Table 2. Summary of lead SNPs associated with genome-wide significance for Behçet’s disease susceptibility.
Variant | Gene | Location | Risk Allele |
OR | Population |
Function of the risk allele | Ref. | |
---|---|---|---|---|---|---|---|---|
Discovery | Replication | |||||||
rs1495965 | IL23R,IL12RB2 | Intergenic | G | 1.35 | Japanese | Turkish | [56] | |
rs924080 | IL23R,IL12RB2 | Intergenic | A | 1.28 | Turkish, Japanese |
[57] | ||
rs1518111 | IL10 | Intron | A | 1.45 | Turkish | Greek, UK, Iranian, Middle Eastern Arab, Japanese, Han Chinese |
Reduces expression in monocytes | [57, 64] |
rs1800871 | IL10 | Promoter | T | 1.45 | Japanese | Turkish, Korean, Han Chinese |
[56, 64] | |
rs9494885 | TNFAIP3 | Intergenic | C | 1.81 | Han Chinese | No difference in expression in PBMCs | ||
rs7574070 | STAT4 | Intron | A | 1.27 | Turkish | Japanese | Increases expression | [59] |
rs897200 | STAT4 | Intergenic | A | 1.45 | Han Chinese | Increases expression of STAT4 and IL17 | [61] | |
rs7616215 | CCR1 | Intergenic | T | 1.39 | Turkish | Japanese | Decreases expression in monocytes Reduces monocyte chemotaxis |
[59] |
rs13092160 | CCR1, CCR3 | Intergenic | T | 3.13 | Han Chinese | Decreases expression in PBMCs | [100] | |
rs2617170 | KLRC4 | Missense | C | 1.28 | Turkish | Japanese | [59] | |
M694V | MEFV | Missense | V | 2.65 | Turkish | Increases response to LPS | [69] | |
rs17482078 | ERAP1 | Missense | TT2 | 4.56 | Turkish | [59] | ||
rs681343 | FUT2 | Synonymous | T | 1.30 | Iranian, Turkish | r2 = 1 with a nonsecretor allele (rs601338) | [57, 62] | |
rs17810546 | IL12A | Intergenic | A/G3 | 1.66 | Turkish, Mixed populations |
[59, 63] | ||
R381Q, G149R1 |
IL23R | Missense | Protective | Turkish, Japanese |
Reduces IL-23 dependent IL-17 (R381Q) | [69] | ||
D299G, T399I1 | TLR4 | Missense | Protective | Turkish, Japanese |
Reduces response to LPS Hyporesponsiveness to endotoxin |
[69] | ||
R702W, G908R L1007fs1 |
NOD2 | Missense Frame shift |
Protective | Turkish, Japanese |
Reduces response to MDP | [69] |
Variants from targeted sequencing study without single variant based genome-wide significance.
Homozygotes of rs17482078 showed genome wide significance in BD patients with uveitis.
The reported disease risk allele is different between studies.