Table 2 Top genes associated with large (medium/giant) coronary aneurysm (CCA/L) (z ≥ 5), persistent CCA/L (P-CCA/L), any coronary artery aneurysm (CAA) (z ≥ 2.5), and persistent CAA (P-CAA)

From: Pharmacogenomics of coronary artery response to intravenous gamma globulin in kawasaki disease

Overall Top 10 Hits

 

Genes and gene regions

Large Aneurysm

Persistent Large Aneurysm

Any Aneurysm

Persistent Any Aneurysm

SNP*

Closest gene

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

rs62154092 (T/c)

ACTR3BP2;NONE

0.17 [0.09, 0.33]

6.32E–08

0.16, [0.08, 0.30]

3.22E–08

0.23, [0.14, 0.39]

3.25E–08

0.20, [0.12, 0.36]

3.28E–08

rs1424006606 (C/t)

FRG1DP;FRG2EP

0.15 [0.08, 0.31]

1.71E–07

0.19, [0.09, 0.38]

3.37E–06

0.40, [0.26, 0.59]

6.78E–06

0.29, [0.18, 0.48]

1.53E–06

rs28730284 (G/a)

KLRC2

0.18 [0.10, 0.35]

2.20E–07

0.20, [0.10, 0.39]

1.96E–06

0.37, [0.25, 0.55]

6.34E–07

0.35, [0.22, 0.55]

6.86E–06

rs1396081550 (C/t)

FAM242B;MIR4477A

0.24 [0.14, 0.41]

2.28E–07

0.22, [0.13, 0.39]

1.97E–07

0.35, [0.24, 0.52]

3.01E–07

0.35, [0.22, 0.54]

4.14E–06

rs62330192 (A/g)

SFRP2;DCHS2

0.19 [0.10, 0.36]

2.59E–07

0.20, [0.10, 0.38]

1.09E–06

0.38, [0.25, 0.56]

1.14E–06

0.31, [0.19, 0.49]

7.82E–07

rs1258107032 (T/a)

FRG1CP;FRG1DP

5.76 [2.93, 11.32]

3.83E–07

6.11, [2.96, 12.63]

1.04E–06

2.70, [1.82, 4.00]

7.60E–07

3.44, [2.13, 5.57]

4.80E–07

rs1379390981 (T/g)

FAM242B;MIR4477A

0.21 [0.11, 0.38]

3.86E–07

0.20, [0.11, 0.38]

8.74E–07

0.27, [0.17, 0.44]

6.23E–08

0.24, [0.14, 0.41]

1.93E–07

rs1424309393 (A/t)

FRG1CP;FRG1DP

5.64 [2.87, 11.08]

5.37E–07

5.97, [2.88, 12.34]

1.45E–06

2.74, [1.84, 4.07]

6.02E–07

3.41, [2.11, 5.53]

5.86E–07

rs9643846 (G/t)

ZMAT4

4.12 [2.36, 7.20]

6.57E–07

4.16, [2.35, 7.39]

1.10E–06

2.30, [1.54, 3.44]

5.33E–05

2.04, [1.30, 3.20]

1.97E–03

rs377109159 (T/c)

MIR4445;NECTIN3-AS1

4.60 [2.52, 8.40]

6.86E–07

5.24, [2.80, 9.80]

2.23E–07

2.83, [1.79, 4.47]

8.01E–06

3.49, [2.11, 5.79]

1.25E–06

Top 5 exonic SNPs

SNP

Gene

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

rs11259953 (A/c)

WHAMM

3.30(1.90, 5.74)

2.25E–05

3.34(1.88, 5.93)

3.74E–05

1.98(1.29, 3.02)

1.65E–03

2.01(1.24, 3.24)

4.33E–03

rs11259954 (C/g)

WHAMM

3.30(1.9, 5.74)

2.25E–05

3.34(1.88, 5.93)

3.74E–05

1.98(1.29, 3.02)

1.65E–03

2.01(1.24, 3.24)

4.33E–03

rs1055510 (A/g)

MADD-AS1

0.42(0.27, 0.65)

8.76E–05

0.36(0.23, 0.58)

2.16E–05

0.59(0.43, 0.79)

4.24E–04

0.51(0.36, 0.72)

1.13E–04

rs1052373 (C/t)

MYBPC3

0.44(0.29, 0.68)

1.85E–04

0.39(0.25, 0.61)

5.28E–05

0.60(0.45, 0.81)

7.69E–04

0.53(0.37, 0.74)

2.18E–04

rs77868901 (G/c)

TMEM259

9.00(2.76, 29.31)

2.66E–04

8.57(2.62, 28.05)

3.86E–04

3.60(1.21, 10.71)

2.13E–02

4.69(1.51, 14.54)

7.46E–03

Top 10 non-exonic SNPs in the gene

SNP

Gene

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

rs28730284 (A/g)

Upstream KLRC2

0.18(0.10, 0.35)

2.20E–07

0.20(0.1, 0.39)

1.96E–06

0.37(0.25, 0.55)

6.34E–07

0.35(0.22, 0.55)

6.86E–06

rs9643846 (T/g)

Intronic ZMAT4

4.12(2.36, 7.2)

6.57E–07

4.16(2.35, 7.39)

1.10E–06

2.3(1.54, 3.44)

5.33E–05

2.04(1.3, 3.2)

1.97E–03

rs9643847 (G/a)

Intronic ZMAT4

3.95(2.27, 6.86)

1.14E–06

3.86(2.19, 6.82)

3.19E–06

2.14(1.44, 3.2)

1.89E–04

1.99(1.27, 3.12)

2.62E–03

rs57504215 (G/a)

Intronic ZMAT4

3.88(2.23, 6.78)

1.78E–06

3.90(2.2, 6.92)

3.04E–06

2.18(1.45, 3.27)

1.61E–04

1.9(1.21, 2.98)

5.60E–03

rs60545202 (A/g)

Intronic ZMAT4

3.91(2.23, 6.84)

1.82E–06

3.96(2.22, 7.06)

2.97E–06

2.13(1.41, 3.23)

3.47E–04

1.98(1.26, 3.14)

3.37E–03

rs59556769 (G/a)

Intronic ZMAT4

3.73(2.16, 6.42)

2.11E–06

3.87(2.21, 6.77)

2.18E–06

2.01(1.35, 2.99)

6.39E–04

1.98(1.27, 3.08)

2.67E–03

rs10276547 (C/t)

ncRNA intronic LOC100128317

5.55(2.73, 11.27)

2.17E–06

5.93(2.88, 12.2)

1.34E–06

2.74(1.56, 4.81)

4.31E–04

3.88(2.09, 7.22)

1.78E–05

rs73677451 (G/t)

Intronic ZMAT4

3.70(2.15, 6.38)

2.36E–06

3.72(2.13, 6.52)

4.14E–06

2.08(1.39, 3.09)

3.34E–04

1.98(1.27, 3.09)

2.50E–03

rs600075 (G/a)

Intronic PTPRD

3.59(2.11, 6.09)

2.36E–06

3.55(2.05, 6.16)

6.45E–06

2.30(1.57, 3.37)

1.79E–05

2.41(1.56, 3.74)

8.24E–05

rs5896385 (-/a)

Intronic PTPRD

3.59(2.11, 6.09)

2.36E–06

3.55(2.05, 6.16)

6.45E–06

2.30(1.57, 3.37)

1.79E–05

2.41(1.56, 3.74)

8.24E–05

  1. *First allele is the major allele and the second is the minor allele. Associations statistics (OR and p values) are based on the minor allele.