Table 1.

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

Study	Platform	Cases (n)	Controls (n)	Locus	SNP	Associated Genes	OR (95% CI)	p-value
Hirschfield et al.	Illumina HumanHap370	1031	2713	1p31	rs3790567	IL12RB2	1.51 (1.33–1.70)	2.76 × 10–11
				3q25	rs6441286	IL12A	1.54 (1.38–1.72)	2.42 × 10–14
Liu et al.	Illumina 610K	945	4651	7q32	rs10488631	IRF5-TNPO3	1.57 (1.38–1.77)	8.66 × 10–13
				17q12	rs9303277	IKZF3, ORMDL3	1.38	1.69 × 10–9
				19q13	rs3745516	SPIB	1.46	7.97 × 10–11
Mells et al.	Illumina 660W-Quad	1840	5163	1q31	rs12134279	DENND1B	1.34 (1.25 – 1.45)	2.06×10–14
				2q32	rs10931468	STAT4, STAT1	1.50 (1.37 – 1.64)	2.35×10–19
				3q13	rs2293370	CD80	1.35 (1.23 – 1.47)	2.53×10–11
				3p24	rs1372072	PLCL2	1.20 (1.12–1.27)	2.28×10–8
				4q24	rs7665090	NFKB1	1.26 (1.18 – 1.34)	4.06×10–12
				5p13	rs860413	IL7R	1.30 (1.21 – 1.40)	1.02×10–11
				7p14	rs6974491	ELMO1	1.25 (1.16 – 1.36)	4.44×10–8
				11q13	rs538147	RPS6KA4	1.23 (1.15–1.31)	2.06×10–10
				11q23	rs6421571	CXCR5, DDX6	1.37 (1.25 – 1.50)	2.69×10–12
				12p13	rs1800693	TNFRSF1A	1.22 (1.14 – 1.30)	1.80×10–9
				14q24	rs911263	RAD51B	1.29 (1.20 – 1.39)	1.76×10–11
				14q32	rs8017161	TNFAIP2	1.22 (1.16–1.27)	2.61 × 10–13
				16p13	rs12924729	CLEC16A, SOCS1	1.29 (1.20 – 1.38)	2.95×10–12
				16q24	rs11117432	IRF8	1.31 (1.21 – 1.43)	4.66×10–11
				22q13	rs968451	TAB1, SYNGR1	1.27 (1.18 – 1.38)	1.08×10–9
Nakamura et al.	Affymetrix Axiom	1274	1091	9q32	rs4979462	TNFSF15	1.56 (1.39–1.76)	2.84 × 10–14
				11q23	rs4938534	POU2AF1	1.39 (1.24–1.56)	2.38 × 10–8
Juran et al.	Immunochip	2426	5731	13q14	rs3862738	TNFSF11	1.33 (1.20 – 1.47)	2.18×10–8
Liu et al.	Immunochip	2861	8514	12q24	rs11065979	SH2B3	1.27 (1.19–1.34)	1.18×10–14
				17q21	rs17564829	MAPT	1.25 (1.16–1.35)	2.15×10–9
				19p12	rs34536443	TYK2	1.29 (1.21–1.38)	1.29×10–13
Hirschfield et al.*	Illumina HumanHap370	1351	4700	1p36	rs3748816	MMEL1	1.33 (1.20–1.47)	3.15 × 10–8

^*replication study of suggestive SNPs from previous GWAS in larger cohort