Table 2.
Association of IL1RN SNPs with sJIA risk and their effect on IL1RN expression / IL-1RA concentration
|
IL1RN in
LCLs Lappalainen et al. 25 |
IL1RN in whole
blood Westra et al. 26 |
IL-1RA in serum Herder et al. 27 |
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|---|---|---|---|---|---|---|---|---|---|---|
|
|
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| SNP | Risk Allele |
Meta P | Meta OR (95 CI) |
r2 | P-value | Effect Size |
P-value | Effect Size |
P-value | Effect Size |
| rs55663133 | AAT | 5.9 × 10−5 | 1.3 (1.1, 1.4) | 1 | 1.0 × 10−6 | −0.25 | ||||
| rs62158854 | G | 7.2 × 10−5 | 1.3 (1.1, 1.4) | 1 | 6.5 × 10−7 | −0.25 | ||||
| rs62158853 | T | 8.3 × 10−5 | 1.3 (1.1, 1.4) | 1 | 2.6 × 10−7 | −0.26 | ||||
| rs55709272 | C | 2.8 × 10−4 | 1.2 (1.1, 1.4) | 0.87 | ||||||
| rs7580634 | T | 3.7 × 10−4 | 1.2 (1.1, 1.4) | 0.91 | 2.8 × 10−6 | −0.24 | ||||
| rs4251961 | C | 4.6 × 10−4 | 1.2 (1.1, 1.4) | 0.86 | 1.0 × 10−6 | −0.25 | 1.6 × 10−11 | −6.74 | 2.2 × 10−34 | −0.08 |
| rs555447483 | A | 5.0 × 10−4 | 1.2 (1.1, 1.4) | 0.89 | ||||||
| rs28648961 | A | 8.5 × 10−4 | 1.2 (1.1, 1.4) | 0.75 | 2.8 × 10−6 | −0.24 | ||||
| rs111354213 | - | 9.8 × 10−4 | 1.2 (1.1, 1.4) | 0.74 | ||||||
| rs6743171 | C | 1.1 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 3.2 × 10−6 | −0.24 | 5.8 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs17207494 | C | 1.1 × 10−3 | 1.2 (1.1, 1.4) | 0.75 | 2.9 × 10−6 | −0.24 | 3.8 × 10−8 | −5.50 | 1.3 × 10−11 | −0.08 |
| rs10171849 | C | 1.1 × 10−3 | 1.2 (1.1, 1.4) | 0.75 | 5.5 × 10−6 | −0.23 | 2.6 × 10−8 | −5.57 | 1.4 × 10−11 | −0.08 |
| rs4496335 | T | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 3.0 × 10−6 | −0.24 | 5.2 × 10−8 | −5.44 | 6.4 × 10−13 | −0.09 |
| rs6730516 | T | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 3.5 × 10−6 | −0.24 | 6.2 × 10−8 | −5.41 | 6.4 × 10−13 | −0.09 |
| rs55896126 | C | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.75 | 2.7 × 10−6 | −0.24 | ||||
| rs6734238 | G | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.73 | 2.4 × 10−8 | −5.58 | 1.1 × 10−12 | −0.08 | ||
| rs13410964 | A | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 2.7 × 10−6 | −0.24 | 6.4 × 10−8 | −5.41 | 6.4 × 10−13 | −0.09 |
| rs13424580 | A | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.75 | 2.4 × 10−6 | −0.24 | 5.3 × 10−8 | −5.44 | 1.4 × 10−11 | −0.08 |
| rs1446510 | T | 1.2 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 2.8 × 10−6 | −0.24 | 6.2 × 10−8 | −5.41 | 6.5 × 10−13 | −0.09 |
