Variants in FAM13A are associated with chronic obstructive pulmonary disease.
We performed a genome-wide association study for chronic obstructive pulmonary disease (COPD) in three population cohorts, including 2,940 cases and 1,380 controls who were current or former smokers with normal lung function. We identified a new susceptibility locus at 4q22.1 in FAM13A and replicated this association in one case-control group (n = 1,006) and two family-based cohorts (n = 3,808) (rs7671167, combined P = 1.2 x 10(-11), combined odds ratio in case-control studies 0.76, 95% confidence interval 0.69-0.83).
Cho
Michael H
MH
Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Boutaoui
Nadia
N
Klanderman
Barbara J
BJ
Sylvia
Jody S
JS
Ziniti
John P
JP
Hersh
Craig P
CP
DeMeo
Dawn L
DL
Hunninghake
Gary M
GM
Litonjua
Augusto A
AA
Sparrow
David
D
Lange
Christoph
C
Won
Sungho
S
Murphy
James R
JR
Beaty
Terri H
TH
Regan
Elizabeth A
EA
Make
Barry J
BJ
Hokanson
John E
JE
Crapo
James D
JD
Kong
Xiangyang
X
Anderson
Wayne H
WH
Tal-Singer
Ruth
R
Lomas
David A
DA
Bakke
Per
P
Gulsvik
Amund
A
Pillai
Sreekumar G
SG
Silverman
Edwin K
EK
D016022:Case-Control Studies; D002894:Chromosomes, Human, Pair 4; D005190:Family; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D015337:Multicenter Studies as Topic; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000209:etiology / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics / Q000502:physiology; D012907:Smoking / Q000009:adverse effects / Q000235:genetics
D043562:Receptors, G-Protein-Coupled