Table 1 GWAS meta-analysis associations with P < 5 × 10−8.

From: Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction

Locus

rsID

Gene

Effect allele

Discovery (N = 5533)a

Replication (N = 3370)b

Meta-analysis

OR [95% CI]

β

s.e.

P

OR [95% CI]

β

s.e.

P

OR [95% CI]

β

s.e.

P

EAF

SCAD meta-analysis

 1q21.2

rs12740679

Near C1orf51

G

1.97 [1.60–2.43]

0.68

0.11

2.88E−10

1.56 [1.21–2.02]

0.45

0.13

7.32E−04

1.80 [1.53–2.12]

0.59

0.08

2.19E−12

0.26

 6p24.1

rs9349379c

PHACTR1

A

1.54 [1.28–1.84]

0.43

0.09

4.14E−06

1.43 [1.13–1.81]

0.36

0.12

2.70E−03

1.50 [1.29–1.73]

0.40

0.07

4.36E−08

0.62

 12q13.3

rs11172113c

LRP1

T

1.52 [1.26–1.83]

0.42

0.09

1.05E−05

1.50 [1.19–1.90]

0.41

0.12

6.77E−04

1.51 [1.31–1.75]

0.41

0.07

2.63E−08

0.61

 21q22.11

rs28451064

Near LINC00310

G

1.71 [1.29–2.28]

0.54

0.15

2.10E−04

1.99 [1.40–2.83]

0.69

0.18

1.25E−04

1.82 [1.46–2.27]

0.60

0.11

1.19E−07

0.87

Locus

rsID

Gene

Effect allele

Discovery (N = 4895)d

Replication (N = 2996)e

Meta-analysis

OR [95% CI]

β

s.e.

P

OR [95% CI]

β

s.e.

P

OR [95% CI]

β

s.e.

P

EAF

SCAD females-only meta-analysis

 1q21.2

rs12740679

Near C1orf51

G

2.07 [1.65–2.59]

0.73

0.11

2.78E−10

1.51 [1.15–1.98]

0.41

0.14

3.03E−03

1.82 [1.53–2.16]

0.60

0.09

1.48E−11

0.26

 6p24.1

rs9349379c

PHACTR1

A

1.55 [1.27–1.88]

0.44

0.10

1.15E−05

1.38 [1.08–1.77]

0.32

0.13

1.10E−02

1.48 [1.27–1.72]

0.39

0.08

5.13E−07

0.62

 12q13.3

rs11172113c

LRP1

T

1.56 [1.28–1.90]

0.44

0.10

1.18E−05

1.51 [1.17–1.93]

0.41

0.13

1.29E−03

1.54 [1.32–1.80]

0.43

0.08

5.59E−08

0.61

 21q22.11

rs28451064

Near LINC00310

G

1.84 [1.35–2.50]

0.61

0.16

9.28E−05

2.13 [1.47–3.10]

0.76

0.19

7.56E−05

1.95 [1.54–2.47]

0.67

0.12

3.20E−08

0.87

  1. Results of the overall SCAD GWAS meta-analysis (total N = 8903), including both males and females, and the females-only GWAS meta-analysis (total N = 7891) are shown. Discovery GWAS and replication association analysis were all based on generalized mixed models in SAIGE, which uses the saddlepoint approximation (SPA) correction that accounts for case and control imbalances. GC correction was applied before standard error-weighted meta-analysis. SNPs with imputation Rsq ≥ 0.8 and MAF ≥ 1% were analyzed. P values here are two sided and unadjusted from multiple correction. Variants with association P < 5 × 10−8 pass the genome-wide significance Bonferroni-corrected threshold. All of the association models are adjusted for the first 5 PCs; and age, sex, and PCs matched between cases and controls.
  2. Rsq r-squared, OR odds ratio, CI confidence interval, s.e. standard error, EAF effect allele frequency, AF allele frequency.
  3. a270 cases vs. 5263 ctrls, λGC = 0.94.
  4. b163 cases vs. 3207 ctrls, λGC = 0.97.
  5. cGenotyped SNP.
  6. d241 case vs. 4654 ctrls, λGC = 0.97.
  7. e146 case vs. 2850 ctrls, λGC = 0.96.