Table 1 Associations of 4 SNPs to CHD in the GWA scan and validation studies.
From: Association analysis identifies new risk loci for congenital heart disease in Chinese populations
Chr. (cytoband) | SNP | Associated gene | Study | MAF | ORadd(95% CI)* | Padd* | |
|---|---|---|---|---|---|---|---|
Cases | Controls | ||||||
4q31.22 | rs1400558 | EDNRA | GWAS | 0.39 | 0.33 | 1.30(1.14–1.47) | 8.07 × 10−5 |
G/A† | Validation I | 0.36 | 0.34 | 1.13(1.05–1.21) | 1.18 × 10−3 | ||
Validation II | 0.37 | 0.34 | 1.15(1.04–1.28) | 9.11 × 10−3 | |||
Combined‡ | 0.37 | 0.33 | 1.17(1.11–1.23) | 2.75 × 10−9 | |||
Validation III§ | 0.36 | 0.32 | 1.18(1.06–1.31) | 2.91 × 10−3 | |||
All combined|| | 0.37 | 0.33 | 1.15(1.10–1.21) | 1.63 × 10−9 | |||
9p24.2 | rs7863990 | SMARCA2 | GWAS | 0.11 | 0.07 | 1.54(1.25–1.90) | 4.66 × 10−5 |
C/T† | Validation I | 0.10 | 0.08 | 1.20(1.06–1.35) | 3.00 × 10−3 | ||
Validation II | 0.10 | 0.08 | 1.28(1.07–1.52) | 6.30 × 10−3 | |||
Combined‡ | 0.10 | 0.08 | 1.29(1.18–1.40) | 7.47 × 10−9 | |||
Validation III§ | 0.12 | 0.08 | 1.45(1.23–1.72) | 1.76 × 10−5 | |||
All combined|| | 0.11 | 0.08 | 1.34(1.24–1.44) | 3.71 × 10−14 | |||
12q24.13 | rs2433752 | TBX3–TBX5 | GWAS | 0.15 | 0.20 | 0.72(0.61–0.84) | 4.69 × 10−5 |
A/G† | Validation I | 0.18 | 0.20 | 0.86(0.79–0.94) | 8.31 × 10−4 | ||
Validation II | 0.17 | 0.21 | 0.79(0.69–0.90) | 4.68 × 10−4 | |||
Combined‡ | 0.17 | 0.20 | 0.80(0.75–0.85) | 1.80 × 10−11 | |||
Validation III§ | 0.18 | 0.22 | 0.82(0.72–0.92) | 1.23 × 10−3 | |||
All combined|| | 0.17 | 0.20 | 0.83(0.78–0.88) | 1.04 × 10−10 | |||
20q12 | rs490514 | PTPRT | GWAS | 0.44 | 0.38 | 1.29(1.14–1.46) | 5.53 × 10−5 |
A/G† | Validation I | 0.44 | 0.40 | 1.15(1.07–1.23) | 8.75 × 10−5 | ||
Validation II | 0.42 | 0.38 | 1.16(1.05–1.29) | 5.33 × 10−3 | |||
Combined§ | 0.44 | 0.39 | 1.19(1.13–1.25) | 3.53 × 10−11 | |||
Validation III§ | 0.44 | 0.39 | 1.22(1.10–1.35) | 1.96 × 10−4 | |||
All combined§ | 0.44 | 0.39 | 1.19(1.13–1.24) | 1.20 × 10−13 | |||
