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GWAS Study

Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation.

Adlam D, Berrandou TE, Georges A et al.

37248441 PubMed ID
GWAS Study Type
11209 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

AD
Adlam D
BT
Berrandou TE
GA
Georges A
NC
Nelson CP
GE
Giannoulatou E
HJ
Henry J
ML
Ma L
BM
Blencowe M
TT
Turley TN
YM
Yang ML
CS
Chopade S
FC
Finan C
BP
Braund PS
SI
Sadeg-Sayoud I
IS
Iismaa SE
KM
Kosel ML
ZX
Zhou X
HS
Hamby SE
CJ
Cheng J
LL
Liu L
TI
Tarr I
MD
Muller DWM
DV
d'Escamard V
KA
King A
BL
Brunham LR
BA
Baranowska-Clarke AA
DS
Debette S
AP
Amouyel P
OJ
Olin JW
PS
Patil S
HS
Hesselson SE
JK
Junday K
KS
Kanoni S
AK
Aragam KG
BA
Butterworth AS
TM
Tweet MS
GR
Gulati R
CN
Combaret N
KD
Kadian-Dodov D
KJ
Kalman JM
FD
Fatkin D
HA
Hingorani AD
SJ
Saw J
WT
Webb TR
HS
Hayes SN
YX
Yang X
GS
Ganesh SK
OT
Olson TM
KJ
Kovacic JC
GR
Graham RM
SN
Samani NJ
BN
Bouatia-Naji N
Chapter II

Abstract

Summary of the research findings

Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial infarction primarily affecting women. It is not known to what extent SCAD is genetically distinct from other cardiovascular diseases, including atherosclerotic coronary artery disease (CAD). Here we present a genome-wide association meta-analysis (1,917 cases and 9,292 controls) identifying 16 risk loci for SCAD. Integrative functional annotations prioritized genes that are likely to be regulated in vascular smooth muscle cells and artery fibroblasts and implicated in extracellular matrix biology. One locus containing the tissue factor gene F3, which is involved in blood coagulation cascade initiation, appears to be specific for SCAD risk. Several associated variants have diametrically opposite associations with CAD, suggesting that shared biological processes contribute to both diseases, but through different mechanisms. We also infer a causal role for high blood pressure in SCAD. Our findings provide novel pathophysiological insights involving arterial integrity and tissue-mediated coagulation in SCAD and set the stage for future specific therapeutics and preventions.

1,917 European ancestry cases, 9,292 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

11209
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Canada, U.S., U.K., France, Australia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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