TABLE 1.

Main clinical, biochemical, and histological parameters of biopsy-proven NAFLD patients and controls grouped according to TM6SF2 C/T polymorphism (n = 120)

	Controls			NAFLD
	TCM6F2 CC (n = 40)	TCM6F2 CT/TT (n = 20)	P	TM6SF2 CC (n = 40)	TM6SF2 CT/TT (n = 20)	P
Age (years)	42 ± 2	42 ± 2	0.851	42 ± 2	40 ± 2	0.851
Sex (% males)	68	65	0.693	68	65	0.693
BMI (kg/m2)	25.6 ± 0.5	25.9 ± 0.6	0.731	25.6 ± 0.5	25.8 ± 0.6	0.690
Fat mass (%)	22 ± 2	22 ± 2	0.872	23 ± 2	22 ± 2	0.232
Waist (cm)	89 ± 3	90 ± 4	0.482	89 ± 2	90 ± 2	0.426
WHR	0.91 ± 0.02	0.91 ± 0.03	0.756	0.92 ± 0.03	0.92 ± 0.03	0.731
AVF (cm2)	99 ± 5	103 ± 6	0.731	101 ± 5	97 ± 6	0.832
Smokers (%)	31	30	0.410	33	31	0.390
Systolic BP (mm Hg)	118 ± 3	123 ± 2	0.291	121 ± 2	127 ± 2	0.280
Diastolic BP (mm Hg)	80 ± 2	84 ± 2	0.130	83 ± 2	87 ± 5	0.122
AST (U/l)	15 ± 1	16 ± 2	0.591	32 ± 2	41 ± 4c	0.131
ALT (U/l)	19 ± 2	2312	0.678	70 ± 5	88 ± 6c	0.111
GGT (U/l)	35 ± 5	43 ± 4	0.702	89 ± 16	108 ± 18	0.089
Tg (mg/dl)	98 ± 211	86 ± 10	0.879	94 ± 17	85 ± 13	0.561
Total Chol (mg/dl)	179 ± 9	168 ± 7	0.311	187 ± 11	173 ± 12	0.132
HDL-C (mg/dl)	54 ± 2	55 ± 2	0.210	52 ± 2b	54 ± 2c	0.118
LDL-C (mg/dl)	103 ± 6	94 ± 6	0.131	107 ± 5	95 ± 10	0.210
Glucose (mg/dl)	99 ± 3	90 ± 3	0.394	100 ± 10	90 ± 7	0.273
Insulin (μU/ml)	7.2 ± 1.8	6.3 ± 1.2	0.569	13.7 ± 3.8	15.9 ± 6.4	0.543
HOMA-IR	1.9 ± 0.9	1.3 ± 0.8	0.298	3.55 ± 1.1	2.9 ± 0.90	0.220
METS (h/week)	21.2 ± 1.0	22.2 ± 1.7	0.413	22.7 ± 1.5	21.9 ± 1.4	0.639
RQ	0.81 ± 0.01	0.77 ± 0.01	0.001	0.81 ± 0.01	0.78 ± 0.01	0.003
npRQ	0.81 ± 0.02	0.76 ± 0.01	0.001	0.82 ± 0.01	0.77 ± 0.01	0.0009
REE (kcal/24 h/kg/FFM)	29.5 ± 1.8	29.9 ± 2.0	0.711	29.7 ± 1.5	28.4 ± 1.7	0.302
Fatox (mg/kg/FFM/min)	1.23 ± 0.05	1.54 ± 0.05	0.0009	1.22 ± 0.06	1.50 ± 0.08	0.002
CHOox (mg/kg/FFM/min)	2.00 ± 0.10	1.42 ± 0.11	0.001	1.99 ± 0.11	1.45 ± 0.10	0.002
Hs-CRP (mg/l)	1.9 ± 0.2	1.1 ± 0.4	0.009	3.1 ± 02a	2.0 ± 02b	0.001
E-selectin (ng/ml)	31.1 ± 3.1	20.1 ± 4.6	0.010	51.3 ± 4.8a	28.9 ± 3.1b	0.002
ICAM-1(ng/ml)	239.1 ± 4.6	191.8 ± 5.3	0.028	285.1 ± 5.2a	228.6 ± 6.0b	0.009
TNF-α (pg/ml)	1.20 ± 0.18	1.08 ± 0.21	0.512	1.18 ± 0.17	0.99 ± 0.25	0.471
Leptin (pg/ml)	1,830 ± 399	1,793 ± 224	0.430	1,746 ± 275	1,914 ± 201	0.711
ApoE genotype (%)
2-3	16	14	0.573	14	16	0.689
3-3	66	67	0.312	67	67	0.911
3-4	18	19	0.690	19	17	0.892
PNPLA3 (%)
CC	41	55	0.671	41	55	0.671
CG	41	33	0.312	41	33	0.312
GG	8	12	0.218	8	12	0.218
Abdominal obesity (%)	17	20	0.691	17	20	0.691
IGR (%)	19	8	0.231	21	10	0.289
Hypertension (%)	30	27	0.379	51	49	0.592
Low HDL-C (%)	13	9	0.398	16	9	0.401
High Tg (%)	13	9	0.412	14	8	0.379
Met sy (%)	37	29	0.311	40§	31c	0.297
Steatosis (% hep.)	—	—	—	25 ± 3	32 ± 4	0.168
NAFLD activity score			—	2.0 ± 0.2	4.0 ± 0.3	0.0001
Fibrosis stage	—	—	—	0.2 ± 0.1	1.0 ± 0.2	0.0001
NASH (%)	—	—	—	31	61	0.045

Data are presented as mean ± SEM, unless otherwise specified. Statistically significant P values are in bold. AVF, abdominal visceral fat area; BP, blood pressure; hs-CRP, highly sensitive CRP; WHR, waist-on-hip ratio; IGR, impaired glucose regulation; METS, metabolic equivalent of activity; Met sy, metabolic syndrome (according to the joint statement of the American Diabetes Association, the International Diabetes Federation, and the National Heart, Lung, and Blood Institute); MTP, microsomal Tg transfer protein; SREBF, sterol regulatory element-binding factor. Met sy requires the presence of three or more of the following criteria: 1) abdominal obesity, waist circumference ≥102 cm (males) and ≥88 cm (females); 2) high Tgs, ≥150 mg/dl (1.7 mmol/l) or on drug treatment for elevated Tgs; 3) low HDL-C, <40 mg/dl (1.0 mmol/l) (males) or <50 mg/dl (1.3 mmol/l) (females) or on drug treatment for reduced HDL-C; 4) hypertension, systolic BP ≥130 mm Hg and/or diastolic BP ≥85 mm Hg or on drug treatment; 5) high fasting plasma glucose (FPG): FPG ≥100 mg/dl (5.6 mmol/l) or on drug treatment for elevated glucose.

^aP < 0.01 versus controls.

^bP < 0.05 versus controls bearing the same genotype.

^cP < 0.01 versus controls bearing the same genotype.