| rs10176274 | G | 1.3 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 2.7 × 10−6 | −0.24 | 5.8 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs10188292 | T | 1.3 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 2.6 × 10−6 | −0.24 | 5.8 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs1446509 | T | 1.3 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 2.0 × 10−6 | −0.24 | 6.2 × 10−8 | −5.41 | 6.5 × 10−13 | −0.09 |
| rs62158846 | T | 1.3 × 10−3 | 1.2 (1.1, 1.4) | 0.75 | ||||||
| rs6738239 | A | 1.3 × 10−3 | 1.2 (1.1, 1.4) | 0.77 | 4.7 × 10−6 | −0.23 | 6.1 × 10−8 | −5.42 | 6.5 × 10−13 | −0.09 |
| rs13382561 | G | 1.3 × 10−3 | 1.2 (1.1, 1.4) | 0.75 | 1.9 × 10−6 | −0.24 | 3.7 × 10−8 | −5.51 | 1.4 × 10−11 | −0.08 |
| rs7587033 | G | 0.001296 | 1.2 (1.1, 1.4) | 0.77 | 2.9 × 10−6 | −0.24 | ||||
| rs6750559 | A | 0.001325 | 1.2 (1.1, 1.4) | 0.77 | 2.5 × 10−6 | −0.24 | 6.1 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs7574427 | A | 0.001344 | 1.2 (1.1, 1.4) | 0.77 | 2.1 × 10−6 | −0.24 | 4.3 × 10−8 | −5.48 | 1.4 × 10−11 | −0.08 |
| rs6722922 | T | 0.001374 | 1.2 (1.1, 1.4) | 0.77 | 2.7 × 10−6 | −0.24 | 6.1 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs6741180 | A | 0.001376 | 1.2 (1.1, 1.4) | 0.77 | 3.1 × 10−6 | −0.24 | 6.0 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs7574159 | A | 0.001393 | 1.2 (1.1, 1.4) | 0.75 | 2.1 × 10−6 | −0.24 | 5.3 × 10−8 | −5.44 | 1.2 × 10−11 | −0.08 |
| rs13398728 | C | 0.001434 | 1.2 (1.1, 1.4) | 0.77 | 2.7 × 10−6 | −0.24 | 6.0 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs13409371 | A | 0.001445 | 1.2 (1.1, 1.4) | 0.79 | 6.3 × 10−7 | −0.25 | 5.2 × 10−9 | −5.84 | 3.8 × 10−12 | −0.08 |
| rs13409360 | A | 0.001467 | 1.2 (1.1, 1.4) | 0.79 | 6.5 × 10−7 | −0.25 | 3.8 × 10−9 | −5.89 | 7.8 × 10−13 | −0.08 |
| rs12329129 | A | 0.001468 | 1.2 (1.1, 1.4) | 0.77 | 2.8 × 10−6 | −0.24 | 6.1 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs12328368 | G | 0.001473 | 1.2 (1.1, 1.4) | 0.77 | 2.7 × 10−6 | −0.24 | 6.1 × 10−8 | −5.42 | 6.4 × 10−13 | −0.09 |
| rs7596350 | G | 0.001475 | 1.2 (1.1, 1.4) | 0.75 | 1.7 × 10−6 | −0.24 | ||||
| rs6746979 | A | 0.001485 | 1.2 (1.1, 1.4) | 0.75 | 2.1 × 10−6 | −0.24 | 5.1 × 10−8 | −5.45 | 1.4 × 10−11 | −0.08 |
| rs58865280 | A | 0.001494 | 1.2 (1.1, 1.4) | 0.75 | ||||||
| rs9973741 | G | 0.001514 | 1.2 (1.1, 1.4) | 0.75 | 2.1 × 10−6 | −0.24 | ||||
| rs12328766 | G | 0.001562 | 1.2 (1.1, 1.4) | 0.77 | 3.0 × 10−6 | −0.24 | 6.2 × 10−8 | −5.41 | 6.4 × 10−13 | −0.09 |
| rs550593914 | T | 0.001593 | 1.2 (1.1, 1.4) | 0.77 | ||||||
SNP, single nucleotide polymorphism; Meta P, fixed effect meta-analysis P value; Meta OR, fixed effect meta-analysis odds ratio; 95 CI, 95% confidence interval; r2, pairwise r2 with rs55663133 using the Estimation-Maximization method in the U.S. case-control population; LCL, lymphoblastoid cell line. The top 7 sJIA-associated SNPs, which are inherited as an LD block, are shown in bold italics.