Meta-analyses of genome-wide association studies identify multiple novel loci associated with pulmonary function
Year: 2020
Type: article
Abstract: Measurements of lung function by spirometry are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important 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 (ARIC), Cardiovascular Health Study (CHS), Framingham Heart Study (FHS), and Rotterdam Study (RS). We identified eight loci associated with FEV1/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 CHARGE; all but 3 loci (FAM13A, PTCH1, and PID1) replicated with the SpiroMeta consortium. Our findings of novel loci influencing pulmonary function may offer insights into chronic lung disease pathogenesis.
DOI: 10.17615/fsm7-gw04
Authors: Brusselle, Guy G, Hofman, Albert, Marciante, Kristin D, Morrison, Alanna C, van Durme, Yannick M T A, Schabath, Matthew B, Rivadeneira, Fernando, van Duijn, Cornelia M, London, Stephanie J, Couper, David J, Chen, Ting-hsu, Rotter, Jerome I, Lumley, Thomas, Wilk, Jemma B, Psaty, Bruce M, Enright, Paul L, Gharib, Sina A, Punjabi, Naresh M, North, Kari E, Heckbert, Susan R, O'Connor, George T, Eijgelsheim, Mark, Loehr, Laura R, Barr, R Graham, Franceschini, Nora, Uitterlinden, André G, Stricker, Bruno H C, Hancock, Dana B
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4211070738