TABLE 2.
SNPs showing association signals in GWA study and replications.
| Chr | Pos a | SNP ID | Gene b | Risk allele | Discovery | Verification | Validation d | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pooling P | MAF-case | MAF-control | P Tends | P adj c | Or (95%CI) | MAF-case | MAF-control | P | Or (95%CI) | |||||
| 1 | 53,532,606 | rs11580093 | PODN | C | 3.24 × 10−9 | 4.21% | 1.80% | 0.0136 | 0.0214 | 2.32 (1.13, 4.75) | 3.39% | 3.21% | 0.662 | 1.06 (0.85, 1.31) |
| 1 | 66,573,381 | rs10889602 | PDE4B | G | 3.59 × 10−10 | 7.35% | 4.30% | 0.0198 | 0.0201 | 1.78 (1.10, 2.91) | 6.92% | 5.46% | 0.0035 | 1.28 (1.08, 1.52) |
| 4 | 73,676,690 | rs1346132 | COX18 | G | 1.60 × 10−10 | 5.80% | 2.20% | 1.60×10−3 | 2.37×10−3 | 2.70 (1.42, 5.13) | NA | NA | NA | NA |
| 6 | 16,877,190 | rs7762018 | PHF10 | A | 4.59 × 10−9 | 32.77% | 24.18% | 3.27×10−4 | 5.76×10−4 | 1.53 (1.21, 1.94) | 32.2% | 29.9% | 0.0125 | 1.11 (1.02, 1.21) |
| 11 | 86,402,877 | rs600242 | ME3 | G | 4.84 × 10−9 | 17.12% | 10.30% | 4.10×10−4 | 5.28×10−4 | 1.78 (1.29, 2.48) | 18.4% | 17.6% | 0.476 | 1.04 (0.93, 1.16) |
| 12 | 21,047,074 | rs4149152 | SLC O 1B3 | G | 4.36 × 10−10 | 10.64% | 5.30% | 3.54×10−4 | 5.86×10−4 | 2.09 (1.36, 3.22) | 8.75% | 8.14% | 0.280 | 1.08 (0.94, 1.24) |
| 12 | 97,563,086 | rs2193015 | NEDD1 | C | 1.87 × 10−9 | 37.29% | 48.10% | 4.81×10−5 | 5.072×10−5 | 1.57 (1.26, 1.94) | 40.4% | 43.2% | 0.0051 | 1.12 (1.03, 1.21) |
| 17 | 76,429,546 | rs618324 | DNAH17 | C | 1.30 × 10−9 | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 18 | 49,625,503 | rs9676191 | DCC | C | 2.68 × 10−9 | 17.87% | 10.03% | 9.35 × 10−5 | 1.12 × 10−4 | 1.91 (1.41, 2.58) | 16.0% | 13.2% | 4.36 × 10-5 | 1.25 (1.12, 1.39) |
| Replications of rs10889602 | 4.00% | 5.24% | 0.021 | 1.32 (0.98, 1.78) | ||||||||||
| KMUH | Pmeta = 5.98 × 10−4 | 1.29 | ||||||||||||
a
Based on human reference genome build 37 (NCBI, 37).
b
Showing the nearest RefSeq Genes.
c
p-value adjusted by gender and age in individual samples in the WMU, cohort.
d
Combined cases from WMU, and SPPH, 50K Han genome from Han Chinese Genome Database as controls. MAF, minor allele frequency; OR, odds ratio; CI, confidence interval; NA, not available.