi H.; Surakka, Ida; Liu, Yongmei; Holliday, Elizabeth G.; Voezke, Henry; Schulz, Holger; Heinrich, Joachim; Davies, Gail; Vonk, Judith M.; Wojczynski, Mary; Pouta, Anneli; Johansson, Åsa; De Jong, K.; Wild, Sarah H.; Ingelsson, Erik; Rivadeneira, Fernando; Völzke, Henry; Hysi, Pirro G.; Eiriksdottir, Gudny; Morrison, Alanna C.; Rotter, Jerome I.; Bill Musk, A.; Gao, Wei; Postma, Dirkje S.; White, Wendy B.; Rich, Stephen S.; Hofman, Albert; Aspelund, Thor; Couper, David; Smith, Lewis J.; Psaty, Bruce M.; Volzke, H.; Lohman, Kurt; Burchard, Esteban G.; Uitterlinden, Andre G.; Garcia, Melissa; Joubert, Bonnie R.; McArdle, Wendy L.; Musk, A. Bill; Hansel, Nadia; Heckbert, Susan R.; Zgaga, Lina; van Meurs, Joyce Bj J.; Navarro, Pau; O’Connor, George T.; 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.; Dale Williams, O.; 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.; Campbe, Harry; Scotland, Generation; Smith, Blair H.; Viljanen, Anne; Heliövaara, Markku; Attia, John R.; Sayers, Ian; Hampel, Regina; Gieger, Christian; Deary, Ian J.; Marike Boezen, H.; Boezen, Hendrika Marike; Newman, Anne; Jarvelin, Marjo-Riitta; Wilson, James F.; Lind, Lars; Stricker, Bruno H .; Teumer, Alexander; Spector, Timothy D.; Graham Barr, R.; Melen, Erik; Peters, Marjolein J.; Lange, Leslie A.; Barr, R. Graham; Bracke, Ken R.; Verhamme, Fien M.; Sung, Joohon; Gucinason, Vilrnundur; Hiemstra, Pieter S.; Cassano, Patricia A.; Sood, Akshay; Hayward, Caroline; Dupuis, Josee; Hall, Ian P.; Brusselle, Guy G.; Tobin, Martin D.; London, Stephanie J.; Vöezke, Henry; Villanen, Anne

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Louise Wain
Loth et al., 2014

