Genetic association of cytokines polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in the Chinese

Table 1 Clinical features in patients with AIH.

Clinical features	Female (n = 44)	Male (n = 18)
Age (yr)	50 (16-79)	47 (21-62)
Duration symptoms (mo)	36.4 (6134)	38.8 (1872)
Concurrent immunologic diseases	5	2
ALP:AST <1.5	44	11
1.53.0	5	2
Bilirubin (3.417.1 mmol/L)	62.4 (4084.7)	63.5 (4279.6)
Immunoglobulin G (7.616.6 g/L)	30.9 (18.134)	32.6 (1833.4)
ANA≥1:100	30	11
SMA≥1:100	3	1
ANA and SMA≥1:100	8	3
LKM-1≥1:100	1	1
SLA≥1:100	2	2
Average alcohol intake	<25 g/d	<25 g/d
Other autoantibodies
atypical pANCA≥1:32	13	4
PCA	7	4
TG or TM	4	0
AIH Score1	>15	>15

TG, thyroglobulin autoantibody; TM, thyromicrosomal autoantibody; PCA, parietal cell antibody.

¹AIH score: revised scoring system for diagnosis of AIH.

Table 2 PCR primer pairs for genotyping in cytokines gene.

Gene	Position	Primers	Product size (bp)
IL-1B	+3953	5'-GTTGTCATCAGACTTTGACC-3’	249
		5'-TTCAGTTCATATGCACCAGA-3’
IL-1RN	exon2	5'-GCCCCTCAGCAACACTCCTAT-3’
		5'-CATCTTCCTGGTCTGCAGG-3’	1
		5'-CATCTTCCTGGTCTGCAGC-3’
IL-6	-174G/C	5'-CCCTAGTTGTGTCTTGCC-3’	190
		5'-CCCTAGTTGTGTCTTGCG-3’	190
		5'-GAGCTTCTCTTTCGTTCC-3’
IL-10	-1082G/A	5'-TCTTACCTATCCCTACTTCC-3	139
		5'-CTCGCTGCAACCCAACTGGC-3’
	-819T/C	5'-AACTGAGGCACAGAGATG-3	402
		5'-AACTGAGGCACAGAGATA-3	402
		5'-AGCAACACTCCTCGCCGCAAC-3’
	592A/C	5'-GGTGAGCACTACCTGACTAGC-3	412
		5'-CCTAGGTCACAGTGACGTGG-3’
HLA-DRB1	5c	5'- TGC CAA GTG GAG CAC CCA A-3	7962
	3c	5'-GCA TCT TGC TCT GTG CAG AT-3’

¹Variable numbers of an 86 bp tandem repeat sequence.

²The inter-reference of allele-specific PCR.

Table 3 Genotype distributions of cytokines in AIH, PBC patients vs controls.

Cytokine	Genotype	Controls (%)	AIH (%)	P	PBC (%)	P
IL-1B	+3953
	1,1	155 (96.9)	61 (98.4)	0.53	75 (97.4)	0.82
	1,2	4 (2.5)	1 (1.6)	0.69	2 (2.6)	0.96
	2,2	1 (0.0)	0 (0)	0.53	0 (0)	0.46
IL-1RN	Intron 2
	1,1	127 (79.4)	51 (82.3)	0.63	70 (90.9)	0.026
	1,2	30 (17.5)	10 (16.1)	0.64	5 (6.5)	0.013
	2,2	3 (1.9)	1 (1.6)	0.90	2 (2.6)	0.75
	others	0 (0)	0 (0)	-	0 (0)	-
IL-6	-174 G/C1
	GG	160 (100)	62 (100)	-	73 (94.8)	0.0036
	GC	0 (0)	0 (0)	-	4 (5.2)	0.0036
	CC	0 (0)	0 (0)	-	0 (0)	-
IL-10	-1082G/A
	AA	144 (90.0)	54 (87.1)	0.53	64 (83.1)	0.13
	GA	16 (10.0)	8 (12.9)	0.53	13 (16.9)	0.13
	GG	0 (0)	0 (0)	-	0 (0)	-
	-819T/C
	CC	13 (8.1)	7 (11.3)	0.46	7 (9.1)	0.80
	CT	72 (45.0)	27 (43.6)	0.84	41 (53.3)	0.23
	TT	75 (46.9)	28 (45.2)	0.81	29 (37.7)	0.18
	-592A/C
	CC	16 (10.0)	10 (16.1)	0.2	11 (14.3)	0.33
	CA	83 (51.9)	32 (51.6)	0.97	41 (53.3)	0.84
	AA	61 (38.1)	20 (32.3)	0.41	25 (32.5)	0.4

¹The frequency of IL-6 -174C allele in PBC group vs control, P = 0.0038.