Table 1. Association Results for Celiac Risk Variants Genotyped in Type 1 Diabetes Case-Control and Family Collections.
Celiac disease loci meeting genome wide significance criteria (P < 5×10−7), which have been reported previously,10 were tested in T1D collections.
| Genome-wide Association Study Loci in Celiac Disease Hunt et al. 10 |
Type 1 Diabetes Results | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chromosome/ Candidate gene |
SNP | Maximum 2,421 cases and 4,828 controls OR 95% CI |
P-value | Minor allele |
Allele Frequency cases |
Allele Frequency controls |
Maximum 8,064 cases and 9,339 controls |
2,519 parent-child-trios |
P combined | ||
| OR 95% CI | P | RR 95% CI | P | ||||||||
| 1q31/RGS1 | rs2816316 | 0.72 (0.65-0.79) | 2.58 × 10−11 | C | 0.166 | 0.182 | 0.89 (0.84-0.95) | 1.23 × 10−4 | 0.91 (0.82-1.00) | 0.0436 | 1.48 × 10−5 |
| 2q12/IL18RAP | rs917997 | 1.29 (1.19-1.40) | 8.49 × 10−10 | A | 0.220 | 0.221 | 0.98 (0.93-1.03) | 0.416 0.0122 (2-df) |
0.87 (0.78-0.96) | 8.35 × 10−3 6.50 × 10−3 (2-df) |
0.151 8.03 × 10−5 (2-df) |
| 3p21/CCR3* | rs6441961 | 1.21 (1.13-1.30) | 3.41 × 10−7 | A | 0.321 | 0.301 | 1.09 (1.04-1.14) | 3.40 × 10−4 | 1.04 (0.95-1.13) | 0.386 | 1.95 × 10−3 |
| 3q25/IL12A | rs17810546 rs9811792 |
1.35 (1.23-1.49) 1.21 (1.15-1.32) |
1.07 × 10−9 5.24 × 10−8 |
G G |
0.123 0.451 |
0.123 0.443 |
1.00 (0.93-1.07) 1.04 (0.99-1.08) |
0.960 0.147 |
N/A N/A |
N/A N/A |
|
| 3q28/LPP | rs1464510 | 1.23 (1.15-1.31) | 5.33 × 10−9 | T | 0.451 | 0.456 | 1.00 (0.95-1.04) | 0.820 | N/A | N/A | |
| 4q27/IL2-IL21* | rs6822844 | 0.71 (0.63-0.80) | 2.82 × 10−13 | T | 0.165 | 0.176 | 0.95 (0.89-1.00) | 0.0559 | N/A | N/A | |
| 6q25/TAGAP | rs1738074 | 1.21 (1.13-1.30) | 6.71 × 10−8 | T | 0.414 | 0.437 | 0.92 (0.88-0.96) | 7.90 × 10−5 | 0.86 (0.80-0.92) | 2.71 × 10−5 | 7.59 × 10−9 |
| 12q24/SH2B3* | rs3184504 | 1.21 (1.12-1.29) | 1.33 × 10−7 | A | 0.544 | 0.484 | 1.28 (1.22-1.35) | 2.72 × 10−24 | 1.25 (1.15-1.36) | 5.08 × 10−8 | 5.62 × 10−31 |
OR = odds ratio, 95% CI = 95% confidence intervals, RR = relative risk, N/A = not attempted.
*
These loci have previously been examined for their possible sharing between celiac disease and T1D, with strong support for 12q24/SH2B3 sharing (same SNP, same allele direction),10 since this locus is an established T1D risk determinant.1 The 2-df test is reported when there was a significant difference between genotypic effects model and the multiplicative allelic effects model such that the multiplicative model is not the appropriate one (Methods).