Table 3.
Other immune-associated disease with a 16p13 genetic risk locusa
| Reference study (by first author) | Disease | Marker | Alleles | P value | OR | MAF | r2 with rs12924112 | D′ with rs12924112 |
|---|---|---|---|---|---|---|---|---|
| Barrett (Nat Genet) | T1D | rs12708716 | G>A | 2.2e−16 | Not Available | 0.319 | 0.8268 | 0.9093 |
| Hakonarson (Nature) | T1D | rs12708716 | G>A | 4.92e−7 | 0.84 | 0.350 | 0.8268 | 0.9093 |
| Todd (Nat Genet) | T1D | rs12708716 | G>A | 7.43e−14 | 0.81 | 0.322 | 0.8268 | 0.9093 |
| Patsopoulos (Ann Neurol) | MS | rs12708716 | G>A | 1.08e−4 | 0.90 | 0.350 | 0.8268 | 0.9093 |
| Onengut-Gumuscu (Nat Genet) | T1D | rs12927355 | T>C | 3e−22 | 0.82 | 0.320 | 0.7341 | 0.9237 |
| Beecham (Nat Genet) | MS | rs12927355 | T>C | 6.4e−46 | 0.83 | 0.320 | 0.7341 | 0.9237 |
| Bradfield (PLoS Genet) | T1D | rs12927355 | T>C | 1.91e−16 | 0.80 | Not Available | 0.734 | 0.924 |
| Liu (Nat Genet) | PBC | rs12708715 | T>C | 2.19e−13 | 0.78 | 0.320 | 0.704 | 0.9004 |
| Bentham (Nat Genet) | SLE | rs9652601 | A>G | 7.42e−17 | 0.83 | 0.332 | 0.6782 | 0.87 |
| Cordell (Nat Commun) | PBC | rs12924729 | A>G | 2.39e−14 | 0.76 | 0.330 | 0.6751 | 0.8508 |
| Ferreira (JACI) | AHF | rs62026376 | T>C | 1e−8 | 1.17 | 0.26–0.28 | 0.5825 | 0.9876 |
| Sawcer (Nature) | MS | rs7200786 | G>A | 8.5e−17 | 1.15 | 0.463 | 0.4578 | 0.9262 |
| Betz (Nat Commun) | AA | rs3862469 | T>C | 1.7e−7 | 0.82 | 0.330 | 0.3382 | 0.6356 |
| Ellinghaus (Nat Genet) | AD | rs2041733 | C>T | 1.00e−11 | 1.26 | 0.49 | 0.0667 | 0.3614 |
| Hinks (Nat Genet) | JIA | rs66718203 | C>G | 4.46e−7 | 0.81 | 0.180 | 0.0073 | 0.2639 |
| Beecham (Nat Genet) | MS | rs6498184 | C>T | 7.4e−18 | 0.87 | 0.190 | 0.0073 | 0.2639 |
| Dubois (Nat Genet) | CEL | rs12928822 | C>T | 3.12e−8 | 0.86 | 0.161 | 0.0067 | 0.2511 |
| Tsoi (Nat Genet) | PSO | rs367569 | C>T | 4.9e−8 | 0.88 | 0.291 | 0.0014 | 0.0774 |
T1D type I diabetes, MS multiple sclerosis, PBC primary biliary cirrhosis, SLE system lupus erythematosus, AA alopecia areata, JIA juvenile idiopathic arthritis, CEL celiac disease, AD atopic dermatitis, AHF asthma with hay fever, PSO psoriasis
aStudies assessing immune-associated phenotypes that reported a genetic association at 16p13 were identified. The genetic variants with the lowest (most highly associated) P value for each study are given along with the alleles (major allele>minor allele) and that variant’s P value, odds ratio (OR), and minor allele frequency (MAF). rs12924112 was the most highly associated variant at this locus for EoE risk. The linkage disequilibrium between the top variant of other studies and the top EoE variant is given in the context of r2 and D′