Summary of MDS associated poymorphisms
| Cytoband . | Gene neighborhood . | SNP . | Position . | Group . | Controls, n . | Cases, n . | Minor allele . | Major allele . | MAF case . | MAF control . | OR (95% CI) . | P . | Phet . | I2 . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1q31.1 | PLA2G4A | rs6683416 | 1.87E+08 | Sample set 1 | 2965 | 555 | A | C | 0.20 | 0.25 | 0.74 (0.63-0.86) | 1.87E-04 | .94 | 0 |
| Sample set 2 | 2640 | 352 | 0.23 | 0.25 | 0.73 (0.57-0.93) | 1.03E-02 | ||||||||
| Combined | 5605 | 907 | 0.73 (0.64-0.84) | 5.88E-06 | ||||||||||
| 3p14.1 | FAM19A4 | rs34539210 | 68959905 | Sample set 1 | 2965 | 555 | G | T | 0.20 | 0.24 | 0.72 (0.61-0.85) | 1.17E-04 | 1.00 | 0 |
| Sample set 2 | 2640 | 352 | 0.21 | 0.23 | 0.72 (0.56-0.93) | 1.19E-02 | ||||||||
| Combined | 5605 | 907 | 0.72 (0.63-0.83) | 4.18E-06 | ||||||||||
| 5q21.3 | EFNA5 | rs341274 | 1.07E+08 | Sample set 1 | 2965 | 555 | A | G | 0.27 | 0.22 | 1.31 (1.13-1.53) | 3.75E-04 | .50 | 0 |
| Sample set 2 | 2640 | 352 | 0.25 | 0.23 | 1.44 (1.14-1.84) | 2.42E-03 | ||||||||
| Combined | 5605 | 907 | 1.35 (1.19-1.53) | 3.78E-06 | ||||||||||
| 6p21.33 | NA | rs1634783 | 31283604 | Sample set 1 | 2965 | 555 | A | G | 0.45 | 0.50 | 0.78 (0.68-0.89) | 2.76E-04 | .33 | 0 |
| Sample set 2 | 2640 | 352 | 0.43 | 0.50 | 0.69 (0.56-0.85) | 5.33E-04 | ||||||||
| Combined | 5605 | 907 | 0.76 (0.67-0.84) | 8.46E-07 | ||||||||||
| 10q23.1 | GRID1 | rs7099032 | 87632795 | Sample set 1 | 2965 | 555 | C | A | 0.20 | 0.25 | 0.73 (0.62-0.85) | 9.63E-05 | .76 | 0 |
| Sample set 2 | 2640 | 352 | 0.20 | 0.24 | 0.76 (0.59-0.98) | 3.26E-02 | ||||||||
| Combined | 5605 | 907 | 0.74 (0.64-0.84) | 9.14E-06 | ||||||||||
| 12q24.32 | NA | rs2947170 | 1.28E+08 | Sample set 1 | 2965 | 555 | T | A | 0.12 | 0.07 | 1.61 (1.29-2.00) | 1.73E-05 | .61 | 0 |
| Sample set 2 | 2640 | 352 | 0.08 | 0.07 | 1.80 (1.25-2.57) | 1.47E-03 | ||||||||
| Combined | 5605 | 907 | 1.65 (1.37-1.99) | 1.03E-07 | ||||||||||
| 15q26.1 | NA | rs4404050 | 92136977 | Sample set 1 | 2965 | 555 | T | C | 0.37 | 0.33 | 1.27 (1.10-1.46) | 8.62E-04 | .39 | 0 |
| Sample set 2 | 2640 | 352 | 0.39 | 0.32 | 1.42 (1.15-1.76) | 1.41E-03 | ||||||||
| Combined | 5605 | 907 | 1.31 (1.17-1.47 | 5.85E-06 | ||||||||||
| 20q13.12 | EYA2 | rs1206818 | 45705792 | Sample set 1 | 2965 | 555 | A | C | 0.28 | 0.23 | 1.36 (1.18-1.58) | 4.12E-05 | .40 | 0 |
| Sample set 2 | 2640 | 352 | 0.30 | 0.23 | 1.53 (1.22-1.93) | 2.96E-04 | ||||||||
| Combined | 5605 | 907 | 1.41 (1.24-1.59) | 6.66E-08 |
