Association between inherited monogenic liver disorders and chronic hepatitis C

Table 1 Genotyping methods used in the present study

Disease	Gene	Mutation	rs1	Analysis method
Hereditary hemochromatosis	HFE	C282Y	rs1800562	PCR-RFLP with restrictase RsaI[18]
		H63D	rs1799945	PCR-RFLP with restrictase MboI[18]
Gilbert’s syndrome	UGT1A1	(TA)7, UGT1A1*28	rs8175347	Fluorescent PCR[20]
Alpha-1 antitrypsin deficiency	SERPINA1	PIZ	rs28929474	Bi-PASA[19]
Wilson’s disease	ATP7B	H1069Q	rs76151636	Bi-PASA[4]

¹Single nucleotide polymorphism database number (http://www.ncbi.nlm.nih.gov/snp/). PCR: Polymerase chain reaction; RFLP: Restriction fragment length polymorphism analysis; Bi-PASA: Bidirectional PCR allele-specific amplification.

Table 2 Allelic frequencies in patient and control groups

Gene	rs1	Mutation	Patients	Controls	OR	95%CI	P value
			(n = 86)	(n = 271)
UGT1A1	rs8175347	(TA)7	0.371	0.350	1.098	0.643-1.871	0.796
HFE	rs1799945	C282Y	0.048	0.035	1.420	0.358-5.218	0.522
	rs1800562	H63D	0.096	0.121	0.740	0.301-1.760	0.563
ATP7B	rs76151636	H1069Q	0.057	0.012	5.514	1.119-29.827	0.022
SERPINA1	rs28929474	PIZ	0.012	0.016	0.363	0.013-5.158	0.576

¹Single nucleotide polymorphism database number (http://www.ncbi.nlm.nih.gov/snp/). OR: Odds ratio.

Table 3 Characterization of the patient group

	Result of antiviral therapy	Mean	95%CI of mean		P value
			Lower bound	Upper bound
Age in year at diagnosis	Sustained viral response	38.76	34.88	42.64	0.788
	Viral persistence	37.87	32.07	43.66
	Total	38.43	35.24	41.61
Alanine transaminase level	Sustained viral response	106.45	81.73	131.17	0.056
	Viral persistence	153.75	104.27	203.23
	Total	123.65	99.86	147.44
Iron level	Sustained viral response	20.84	18.19	23.49	0.015
	Viral persistence	29.92	22.05	37.80
	Total	24.71	20.98	28.45
Ferritin level	Sustained viral response	298.67	185.52	411.82	0.354
	Viral persistence	397.79	197.96	597.62
	Total	336.09	231.98	440.20
Viral load	Sustained viral response	1.91E + 06	1.12E + 06	2.70E + 06	0.115
	Viral persistence	4.21E + 06	5.15E + 05	7.90E + 06
	Total	2.75E + 06	1.35E + 06	4.14E + 06