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@article{Loth2014,
  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 &lt; 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.},
  author = {Loth, Daan W. and Artigas, María Soler and Soler Artigas, Maria and Gharib, Sina A. and Kaonen, Mika and Wain, Louise V. and Franceschini, Nora and Koch, Beate and Pottinger, Tess D. and Couto Alves, Alexessander and Smith, Albert Vernon and Duan, Qing and Oldmeadow, Chris and Lee, Mi Kyeong and Strachan, David P. and James, Alan L. and Huffman, Jennifer E. and Vitart, Veronique and Ramasamy, Adaikalavan and Wareham, Nicholas J. and Kaprio, Jaakko and Wang, Xin-Qun and Trochet, Holly and Kähönen, Mika and Kahonen, Mika and Flexeder, Claudia and Albrecht, Eva and Lopez, Lorna M. and de Jong, Kim and Thyagarajan, Bharat and Alves, Alexessander Couto and Johansson, Åsa and Enroth, Stefan and Omenaas, Ernst and Joshi, Peter K. and Fall, Tove and Viñuela, Ana and Vinuela, Ana and Launer, Lenore J. and Loehr, Laura R. and Fornage, Myriam and Li, Guo and Wilk, Jemma B. and Tang, Wenbo and Manichaikul, Ani and Glaeser, Sven and Lahousse, Lies and Harris, Tamara B. and North, Kari E. and Rudnicka, Alicja R. and Hui, Jennie and Gu, Xiangjun and Lumley, Thomas and Wright, Alan F. and Hastie, Nicholas D. and Wik, Jemma B. and Campbell, Susan and Kumar, Rajesh and Pin, Isabelle and Scott, Robert A . and Pietiläinen, Kirsi H. and Surakka, Ida and Liu, Yongmei and Holliday, Elizabeth G. and Voezke, Henry and Schulz, Holger and Heinrich, Joachim and Davies, Gail and Vonk, Judith M. and Wojczynski, Mary and Pouta, Anneli and Johansson, Åsa and De Jong, K. and Wild, Sarah H. and Ingelsson, Erik and Rivadeneira, Fernando and Völzke, Henry and Hysi, Pirro G. and Eiriksdottir, Gudny and Morrison, Alanna C. and Rotter, Jerome I. and Bill Musk, A. and Gao, Wei and Postma, Dirkje S. and White, Wendy B. and Rich, Stephen S. and Hofman, Albert and Aspelund, Thor and Couper, David and Smith, Lewis J. and Psaty, Bruce M. and Volzke, H. and Lohman, Kurt and Burchard, Esteban G. and Uitterlinden, Andre G. and Garcia, Melissa and Joubert, Bonnie R. and McArdle, Wendy L. and Musk, A. Bill and Hansel, Nadia and Heckbert, Susan R. and Zgaga, Lina and van Meurs, Joyce Bj J. and Navarro, Pau and O’Connor, George T. and Rudan, Igor and Oh, Yeon-Mok and Redline, Susan and Jarvis, Deborah L. and Zhao, Jing Hua and Rantanen, Taina and O'Connor, George T. and Ripatti, Samuli and Scott, Rodney J. and Karrasch, Stefan and Grallert, Harald and Gaddis, Nathan C. and Starr, John M. and Wijmenga, Cisca and Minster, Ryan L. and Lederer, David J. and Pekkanen, Juha and Gyllensten, Ulf and Campbell, Harry and Morris, Andrew P. and Gläser, Sven and Hammond, Christopher J. and Burkart, Kristin M. and Dale Williams, O. and Beilby, John and Kritchevsky, Stephen B. and Gudnason, Vilmundur and Hancock, Dana B. and Williams, O. Dale and Polasek, Ozren and Zemunik, Tatijana and Kolcic, Ivana and Petrini, Marcy F. and Wjst, Matthias and Kim, Woo Jin and Porteous, David J. and Campbe, Harry and Scotland, Generation and Smith, Blair H. and Viljanen, Anne and Heliövaara, Markku and Attia, John R. and Sayers, Ian and Hampel, Regina and Gieger, Christian and Deary, Ian J. and Marike Boezen, H. and Boezen, Hendrika Marike and Newman, Anne and Jarvelin, Marjo-Riitta and Wilson, James F. and Lind, Lars and Stricker, Bruno H . and Teumer, Alexander and Spector, Timothy D. and Graham Barr, R. and Melen, Erik and Peters, Marjolein J. and Lange, Leslie A. and Barr, R. Graham and Bracke, Ken R. and Verhamme, Fien M. and Sung, Joohon and Gucinason, Vilrnundur and Hiemstra, Pieter S. and Cassano, Patricia A. and Sood, Akshay and Hayward, Caroline and Dupuis, Josee and Hall, Ian P. and Brusselle, Guy G. and Tobin, Martin D. and London, Stephanie J. and Vöezke, Henry and Villanen, Anne},
  doi = {10.1038/ng.3011},
  month = {jun},
  title = {Genome-wide association analysis identifies six new loci associated with forced vital capacity},
  url = {http://www.ncbi.nlm.nih.gov/pubmed/24929828},
  year = {2014}
}

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

Journal article published in 2014 by Daan W. Loth, María Soler Artigas, Maria Soler Artigas, Sina A. Gharib, Mika Kaonen, Louise V. Wain

, Nora Franceschini, Beate Koch, Tess D. Pottinger, Alexessander Couto Alves, Albert Vernon Smith

, Qing Duan, Chris Oldmeadow, Mi Kyeong Lee, David P. Strachan and other authors. Daan W. Loth, María Soler Artigas, Maria Soler Artigas, Sina A. Gharib, Mika Kaonen, Louise V. Wain

, Nora Franceschini, Beate Koch, Tess D. Pottinger, Alexessander Couto Alves, Albert Vernon Smith

