Table 3. Positive SNPs in PPARGC1B RUNX3 and TBKBP1 which are related to susceptibility to AS or severity of AS comparing all AS patients, severe AS patients and normal AS patients to the controls.
| SNP | All AS subjects cases/controls | Severe AS subjects cases/controls | Normal AS subjects cases/controls | ||||||||
| frequencies | OR(95% CI)c | p | frequencies | OR(95% CI) | p | frequencies | OR(95% CI) | p | |||
| PPARGC1B | rs7379457 | Alla | N/A | N/A | N/A | ||||||
| Genotype | TT | 8/0 | 1.024(1.007∼1.041) | 0.005 * | 0/0 | N/A | N/A | 8/0 | 1.029(1.009∼1.050) | 0.002 * | |
| CT | 50/72 | 0.671(0.453∼0.993) | 0.046# | 18/72 | 1.292(0.714∼2.339) | 32/72 | 0.538(0.344∼0.841) | 0.006 * | |||
| CC | 336/330 | 1b | 64/330 | 1 | 272/330 | 1 | |||||
| Allele | T | 66/72 | 0.929(0.655∼1.318) | 18/72 | 1.253(0.726∼2.164) | 48/72 | 0.847(0.579∼1.240) | ||||
| C | 722/732 | 1 | 146/732 | 1 | 576/732 | 1 | |||||
| RUNX3 | rs1395621 | All | 0.041# | 0.008 * | 0.147 | ||||||
| Genotype | AA | 58/66 | 0.730(0.477∼1.117) | 6/66 | 0.408(0.178∼0.934) | 0.007 * | 52/66 | 0.834(0.534∼1.303) | |||
| AG | 189/220 | 0.689(0.504∼0.943) | 0.015# | 39/220 | 0.538(0.321∼0.903) | 0.025# | 150/220 | 0.736(0.527∼1.028) | |||
| GG | 149/118 | 1 | 37/118 | 1 | 112/118 | 1 | |||||
| Allele | A | 305/352 | 0.811(0.665∼0.991) | 0.040# | 51/352 | 0.585(0.408∼0.837) | 0.003 * | 254/352 | 0.880(0.712∼1.087) | ||
| G | 487/456 | 1 | 113/456 | 1 | 374/456 | 1 | |||||
| rs9438876 | All | 0.022# | 0.716 | 0.004 * | |||||||
| Genotype | GG | 43/30 | 1.347(0.807∼2.251) | 4/30 | 0.556(0.180∼1.713) | 39/30 | 1.590(0.937∼2.699) | ||||
| AG | 129/172 | 0.743(0.547∼1.008) | 0.047# | 32/172 | 0.905(0.538∼1.523) | 97/172 | 0.701(0.504∼0.974) | 0.028# | |||
| AA | 188/184 | 1 | 0.038# | 38/184 | 1 | 150/184 | 1 | 0.007 * | |||
| Allele | G | 215/232 | 0.991(0.794∼1.237) | 40/232 | 0.862(0.581∼1.278) | 175/232 | 1.026(0.811∼1.298) | ||||
| A | 505/540 | 1 | 108/540 | 1 | 397/540 | 1 | |||||
| TBKBP1 | rs8070463 | All | 0.187 | 0.014# | 0.415 | ||||||
| Genotype | CC | 72/94 | 0.788(0.531∼1.170) | 8/94 | 0.400(0.186∼0.861) | 0.003 * | 64/94 | 0.928(0.611∼1.411) | |||
| CT | 198/184 | 1.084(0.786∼1.494) | 40/184 | 0.815(0.483∼1.376) | 158/184 | 1.170(0.828∼1.654) | |||||
| TT | 124/124 | 1 | 34/124 | 1 | 90/124 | 1 | |||||
| Allele | C | 342/372 | 0.890(0.731∼1.085) | 56/372 | 0.602(0.424∼0.856) | 0.004 * | 286/372 | 0.983(0.797∼1.212) | |||
| T | 446/432 | 1 | 108/432 | 1 | 338/432 | 1 | |||||
a
“All” means the p value that we compare all the three genotype using 3×2 chi squared method. P-value for individual genotypes are shown only if significant at 0.05 level.
b
The last lines of genotypes or alleles are the major genotypes or the major alleles. The other genotypes or alleles are compared to them. The relative risk associated with major genotypes and major alleles is estimated as an odds ratio (OR) with a 95% confidence interval (CI).
c
OR (95% CI) are adjusted by age and sex using multiple regression analysis.
#
indicates p-value is less than 0.05 but cannot pass Bonferroni correction which shows marginal significant difference.