Table 1.
Non-HLA risk loci for primary biliary cirrhosisa)
| Locus | SNP | Odd ratio | P-value | Candidate gene | Diseases sharing risk loci with PBCb),c) |
|---|---|---|---|---|---|
| 1p36 [85] | rs3748816 | 1.33 | 3.15E-08 | MMEL1 | - |
| 1p31.3 [38] | rs72678531 | 1.61 | 2.47E-38 | IL12RB2 | - |
| 1q31.3 [38] | rs2488393 | 1.28 | 4.29E-12 | DENND1B | CD |
| 2q32.2 [38] | rs3024921 | 1.62 | 2.59E-18 | STAT4 | CeD, Ra, T1DM, SLE, SSc |
| 3p24.3 [38] | rs1372072 | 1.2 | 2.28E-08 | PLCL2 | MS |
| 3q13.3 [38] | rs2293370 | 1.39 | 6.84E-16 | CD80 | MS, CeD, Vit |
| 3q25.33 [38] | rs2366643 | 1.35 | 3.92E-22 | IL12A | MS, CeD |
| 4q24 [38] | rs7665090 | 1.26 | 8.48E-14 | NFKB1 | MS,UC |
| 5p13 [38] | rs6871748 | 1.3 | 2.26E-13 | IL7R | MS, UC |
| 7p14.1 [38] | rs6974491 | 1.57 | 4.44E-08 | ELMO1 | MS, CeD, PS |
| 7q32 [38] | rs35188261 | 1.52 | 6.52E-22 | IRF5 | UC, RA, SLE, SSc, |
| 9q32 [18] | rs4979462 | 1.57 | 1.85E-14 | TNFSF15 | UC, CD |
| 11q13 [17] | rs538147 | 1.23 | 2.06E-10 | RPS6KA4 | MS, CD, PS, SARC |
| 11q23.3 [38] | rs80065107 | 1.39 | 7.20E-16 | CXCR5 | MS, CeD, SLE, VIT |
| 11q23 [38] | rs4938534 | 1.38 | 3.27E-08 | POU2AF1 | CeD |
| 12p13.2 [38] | rs1800693 | 1.27 | 1.18E-14 | TNFRSF1A | MS CeD, RA, T1DM, VIT, AITD, |
| 12q24 [38] | rs11065979 | 1.2 | 2.87E-09 | SH2B3 | PSC |
| 13q14 [10] | rs3862738 | 1.33 | 2.18E-08 | TNFSF11 | CD |
| 14q24 [38] | rs911263 | 1.26 | 9.95E-11 | RAD51B | - |
| 14q32 [8] | rs8017161 | 1.22 | 2.61E-13 | TNFAIP2 | - |
| 16p13.13 [38] | rs12708715 | 1.29 | 2.19E-13 | CLEC16A | MS, UC, T1DM |
| 16q24.1 [38] | rs11117433 | 1.26 | 1.41E-09 | IRF8 | MS, UC, RA, SSc |
| 17q12 [38] | rs17564829 | 1.26 | 6.05E-14 | IKZF3 | UC, CD, RA, T1DM |
| 17q21.1 [38] | rs17564829 | 1.25 | 2.15E-09 | CRHR1 | - |
| 19p13.2 [38] | rs34536443 | 1.91 | 1.23E-12 | TYK2 | MS, CD, RA, T1DM, SLE, PS |
| 19q13.3 [38] | rs3745516 | 1.46 | 7.97E-11 | SPIB | - |
| 22q13.1 [38] | rs2267407 | 1.29 | 1.29E-13 | MAP3K7IP1 | CD |
a)
This table reports risk loci identified at genome-wide level of significance in at least one genome-wide association study or iCHIP study of primary biliary cirrhosis. For each locus, results are from the study with strongest evidence of association.
b)
Phenotypically-associated disorders that share risk loci with PBC are listed.
c)
AITD, autoimmune thyroid disease; CD, Crohn's disease; CeD, celiac disease; T1DM, diabetes mellitus type 1; MS, multiple sclerosis; PS, psoriasis; RA, rheumatoid arthritis; SARC, sarcoidosis; SLE, systemic lupus erythematosis; SSc, systemic sclerosis; UC, ulcerative colitis; VIT, vitiligo.