, Qing Duan, Chris Oldmeadow, Mi Kyeong Lee, David P. Strachan, Alan L. James, Jennifer E. Huffman, Veronique Vitart, Adaikalavan Ramasamy, Nicholas J. Wareham, Jaakko Kaprio, Xin-Qun Wang, Holly Trochet, Mika Kähönen, Mika Kahonen, Claudia Flexeder, Eva Albrecht, Lorna M. Lopez

, Kim de Jong, Bharat Thyagarajan, Alexessander Couto Alves, Åsa Johansson, Stefan Enroth

, Ernst Omenaas, Peter K. Joshi

, Tove Fall, Ana Viñuela

, Ana Vinuela, Lenore J. Launer, Laura R. Loehr, Myriam Fornage, Guo Li, Jemma B. Wilk, Wenbo Tang, Ani Manichaikul, Sven Glaeser, Lies Lahousse

, Tamara B. Harris, Kari E. North, Alicja R. Rudnicka

, Jennie Hui, Xiangjun Gu, Thomas Lumley, Alan F. Wright, Nicholas D. Hastie, Jemma B. Wik, Susan Campbell, Rajesh Kumar, Isabelle Pin, Robert A . Scott, Kirsi H. Pietiläinen, Ida Surakka, Yongmei Liu, Elizabeth G. Holliday, Henry Voezke, Holger Schulz, Joachim Heinrich

, Gail Davies, Judith M. Vonk, Mary Wojczynski, Anneli Pouta, Åsa Johansson

, K. De Jong, Sarah H. Wild, Erik Ingelsson, Fernando Rivadeneira, Henry Völzke, Pirro G. Hysi, Gudny Eiriksdottir, Alanna C. Morrison, Jerome I. Rotter, A. Bill Musk, Wei Gao, Dirkje S. Postma, Wendy B. White, Stephen S. Rich, Albert Hofman, Thor Aspelund, David Couper, Lewis J. Smith, Bruce M. Psaty, H. Volzke, Kurt Lohman, Esteban G. Burchard, Andre G. Uitterlinden, Melissa Garcia, Bonnie R. Joubert, Wendy L. McArdle, A. Bill Musk, Nadia Hansel, Susan R. Heckbert, Lina Zgaga, Joyce Bj J. van Meurs, Pau Navarro

, George T. O’Connor, Igor Rudan

, Yeon-Mok Oh, Susan Redline, Deborah L. Jarvis, Jing Hua Zhao, Taina Rantanen, George T. O'Connor, Samuli Ripatti, Rodney J. Scott, Stefan Karrasch, Harald Grallert, Nathan C. Gaddis, John M. Starr, Cisca Wijmenga

, Ryan L. Minster, David J. Lederer

, Juha Pekkanen

, Ulf Gyllensten, Harry Campbell, Andrew P. Morris, Sven Gläser, Christopher J. Hammond

, Kristin M. Burkart, O. Dale Williams, John Beilby, Stephen B. Kritchevsky, Vilmundur Gudnason, Dana B. Hancock, O. Dale Williams, Ozren Polasek, Tatijana Zemunik, Ivana Kolcic, Marcy F. Petrini, Matthias Wjst, Woo Jin Kim, David J. Porteous, Harry Campbe, Generation Scotland, Blair H. Smith, Anne Viljanen, Markku Heliövaara, John R. Attia, Ian Sayers, Regina Hampel, Christian Gieger

, Ian J. Deary, H. Marike Boezen, Hendrika Marike Boezen, Anne Newman

, Marjo-Riitta Jarvelin, James F. Wilson, Lars Lind, Bruno H . Stricker, Alexander Teumer

, Timothy D. Spector, R. Graham Barr, Erik Melen, Marjolein J. Peters, Leslie A. Lange, R. Graham Barr, Ken R. Bracke, Fien M. Verhamme, Joohon Sung, Vilrnundur Gucinason, Pieter S. Hiemstra, Patricia A. Cassano, Akshay Sood, Caroline Hayward, Josee Dupuis, Ian P. Hall, Guy G. Brusselle, Martin D. Tobin, Stephanie J. London

, Henry Vöezke, Anne Villanen

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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 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.

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

Abstract