| Cytoband . | Gene neighborhood . | SNP . | Position . | Group . | Controls, n . | Cases, n . | Minor allele . | Major allele . | MAF case . | MAF control . | OR (95% CI) . | P . | Phet . | I2 . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1q31.1 | PLA2G4A | rs6683416 | 1.87E+08 | Sample set 1 | 2965 | 555 | A | C | 0.20 | 0.25 | 0.74 (0.63-0.86) | 1.87E-04 | .94 | 0 |
| Sample set 2 | 2640 | 352 | 0.23 | 0.25 | 0.73 (0.57-0.93) | 1.03E-02 | ||||||||
| Combined | 5605 | 907 | 0.73 (0.64-0.84) | 5.88E-06 | ||||||||||
| 3p14.1 | FAM19A4 | rs34539210 | 68959905 | Sample set 1 | 2965 | 555 | G | T | 0.20 | 0.24 | 0.72 (0.61-0.85) | 1.17E-04 | 1.00 | 0 |
| Sample set 2 | 2640 | 352 | 0.21 | 0.23 | 0.72 (0.56-0.93) | 1.19E-02 | ||||||||
| Combined | 5605 | 907 | 0.72 (0.63-0.83) | 4.18E-06 | ||||||||||
| 5q21.3 | EFNA5 | rs341274 | 1.07E+08 | Sample set 1 | 2965 | 555 | A | G | 0.27 | 0.22 | 1.31 (1.13-1.53) | 3.75E-04 | .50 | 0 |
| Sample set 2 | 2640 | 352 | 0.25 | 0.23 | 1.44 (1.14-1.84) | 2.42E-03 | ||||||||
| Combined | 5605 | 907 | 1.35 (1.19-1.53) | 3.78E-06 | ||||||||||
| 6p21.33 | NA | rs1634783 | 31283604 | Sample set 1 | 2965 | 555 | A | G | 0.45 | 0.50 | 0.78 (0.68-0.89) | 2.76E-04 | .33 | 0 |
| Sample set 2 | 2640 | 352 | 0.43 | 0.50 | 0.69 (0.56-0.85) | 5.33E-04 | ||||||||
| Combined | 5605 | 907 | 0.76 (0.67-0.84) | 8.46E-07 | ||||||||||
| 10q23.1 | GRID1 | rs7099032 | 87632795 | Sample set 1 | 2965 | 555 | C | A | 0.20 | 0.25 | 0.73 (0.62-0.85) | 9.63E-05 | .76 | 0 |
| Sample set 2 | 2640 | 352 | 0.20 | 0.24 | 0.76 (0.59-0.98) | 3.26E-02 | ||||||||
| Combined | 5605 | 907 | 0.74 (0.64-0.84) | 9.14E-06 | ||||||||||
| 12q24.32 | NA | rs2947170 | 1.28E+08 | Sample set 1 | 2965 | 555 | T | A | 0.12 | 0.07 | 1.61 (1.29-2.00) | 1.73E-05 | .61 | 0 |
| Sample set 2 | 2640 | 352 | 0.08 | 0.07 | 1.80 (1.25-2.57) | 1.47E-03 | ||||||||
| Combined | 5605 | 907 | 1.65 (1.37-1.99) | 1.03E-07 | ||||||||||
| 15q26.1 | NA | rs4404050 | 92136977 | Sample set 1 | 2965 | 555 | T | C | 0.37 | 0.33 | 1.27 (1.10-1.46) | 8.62E-04 | .39 | 0 |
| Sample set 2 | 2640 | 352 | 0.39 | 0.32 | 1.42 (1.15-1.76) | 1.41E-03 | ||||||||
| Combined | 5605 | 907 | 1.31 (1.17-1.47 | 5.85E-06 | ||||||||||
| 20q13.12 | EYA2 | rs1206818 | 45705792 | Sample set 1 | 2965 | 555 | A | C | 0.28 | 0.23 | 1.36 (1.18-1.58) | 4.12E-05 | .40 | 0 |
| Sample set 2 | 2640 | 352 | 0.30 | 0.23 | 1.53 (1.22-1.93) | 2.96E-04 | ||||||||
| Combined | 5605 | 907 | 1.41 (1.24-1.59) | 6.66E-08 |
CI, confidence interval; het, heterogeneity; MAF, minor allele frequency.