Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

Maria Soler Artigas, Daan W. Loth, Louise V. Wain, Sina A. Gharib, Ma'en Obeidat, Wenbo Tang, Guangju Zhai, Jing Hua Zhao, Albert Vernon Smith, Jennifer E. Huffman, Eva Albrecht, Catherine M. Jackson, David M. Evans, Gemma Cadby, Myriam Fornage, Ani Manichaikul, Lorna M. Lopez, Toby Johnson, Melinda C. Aldrich, Thor AspelundInes Barroso, Harry Campbell, Patricia A. Cassano, David J. Couper, Gudny Eiriksdottir, Nora Franceschini, Melissa Garcia, Christian Gieger, Gauti Kjartan Gislason, Ivica Grkovic, Christopher J. Hammond, Dana B. Hancock, Tamara B. Harris, Adaikalavan Ramasamy, Susan R. Heckbert, Markku Heliovaara, Georg Homuth, Pirro G. Hysi, Alan L. James, Stipan Jankovic, Bonnie R. Joubert, Stefan Karrasch, Norman Klopp, Beate Koch, Stephen B. Kritchevsky, Lenore J. Launer, Yongmei Liu, Laura R. Loehr, Kurt Lohman, Ian P. Hall, GIANT Consortium, Int Lung Canc Consortium

Research output: Contribution to journalArticlepeer-review

340 Citations (Scopus)


Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.

Original languageEnglish
Pages (from-to)1082-1090
Number of pages9
JournalNature Genetics
Issue number11
Publication statusPublished - Nov 2011


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