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 (FEV1) 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 FEV1(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.

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Persistent URL dx.doi.org/10.1038/ng.500, hdl.handle.net/1765/28288
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Hancock, D.B, Eijgelsheim, M, Wilk, J.B, Gharib, S.A, Loehr, L.R, Marciante, K, … London, S.J. (2010). Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nature Genetics, 42(1), 45–52. doi:10.1038/ng.500