Table 2. SNP association results for ORMDL3, PDE4D, DENND1B and IL1RL1.
| Allele frequency | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Region | Gene | Literature SNP, allelea | Reported OR | Power, %b | Cases | Controls | OR | 95% CI OR | P-value |
| (a) Most-associated variant reported in the original studies | |||||||||
| 17q12-21 | ORMDL3 | rs7216389, T | 1.45 | 100 | 0.53 | 0.47 | 1.25 | 1.12–1.40 | 6.0 × 10−5 |
| 5q12 | PDE4D | rs1588265, G | 0.85 | 78 | 0.31 | 0.30 | 1.05 | 0.93–1.18 | 0.4334 |
| 1q31 | DENND1B | rs1775456, G | 0.75 | 93 | 0.21 | 0.20 | 1.02 | 0.89–1.17 | 0.7862 |
| 2q12 | IL1RL1 | rs1420101, T | 1.16 | 77 | 0.39 | 0.38 | 1.04 | 0.93–1.17 | 0.4649 |
| Allele frequency | P-value | ||||||||
|
Region |
Gene |
Best SNP, allelea |
N SNPs testedc |
LD with literature SNP, rb |
Cases |
Controls |
OR |
Uncorrected |
Correctedd |
| (b) Most-associated variant in this study | |||||||||
| 17q12-21 | ORMDL3 | rs6503525,C | 232 | 0.61 | 0.50 | 0.43 | 1.33 | 4.8 × 10−7 | 0.0002 |
| 5q12 | PDE4D | rs17725522,C | 1503 | 0.00 | 0.06 | 0.08 | 0.68 | 0.0007 | 0.1948 |
| 1q31 | DENND1B | rs12094462,G | 171 | 0.03 | 0.10 | 0.12 | 0.81 | 0.0229 | 0.3238 |
| 2q12 | IL1RL1 | rs10197862,G | 182 | 0.09 | 0.12 | 0.16 | 0.75 | 0.0004 | 0.0122 |
All four SNPs in (a) were present in the Illumina chips used and passed QC filters. The top SNPs listed in (b) were imputed with high confidence with MACH, with nearby genotyped SNPs providing comparable evidence for association (cf. Figure 1).
Power to detect the initial association at α=0.05 in this study.
Number of SNPs located in or within 50 kb of each gene. For ORMDL3, we considered all SNPs located between 50 kb downstream of GSDMB and 50 kb upstream of GSDMA.
Significance of the best SNP after accounting for the number of and LD between all SNPs tested in the respective gene, estimated from 10 000 permutations.