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GWAS Study

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

Hobbs BD, de Jong K, Lamontagne M et al.

28166215 PubMed ID
GWAS Study Type
82438 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HB
Hobbs BD
DJ
de Jong K
LM
Lamontagne M
BY
Bossé Y
SN
Shrine N
AM
Artigas MS
WL
Wain LV
HI
Hall IP
JV
Jackson VE
WA
Wyss AB
LS
London SJ
NK
North KE
FN
Franceschini N
SD
Strachan DP
BT
Beaty TH
HJ
Hokanson JE
CJ
Crapo JD
CP
Castaldi PJ
CR
Chase RP
BT
Bartz TM
HS
Heckbert SR
PB
Psaty BM
GS
Gharib SA
ZP
Zanen P
LJ
Lammers JW
OM
Oudkerk M
GH
Groen HJ
LN
Locantore N
TR
Tal-Singer R
RS
Rennard SI
VJ
Vestbo J
TW
Timens W
PP
Paré PD
LJ
Latourelle JC
DJ
Dupuis J
OG
O'Connor GT
WJ
Wilk JB
KW
Kim WJ
LM
Lee MK
OY
Oh YM
VJ
Vonk JM
DK
de Koning HJ
LS
Leng S
BS
Belinsky SA
TY
Tesfaigzi Y
MA
Manichaikul A
WX
Wang XQ
RS
Rich SS
BR
Barr RG
SD
Sparrow D
LA
Litonjua AA
BP
Bakke P
GA
Gulsvik A
LL
Lahousse L
BG
Brusselle GG
SB
Stricker BH
UA
Uitterlinden AG
AE
Ampleford EJ
BE
Bleecker ER
WP
Woodruff PG
MD
Meyers DA
QD
Qiao D
LD
Lomas DA
YJ
Yim JJ
KD
Kim DK
HI
Hawrylkiewicz I
SP
Sliwinski P
HM
Hardin M
FT
Fingerlin TE
SD
Schwartz DA
PD
Postma DS
MW
MacNee W
TM
Tobin MD
SE
Silverman EK
BH
Boezen HM
CM
Cho MH
Chapter II

Abstract

Summary of the research findings

Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10-6) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 13 new associations with COPD. Nine of these 13 loci have been associated with lung function in general population samples, while 4 (EEFSEC, DSP, MTCL1, and SFTPD) are new. We noted two loci shared with pulmonary fibrosis (FAM13A and DSP) but that had opposite risk alleles for COPD. None of our loci overlapped with genome-wide associations for asthma, although one locus has been implicated in joint susceptibility to asthma and obesity. We also identified genetic correlation between COPD and asthma. Our findings highlight new loci associated with COPD, demonstrate the importance of specific loci associated with lung function to COPD, and identify potential regions of genetic overlap between COPD and other respiratory diseases.

11,157 European ancestry cases, 36,699 European ancestry controls, 1,142 African American cases, 2,380 African American controls, 199 Korean ancestry cases, 6,741 Korean ancestry controls, 52 Hispanic cases, 548 Hispanic controls.

Chapter III

Study Statistics

Key metrics and study information

82438
Total Participants
GWAS
Study Type
Yes
Replicated
12,051 European ancestry cases, 11,111 European ancestry controls, 153 Korean ancestry cases, 205 Korean ancestry controls.
Replication Participants
East Asian, Hispanic or Latin American, European, African American or Afro-Caribbean
Ancestry
Republic of Korea, U.S., Netherlands, Norway, U.K., Poland
Recruitment Country
Chapter IV

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