Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis

Table 1 Demographic, anthropometric, clinical, and histological features, as evaluated at diagnosis, of 174 Italian patients with homozygous for the C282Y HFE mutation of hereditary hemochromatosis subdivided according to the PNPLA3 I148M genotype

	All patients	PNPLA3 I148M genotype			Pvalue
		I/I	I/M	M/M
n (%)	174	82 (47)	70 (40)	22 (13)
Age (yr)	47 ± 13	46 ± 13	47 ± 14	50 ± 11	0.22
Gender F (%)	49 (28)	24 (30)	19 (27)	6 (27)	0.79
DAI (g)	10 (0-20)	10 (0-20)	5 (0-20)	10 (0-20)	0.98
BMI (kg/m2)	24 ± 3	24 ± 3	24 ± 3	25 ± 2	0.11
Diabetes (%)	16 (9)	7 (9)	6 (9)	3 (14)	0.57
Total cholesterol (mg/dL)	191 ± 44	197 ± 37	186 ± 50	182 ± 44	0.25
HDL cholesterol (mg/dL)	53 ± 16	53 ± 14	53 ± 17	57 ± 15	0.47
Triglycerides (mg/dL)	120 ± 66	123 ± 64	122 ± 74	99 ± 35	0.30
TS %	80 ± 16	80 ± 16	79 ± 15	81 ± 23	0.94
Ferritin	1000	1018	947	1053	0.36
(ng/mL)	(509-1800)	(490-1813)	(516-1732)	(504-2101)
AST (IU/mL)	34 ± 21	31 ± 16	35 ± 24	44 ± 29	0.019
ALT (IU/mL)	46 ± 32	41 ± 26	47 ± 34	55 ± 45	0.06
GGT (IU/mL)	24 (16-37)	24 (17-37)	24 (15-38)	23 (14-30)	0.95
Steatosis1 (%)	55 (48)	18 (31)	29 (58)	8 (53)	0.014
Advanced fibrosis %	18 (10)	9 (11)	7 (10)	2 (9)	0.95
(Ishak 4) %
Cirrhosis	32 (18)	13 (16)	14 (20)	5 (23)	0.39
(Ishak 5-6) %

¹Available in 123 patients. I: Ileucine; M: Methionine; n: Number; F: Female; DAI: Daily alcohol intake; BMI: Body mass index; HDL: High density lipoprotein cholesterol; TS: Transferrin saturation; AST: Aspartate aminotransferase; ALT: Alanine aminotransaminase; GGT: γ-glutamyl transferase.