Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis

Table 3

Non-HLA risk loci identified through GWAS as associated with PBC at the genome-wide level of significance.

Chromosome	Locus	Study; reference	SNP	OR	value	Candidate gene(s)	Disease(s) with shared risk loci
1	1p31	[35]	rs72678531	1.61		IL12RB2	BD
	1p36	[30]	rs3748816	1.33		MMEL1	MS
	1q31	[32]	rs12134279	1.34		DENND1B	CD
2	2q12	[36]	rs12712133	1.14		IL1RL1, IL1RL2,
	2q12	[34]	rs10186746	1.21		IL1RL1, IL1RL2,
	2q32	[32]	rs10931468	1.50		STAT4, STAT1	RA, SLE, Sjögren’s, IBD, SSc, BD
	2q36	[36]	rs4973341	1.22		CCL20
3	3p24	[32]	rs1372072	1.20		PLCL2	RA
	3q13	[35]	rs2293370	1.39		CD80	MS, SLE, Celiac
	3q25	[35]	rs2366643	1.35		IL12A	Celiac
4	4p16	[36]	rs11724804	1.22		DGKQ
	4q24	[32]	rs7665090	1.26		NFKB1	UC
5	5p13	[35]	rs6871748	1.30		IL7R	MS, UC
	5q21	[36]	rs526231	1.15		C5orf30
	5q33	[36]	rs2546890	1.15		IL12B, LOC285626
6	6q23	[36]	rs6933404	1.18		OLIG3, TNFAIP3
	6q23	[34]	rs6920220	1.29		OLIG3, TNFAIP3
7	7p14	[32]	rs6974491	1.25		ELMO1	RA, Celiac
	7q32	[35]	rs35188261	1.52		IRF5	RA, SLE, SSc, UC
8	8q24	[34]	rs2608029	1.23		PVT1, GSDMC
9	9p32	[33]	rs4979462	1.57		TNFSF15	UC, CD
11	11q13	[32]	rs538147	1.23		RPS6KA4	IBD
	11q13	[34]	rs10898201	1.31		NADSYN1
	11q23	[33]	rs4938534	1.38		POU2AF1
	11q23	[35]	rs80065107	1.39		CXCR5, DDX6	RA, IBD, Celiac
12	12p13	[35]	rs1800693	1.27		TNFRSF1A, LTBR	MS
	12q24	[35]	rs11065979	1.20		SH2B3	RA, T1DM, Hyperthyroidism, Celiac
	12q24	[34]	rs7309325	1.26		SH2B3	RA, T1DM, Hyperthyroidism, Celiac
13	13q14	[34, 35]	rs3862738	1.33		TNFSF11	CD
14	14q24	[35]	rs911263	1.26		RAD51B	RA
	14q32	[32]	rs8017161	1.22		TNFAIP2
16	16p13	[35]	rs12708715	1.29		CLEC16A, SOCS1	MS, UC, T1DM
	16q24	[32]	rs11117432	1.31		IRF8	MS, IBD, RA, SSc
17	17q12	[35]	rs17564829	1.26		IKZF3	UC, CD, RA, T1DM
	17q21	[35]	rs17564829	1.25		MAPT
19	19p12	[35]	rs34536443	1.91		TYK2	IBD, RA, SLE, psoriasis, T1DM
	19p13	[34]	rs73003205	1.35		KIAA1683
	19q13	[31]	rs3745516	1.46		SPIB
22	22q13	[35]	rs2267407	1.29		SYNGR1

CD, Crohn’s disease; UC, ulcerative colitis; T1DM, type 1 diabetes mellitus.