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

Hancock, D. B., Eijgelsheim, M., Wilk, J. B., Gharib, S. A., Loehr, L. R., Marciante, K. D., Franceschini, N., van Durme, Y. M. T. A., Chen, T-H., Barr, R. G., Schabath, M. B., Couper, D. J., Brusselle, G. G., Psaty, B. M., van Duijn, C. M., Rotter, J. I., Uitterlinden, A. G., Hofman, A., Punjabi, N. M., ... 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, https://doi.org/10.1038/ng.500

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 (FEV(1)/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 x 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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