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

DB Hancock, M Eijgelsheim, JB Wilk, SA Gharib… - Nature …, 2010 - nature.com
DB Hancock, M Eijgelsheim, JB Wilk, SA Gharib, LR Loehr, KD Marciante, N Franceschini
Nature genetics, 2010nature.com
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 …
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 (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 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 the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease.
nature.com