Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
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.
Hancock
Dana B
DB
Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina, USA.
Eijgelsheim
Mark
M
Wilk
Jemma B
JB
Gharib
Sina A
SA
Loehr
Laura R
LR
Marciante
Kristin D
KD
Franceschini
Nora
N
van Durme
Yannick M T A
YM
Chen
Ting-Hsu
TH
Barr
R Graham
RG
Schabath
Matthew B
MB
Couper
David J
DJ
Brusselle
Guy G
GG
Psaty
Bruce M
BM
van Duijn
Cornelia M
CM
Rotter
Jerome I
JI
Uitterlinden
André G
AG
Hofman
Albert
A
Punjabi
Naresh M
NM
Rivadeneira
Fernando
F
Morrison
Alanna C
AC
Enright
Paul L
PL
North
Kari E
KE
Heckbert
Susan R
SR
Lumley
Thomas
T
Stricker
Bruno H C
BH
O'Connor
George T
GT
London
Stephanie J
SJ
D030541:Databases, Genetic; D005260:Female; D005541:Forced Expiratory Volume; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D008168:Lung / Q000378:metabolism / Q000502:physiology* / Q000503:physiopathology; D008171:Lung Diseases / Q000235:genetics / Q000503:physiopathology; D008297:Male; D015201:Meta-Analysis as Topic; D020641:Polymorphism, Single Nucleotide; D013147:Spirometry; D014797:Vital Capacity