Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function

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Abstract

Spirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV 1) and its ratio to forced vital capacity (FEV1 /FVC), an indicator of airflow obstruction. This meta-analysis included 20,890 participants of European ancestry from four CHARGE Consortium studies: Atherosclerosis Risk in Communities, Cardiovascular Health Study, Framingham Heart Study and Rotterdam Study. We identified eight loci associated with FEV 1 /FVC (HHIP, GPR126, ADAM19, AGER-PPT2, FAM13A, PTCH1, PID1 and HTR4) and one locus associated with FEV 1 (INTS12-GSTCD-NPNT) at or near genome-wide significance (P 5 × 10-8) in the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease. © 2010 Nature America, Inc. All rights reserved.

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Hancock, D. B., Eijgelsheim, M., Wilk, J. B., Gharib, S. A., Loehr, L. R., Marciante, K. D., … London, S. J. (2010). Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nature Genetics, 42(1), 45–52. https://doi.org/10.1038/ng.500

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