Table 5 Distribution of keratin variants among DILI patients stratified by causality scores
From: Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury
Variant | Causalitye | |||||
|---|---|---|---|---|---|---|
Definitive | Very likely | Probable | Possible | Unlikely | Total | |
# (%) | # (%) | # (%) | # (%) | # (%) | # (%) | |
190 (23.8) | 312 (39.0) | 148 (18.5) | 110 (13.8) | 39 (4.8) | 800 (100) | |
K8 Y54H | 0 | 0 | 0 | 1 (0.9) | 0 | 1 (0.1) |
K8 G62C | 3 (1.6) | 5 (1.6)b | 2 (1.4) | 1 (0.9) | 0 | 11 (1.4) |
K8 I63V | 2 (1.1) | 3 (1.0) | 2 (1.4) | 0 | 2 (5.1) | 9 (1.1) |
IVS1+30G>A | 0 | 0 | 1 (0.7) | 0 | 0 | 1 (0.1) |
K8 A333A | 3 (1.6) | 2 (0.6) | 3 (2.3) | 4 (3.6)d | 3 (7.7) | 15 (1.9) |
K8 R341H | 8 (4.2)a | 14 (4.5)b | 8 (5.4) | 9 (8.2) | 1 (2.6) | 40 (5.0) |
K8 I346V | 0 | 1 (0.3)c | 0 | 0 | 0 | 1 (0.1) |
K8 A351V | 1 (0.5) | 0 | 0 | 0 | 0 | 1 (0.1) |
K8 A358V | 1 (0.5) | 0 | 0 | 0 | 0 | 1 (0.1) |
K8 V380I | 1 (0.5) | 0 | 0 | 1 (0.9) | 1 (2.6) | 3 (0.4) |
K8 K393R | 0 | 0 | 1 (0.7) | 0 | 0 | 1 (0.1) |
IVS6+46A>T | 2 (1.1) | 3 (1.0)c | 4 (2.7) | 1 (0.9) | 0 | 10 (1.3) |
K8 G434S | 2 (1.1) | 2 (0.6) | 2 (1.4) | 4 (3.6)d | 0 | 10 (1.3) |
K8 V461V | 0 | 0 | 0 | 0 | 1 (2.6) | 1 (0.1) |
K8 V480I | 0 | 5 (1.6) | 2 (1.4) | 0 | 0 | 7 (0.9) |
IVS8+8C>T | 1 (0.5) | 0 | 0 | 0 | 0 | 1 (0.1) |
IVS8+38G>A | 0 | 0 | 0 | 1 (0.9) | 0 | 1 (0.1) |
IVS8+27del9nt | 0 | 0 | 0 | 1 (0.9) | 0 | 1 (0.1) |
K18 -11C>T | 1 (0.5)a | 0 | 0 | 0 | 0 | 1 (0.1) |
K18 Δ65-72 | 0 | 1 (0.3) | 0 | 0 | 0 | 1 (0.1) |
K18 D89H | 0 | 1 (0.3) | 0 | 0 | 0 | 1 (0.1) |
# (%) patients with amino acid-altering variants | 18 (9.5) | 31 (9.9) | 17 (11.5) | 16 (14.6) | 4 (10.3) | 86 (10.8) |
# (%) patients with intronic variants | 4 (2.1) | 3 (1.0) | 5 (3.4) | 3 (2.7) | 0 | 15 (1.9) |