Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload

Table 2 HFE coding region allele frequency in individuals exhibiting congenital or acquired iron overload and healthy control population

Allele	SNPs sequences	Population frequencies (f)
		IO-				IO+								IO?		Whole
	1-2-3-4-5-63	CTL		HCV-IO-		HCV-IO+		HCC HCV-IO+		HH		TOTAL		HCC-IO?
		n = 100	%	n = 59	%	n = 71	%	n = 24	%	n = 28	%	n = 109	%	n = 36	%	n = 304		%
HFE*0014	C-T-C-G-T-G	107	0.54	74	0.63	86	0.61	23	0.48	42	0.14	113	0.52	40	0.56	334	0.55
HFE*001:unofficial:025	C-C-C-G-T-G	28	0.14	12	0.10	15	0.11	3	0.06	1	0.04	19	0.09	4	0.06	63	0.10
HFE*001:unofficial:035	C-T-G-G-T-G	8	0.04	2	0.02	1	0.01	0	0.00	0	0.00	1	0.00	2	0.03	12	0.02
HFE*001:unofficial:045	C-T-C-G-C-G	0	0.00	0	0.00	1	0.01	1	0.02	0	0.00	2	0.01	1	0.01	3	< 0.01
HFE*001:unofficial:055	C-C-C-G-C-G	13	0.07	11	0.09	16	0.11	71	0.15	0	0.00	23	0.11	12	0.17	59	0.10
HFE*001:unofficial:065	C-C-G-G-T-Del	1	0.01	0	0.00	0	0.00	0	0.00	0	0.00	0	0.00	0	0.00	1	< 0.01
HFE*0024	G-C-C-G-T-G	35	0.17	16	0.13	20	0.14	91	0.19	3	0.11	32	0.15	8	0.11	92	0.15
HFE*0034	C-T-C-A-T-G	8	0.04	3	0.02	3	0.02	3	0.06	202	0.71	26	0.12	4	0.06	40	0.06
HFE*0044	G-C-C-A-T-G	0	0.00	0	0.00	0	0.00	1	0.02	0	0.00	1	0.00	0	0.00	1	< 0.01
Number of alleles		200		118		142		48		28		218		72		608

Patients with hereditary hemochromatosis (HH), patients with hepatitis C exhibiting (HCV-IO⁺) or not (HCV-IO^-) iron overload, hepatocellular carcinoma (HCC) plus HCV-IO⁺, HCC caused by diverse etiologies other than HCV and without information regarding iron overload (HCC-IO^?), and population healthy control individuals (CTL).

¹HCC HCV-IO⁺ x CTL: HFE*001:unofficial:06/HFE*002 (P = 0.02; OR = 14.14; 95%CI: 1.40-142.80);

²HH x CTL: HFE*001 (P < 0.001; OR = 0.14; 95%CI: 0.04-0.43), HFE*003 (P < 0.001; OR = 60.00; 95%CI: 20.31-177.20), HFE*001/HFE*003 (P = 0.03; OR = 7.20; 95%CI: 1.40-36.85), HFE*003/HFE*003 (P < 0.001; OR = 174.20; 95%CI: 8.92-400.00);

³ Order of base changes for each single nucleotide polymorphism (SNP) observed, encompassing H63DC>G; IVS2(+4)T>C; rs807209G>C; C282YG>A; IVS4(-44)T>C; new deletionG>DEL (5’ to 3’);

⁴Alleles recognized by ImMunoGeneTics information system – IMGT;

⁵Alleles in validation process.