Table 2.
Genome-Wide Significant (P < 5.0 × 10 8) Variants Associated With Inflammatory Bowel Disease After Analysis Conditioned on the HLA-DRB1 Single-Nucleotide Polymorphism rs9270299 (From the Ulcerative Colitis Analysis)
| Phenotype | Chr | Position (hg19) |
Nearest gene | SNP name | A1 | A2 | Combined Freq |
Unconditional
|
Conditional
|
MAF
|
African subpopulation with highest MAF |
|||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR | P value | OR | P value | YRI | EAS | EUR | SAS | |||||||||
| IBD | 6 | 32594240 | HLA-DQA1 | rs139282044a | T | A | 0.031 | 1.93 | 9.43E-08 | 2.08 | 5.78E-09 | 0.04 (A) | 0 (A) | 0 (A) | 0 (A) | ESN 0.08 (A) |
| 6 | 32367297 | BTNL2 | rs144540865a | A | G | 0.032 | 1.88 | 1.41E-07 | 2.01 | 1.25E-08 | 0 (G) | 0 (G) | 0 (G) | 0 (G) | LWK 0.03 (G) | |
| 6 | 32590316 | HLA-DQA1 | rs75441240a | C | T | 0.032 | 1.84 | 2.89E-07 | 1.97 | 1.91E-08 | 0.04 (T) | 0 (T) | 0 (T) | 0 (T) | ESN 0.08 (T) | |
| 6 | 32572195 | HLA-DRB1 | rs140435271a | A | G | 0.033 | 1.82 | 4.51E-07 | 1.95 | 2.97E-08 | 0.04 (G) | 0 (G) | 0 (G) | 0 (G) | ESN 0.08 (G) | |
| 6 | 32415572 | HLA-DRA | rs114243387a | G | C | 0.038 | 1.69 | 4.92E-07 | 1.80 | 3.25E-08 | 0.04 (C) | 0 (C) | 0 (C) | 0 (C) | ESN 0.08 (C) | |
| 6 | 32553401 | HLA-DRB1 | rs144404284 | G | A | 0.048 | 1.66 | 8.14E-07 | 1.79 | 3.54E-08 | 0.05 (A) | 0.02 (A) | 0.05 (A) | 0.01 (A) | — | |
| 6 | 32589502 | HLA-DQA1 | rs114210446 | A | G | 0.033 | 1.80 | 5.73E-07 | 1.92 | 4.11E-08 | 0.05 (G) | 0 (G) | 0.01 (G) | 0 (G) | — | |
| 6 | 32425875 | HLA-DRA | rs140228374a | C | T | 0.036 | 1.75 | 6.46E-07 | 1.87 | 4.17E-08 | 0.04 (T) | 0 (T) | 0 (T) | 0 (T) | ESNa0.08 (T) | |
| 6 | 32543575 | HLA-DRB1 | rs41294271 | C | T | 0.210 | 1.36 | 2.72E-06 | 1.45 | 4.27E-08 | 0.09 (T) | Observed variant without frequency or population information | — | |||
A1, tested allele; A2, alternate allele; Chr, chromosome; EAS, East Asian; ESN, Esan in Nigeria; (data from 1000 genome phase 3); EUR, European; Freq, frequency; LWK, Luhya in Webuye, Kenya; MAF, minor allele frequency; SAS, South Asian; YRI, Yoruba in Ibadan, Nigeria.
African-specific SNP (monomorphic in EAS, EUR, and SAS).