Table 2. Case-control association tests for SNPs of ADD3, GPC1, ARF6 and EFEMP in 333 BA patients and 1,665 controls.
CHR | BP | SNP | Gene | Functional annotation | A1/A2 | Minor Allele Frequency | Allelic P value | OR (95% CI) | |
Cases | Controls | ||||||||
2 | 56108333 | rs1346786 | EFEMP1 | intron | G/A | 0.121 | 0.141 | 0.164 | 0.84(0.65- 1.08) |
2 | 56115834 | rs11125609 | EFEMP1 | intron | A/G | 0.440 | 0.457 | 0.426 | 0.93(0.79- 1.11) |
2 | 56118046 | rs10865291 | EFEMP1 | intron | G/A | 0.200 | 0.222 | 0.211 | 0.88(0.71- 1.08) |
2 | 56120853 | rs1430193 | EFEMP1 | intron | A/T | 0.087 | 0.090 | 0.846 | 0.97(0.72- 1.30) |
2 | 241359706 | rs1316479 | GPC1 | 5'upstream | A/G | 0.076 | 0.090 | 0.232 | 0.83(0.60- 1.13) |
2 | 241362669 | rs6750380 | GPC1 | 5'upstream | G/A | 0.434 | 0.392 | 0.041 | 1.19(1.01- 1.41) |
2 | 241371065 | rs6707262 | GPC1 | 5'upstream | G/A | 0.438 | 0.392 | 0.027 | 1.21(1.02- 1.43) |
2 | 241382083 | rs7577243 | GPC1 | intron | G/A | 0.429 | 0.393 | 0.083 | 1.16(0.98- 1.37) |
2 | 241385681 | rs11692341 | GPC1 | intron | G/A | 0.476 | 0.445 | 0.139 | 1.13(0.96- 1.34) |
2 | 241392025 | rs13431676 | GPC1 | intron | A/G | 0.017 | 0.018 | 0.745 | 0.90(0.47- 1.72) |
2 | 241403957 | rs12695020 | GPC1 | intron | A/G | 0.317 | 0.325 | 0.687 | 0.96(0.81- 1.15) |
2 | 241404499 | rs2228327 | GPC1 | synonymous | A/G | 0.129 | 0.124 | 0.700 | 1.05(0.82- 1.35) |
2 | 241405528 | rs2228331 | GPC1 | missense | G/A | 0.326 | 0.336 | 0.610 | 0.95(0.80- 1.14) |
2 | 241419842 | rs6739196 | GPC1 | intron | A/G | 0.048 | 0.051 | 0.747 | 0.94(0.64- 1.38) |
10 | 111735750 | rs17095355 | ADD3 | intron | T/C | 0.494 | 0.397 | 3.23×10-6 | 1.49(1.26- 1.76) |
10 | 111757674 | rs10509906 | ADD3 | intron | C/G | 0.173 | 0.235 | 4.78×10-4 | 0.68(0.55- 0.85) |
10 | 111846687 | rs2501577 | ADD3 | intron | G/A | 0.464 | 0.389 | 2.91×10-4 | 1.36(1.15- 1.61) |
14 | 50322886 | rs3126184 | ARF6 | 5'upstream | G/A | 0.030 | 0.037 | 0.401 | 0.81(0.50- 1.32) |
CHR: Chromosome; BP: Base pair; SNP: Single Nucleotide Polymorphism; OR: odds ratio; CI: confidence interval.