Table 1.
SNPs associated with osteonecrosis
| SNP no. | Gene | Genotype | AVN | Control | Reference genotype | AVN | Control | OR | 95% CI | P |
|---|---|---|---|---|---|---|---|---|---|---|
| rs1019856* | TGFBR2 | AA | 55 | 36 | AG | 143 | 156 | 1.75 | 1.08-2.86 | .023 |
| rs934328† | TGFBR2 | CC | 75 | 60 | T_ | 137 | 242 | 2.36 | 1.56-3.51 | < .001 |
| rs284157*† | TGFBR3 | A_ | 209 | 344 | GG | 174 | 65 | 4.95 | 3.53-6.94 | < .001 |
| rs270393*† | BMP6 | GG | 63 | 39 | C_ | 211 | 226 | 1.80 | 1.15-2.81 | .009 |
| rs267196† | BMP6 | TT | 253 | 226 | AT | 78 | 116 | 1.85 | 1.30-2.63 | .001 |
| rs267201 | BMP6 | CT | 161 | 161 | TT | 92 | 142 | 1.60 | 1.13-2.28 | .008 |
| rs449853† | BMP6 | TT | 71 | 47 | C_ | 308 | 338 | 1.68 | 1.12-2.52 | .012 |
| rs1225934† | BMP6 | CC | 308 | 265 | AC | 70 | 123 | 1.96 | 1.41-2.78 | .001 |
| rs212527† | ECE1 | GG | 75 | 22 | A_ | 123 | 196 | 5.68 | 3.33-9.62 | < .001 |
| rs5369*† | EDN1 | AG | 48 | 41 | GG | 57 | 128 | 3.04 | 1.76-5.24 | .001 |
| hCV7464888† | EDN1 | AG | 49 | 61 | AA | 209 | 141 | 2.22 | 1.41-3.45 | .001 |
| rs979091* | ERG | CC | 39 | 13 | AA | 9 | 12 | 3.85 | 1.32-11.10 | .014 |
| rs2836430 | ERG | AA | 373 | 353 | AC | 33 | 59 | 1.96 | 1.22-3.13 | .005 |
| rs7163836 | ANXA2 | GG | 149 | 119 | AA | 44 | 70 | 1.82 | 1.15-2.86 | .010 |
| hCV11770326† | ANXA2 | CC | 227 | 204 | G_ | 55 | 138 | 3.38 | 2.28-4.97 | < .001 |
| rs7170178† | ANXA2 | AA | 164 | 140 | G | 148 | 210 | 1.98 | 1.44-2.72 | < .001 |
| rs1033028† | ANXA2 | T_ | 368 | 368 | GG | 14 | 36 | 2.43 | 1.28-4.57 | .007 |
| hCV26910500† | ANXA2 | G_ | 156 | 122 | AA | 102 | 166 | 2.56 | 1.79-3.68 | < .001 |
| hCV1571628 | ANXA2 | TT | 124 | 138 | AT | 111 | 179 | 1.45 | 1.03-2.08 | .034 |
| rs538874† | STARD13 | G_ | 286 | 331 | AA | 37 | 51 | 1.79 | 1.12-2.85 | .015 |
| rs475303 | STARD13 | CT | 132 | 93 | CC | 278 | 279 | 1.42 | 1.04-1.96 | .029 |
| rs648464† | STARD13 | AG | 193 | 126 | GG | 155 | 185 | 1.91 | 1.39-2.61 | .001 |
| rs480780*† | KL | AC | 69 | 44 | CC | 6 | 5 | 2.97 | 1.83-4.84 | .001 |
| rs211235† | KL | C_ | 150 | 194 | AA | 9 | 46 | 3.97 | 1.81-8.69 | .001 |
| rs2149860† | KL | G_ | 290 | 231 | AA | 134 | 148 | 1.42 | 1.05-1.90 | .021 |
| rs685417† | KL | AG | 199 | 133 | GG | 155 | 164 | 1.66 | 1.21-2.28 | .002 |
| rs516306† | KL | T_ | 411 | 365 | CC | 8 | 19 | 2.86 | 1.19-6.90 | .019 |
| rs565587† | KL | AG | 142 | 113 | AA | 130 | 172 | 1.80 | 1.28-2.53 | .001 |
| rs211239† | KL | A_ | 388 | 314 | GG | 27 | 53 | 2.58 | 1.56-4.28 | .001 |
| rs211234† | KL | G_ | 402 | 333 | AA | 8 | 24 | 4.08 | 1.73-9.62 | .001 |
| rs2238166 | KL | C_ | 408 | 360 | TT | 8 | 16 | 2.50 | 1.02-6.16 | .046 |
| rs499091† | KL | A_ | 368 | 335 | GG | 8 | 19 | 2.85 | 1.18-6.89 | .020 |
| rs576404† | KL | C_ | 411 | 372 | AA | 5 | 16 | 4.23 | 1.40-12.82 | .010 |
| hCV3118898† | APRIN | C_ | 396 | 333 | AA | 26 | 53 | 2.51 | 1.51-4.14 | .001 |
| hCV11710292 | APRIN | AG | 174 | 125 | AA | 225 | 232 | 1.45 | 1.08-1.95 | .014 |
The selection of individual genotypes was based on 512 tests, so that the largest P value to accept a significant association with 20% FDR is .0016. The selection of pooled genotypes was based on 233 tests so that the largest P value to accept a significant association with 20% FDR was .0309. The STARD13 and APRIN genes flank the KL gene.
*
SNPs that were typed as part of the first, low-density SNP screen for the candidate genes
†
SNPs that are significant, with 20% FDR