Table 3.
Genotype and allele distribution of IL12RB2 rs3790567 genetic variant in SSc patients and controls in a three-step association study
| CTRL |
SSc |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Population (CTRL/SSc) | AA (n) | AG (n) | GG (n) | MAF | AA (n) | AG (n) | GG (n) | MAF | PMH | OR | 95% CI | PBD |
| GWAS cohort (5161/2309) | 0.06 (332) | 0.37 (1911) | 0.57 (2918) | 0.25 | 0.08 (196) | 0.40 (919) | 0.52 (1194) | 0.28 | 1.92 × 10−5 | 1.19 | 1.10–1.29 | NS |
| European follow-up (3183/3085) | 0.08 (241) | 0.37 (1169) | 0.56 (1773) | 0.26 | 0.09 (282) | 0.38 (1187) | 0.52 (1161) | 0.28 | 4.84 × 10−3 | 1.12 | 1.04–1.22 | NS |
| GWAS + European follow-up (8344/5394) | 0.07 (573) | 0.37 (3080) | 0.56 (4691) | 0.25 | 0.09 (478) | 0.39 (2106) | 0.52 (2810) | 0.28 | 5.19 × 10−7 | 1.16 | 1.09–1.22 | NS |
| US follow-up (1139/597) | 0.05 (60) | 0.37 (417) | 0.58 (662) | 0.24 | 0.10 (59) | 0.39 (231) | 0.51 (307) | 0.29 | a2.82 × 10−4 | 1.34 | 1.14–1.57 | NA |
| GWAS + European + US follow-up (9483/5991) | 0.07 (633) | 0.37 (3497) | 0.56 (5353) | 0.25 | 0.09 (537) | 0.39 (2337) | 0.52 (3117) | 0.28 | 2.82 × 10−9 | 1.17 | 1.11–1.24 | NS |
Controls are used as reference for all comparisons. CTRL, healthy controls; SSc, systemic sclerosis; MAF, minor allele (A) frequency; PMH, allelic Mantel–Haenszel fixed effects model P-value; aallelic Chi-square uncorrected P-value; OR, odds ratio; 95% CI, 95% confidence interval; PBD, Breslow–Day test P-value; NS, not statistically significant; NA, not applicable.