Table 1.
Clinical and genetic features of 251 individuals who underwent whole exome sequencing for evaluation of germline variants in candidate genes involved in liver disease and cancer predisposition.
| HCC discovery (n = 72) | HCC replication (n = 70) | p value (discovery vs. replication) | Advanced fibrosis (n = 59) | Healthy individuals (n = 50) | p value (HCC vs. no-HCC) | |
|---|---|---|---|---|---|---|
| Age, years | 68 ± 9 | 74 ± 7 | <0.0001 | 59 ± 10 | 49 ± 12 | <0.0001 |
| Sex, F | 17 (24%) | 10 (20%) | 0.15 | 21 (36%) | 17 (34%) | 0.048 |
| BMI, Kg/m2 | 29.8 ± 5.8 (n = 58) | 32.7 ± 8.2 (n = 45) | 0.12 | 31.3 ± 4.9 (n = 44) | 24.6 ± 2.5 (n = 50) | <0.0001 |
| Type 2 Diabetes, yes | 43 (61%) | 36 (62%) | 0.72 | 33 (56%) | 0 | <0.0001 |
| PNPLA3 I148M | ||||||
| I/I | 18 (25%) | 14 (20%) | 0.2 | 13 (22%) | 28 (56%) | 0.13 |
| I/M | 30 (42%) | 32 (46%) | 26 (44%) | 21 (42%) | ||
| M/M | 24 (33%) | 24 (34%) | 20 (34%) | 1 (2%) | ||
| TM6SF2, E167K | ||||||
| E/E | 57 (79%) | 53 (76%) | 0.84 | 47 (80%) | 38 (76%) | 0.59 |
| E/K | 14 (20%) | 14 (20%) | 12 (20%) | 12 (24%) | ||
| K/K | 1 (1%) | 3 (4%) | 0 | 0 | ||
| MBOAT7, rs641738 C > T | ||||||
| C/C | 18 (25%) | 24 (34%) | 0.032 | 20 (34%) | 19 (38%) | 0.32 |
| C/T | 31 (43%) | 38 (54%) | 26 (44%) | 23 (46%) | ||
| T/T | 23 (32%) | 8 (12%) | 13 (22%) | 8 (16%) | ||
BMI: body mass index; HCC hepatocellular carcinoma; PNPLA3: patatin-like phospholipase domain-containing protein 3; TM6SF2: transmembrane 6 superfamily member 2; MBOAT7: membrane bound O-acyltranferase domain containing 7; GCKR: glucokinase regulatory protein. Data were compared by univariate generalized linear models.