Table 2.
Top PR14-selected SNPs associated with pleiotropic glucocorticoid effects ranked by RegulomeDB score.
| rsID | Gene | Location | Alleles | MAF | RDB score | PR14 p-value | PR14 stat | PR14 rank | ON p-value | ON stat |
|---|---|---|---|---|---|---|---|---|---|---|
| rs6453253 | F2RL1 | DS | C/G | 47.45% | 1b | 2.77 ×10−4 | 0.060 | 257 | 0.043 | 0.098 |
| rs2425047 | EIF6 | intronic | A/C | 20.81% | 1b | 8.67 ×10−5 | 0.063 | 91 | 0.063 | 0.091 |
| rs12412962 | SFXN4 | intronic | T/A | 30.15% | 1d | 7.63 ×10−5 | 0.064 | 84 | 0.21 | 0.061 |
| rs3743712 | TK2 | UTR3 | A/G | 9.82% | 1f | 2.30 ×10−6 | 0.072 | 3 | 0.17 | 0.064 |
| rs2243057 | F2RL1 | intronic | A/G | 47.92% | 1f | 2.68 ×10−5 | −0.069 | 20 | 0.007 | −0.132 |
| rs13334391 | TK2 | intronic | A/G | 11.47% | 1f | 4.81 ×10−5 | 0.062 | 54 | 0.31 | 0.047 |
| rs17668734 | SFXN4 | intronic | G/A | 29.46% | 1f | 1.01 ×10−4 | 0.062 | 108 | 0.21 | 0.060 |
| rs6060341 | MMP24 | UTR3 | A/G | 21.07% | 1f | 1.17 ×10−4 | 0.061 | 123 | 0.063 | 0.091 |
| rs4680340 | CCNL1 | DS | T/C | 28.81% | 1f | 1.47 ×10−4 | 0.062 | 146 | 0.10 | 0.083 |
| rs11545619 | ZNF83 | NS | T/C | 9.10% | 1f | 3.13 ×10−4 | 0.058 | 290 | 0.012 | 0.122 |
| rs1736959 | intergenic | C/T | 25.07% | 1f | 3.69 ×10−4 | 0.057 | 332 | 0.10 | 0.082 | |
| rs9912773 | STAT3 | intronic | C/G | 25.76% | 1f | 3.90 ×10−4 | 0.057 | 346 | 0.044 | 0.098 |
| rs10190226 | PLCL1 | intronic | C/T | 33.12% | 1f | 4.31 ×10−4 | −0.058 | 381 | 0.002 | −0.150 |
| rs3935870 | DIP2B | intronic | C/T | 34.29% | 1f | 4.39 ×10−4 | 0.056 | 387 | 0.022 | 0.112 |
| rs2891577 | UBE2S | intronic | T/C | 9.31% | 1f | 5.41 ×10−4 | 0.055 | 480 | 0.23 | 0.059 |
| rs1632988 | intergenic | G/A | 25.27% | 1f | 5.47 ×10−4 | 0.056 | 482 | 0.15 | 0.072 | |
| rs2297789 | EIF6 | intronic | A/T | 20.41% | 1f | 5.89 ×10−4 | 0.055 | 521 | 0.10 | 0.080 |
| rs3007421 | PLEKHG5 | intronic | G/A | 16.67% | 1f | 6.57 ×10−4 | 0.054 | 573 | 0.47 | 0.036 |
| rs4665328 | OTOF | intronic | T/C | 44.80% | 1f | 7.05 ×10−4 | 0.055 | 599 | 0.31 | 0.050 |
The major and minor alleles are listed in the Alleles column, (major is first, minor is second, and risk allele is in bold). DS, downstream. NS, nonsynonymous. UTR3, 3′ untranslated region. MAF, minor allele frequency. PR14, PROMISE, based on PR14 analysis (see Methods for details). ON, osteonecrosis. Stat, statistic (effect size) for the minor allele. A negative statistic means the minor allele is associated with less ON, while a positive statistic means the minor allele is associated with more ON. RDB, RegulomeDB