Table 6 Distribution of keratin variants among DILI patients stratified by laboratory injury profile
From: Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury
Variant | Injury type | |||
|---|---|---|---|---|
Hepatocellular | Cholestatic | Mixed | Total | |
# (%) | # (%) | # (%) | # (%) | |
438 (54.8) | 198 (24.7) | 164 (20.5) | 800 (100) | |
K8 Y54H | 0 | 1 (0.5) | 0 | 1 (0.1) |
K8 G62C | 5 (1.1) | 4 (2.0)c | 2 (1.2) | 11 (1.4) |
K8 I63V | 8 (1.8) | 1 (0.5) | 0 | 9 (1.1) |
IVS1+30G>A | 0 | 0 | 1 (0.6) | 1 (0.1) |
K8 A333A | 4 (0.9) | 7 (3.5)d | 4 (2.4) | 15 (1.9) |
K8 R341H | 21 (4.8)a | 10 (5.0)c | 9 (5.5) | 40 (5.0) |
K8 I346V | 1 (0.2)b | 0 | 0 | 1 (0.1) |
K8 A351V | 1 (0.2) | 0 | 0 | 1 (0.1) |
K8 A358V | 0 | 1 (0.5) | 0 | 1 (0.1) |
K8 V380I | 0 | 1 (0.5) | 2 (1.2) | 3 (0.4) |
K8 K393R | 0 | 1 (0.5) | 0 | 1 (0.1) |
IVS6+46A>T | 7 (1.6)b | 1 (0.5) | 2 (1.2) | 10 (1.3) |
K8 G434S | 5 (1.1) | 5 (2.5)d | 0 | 10 (1.3) |
K8 V461V | 1 (0.2) | 0 | 0 | 1 (0.1) |
K8 V480I | 5 (1.1) | 2 (1.0) | 0 | 7 (0.9) |
IVS8+8C>T | 1 (0.2) | 0 | 0 | 1 (0.1) |
IVS8+38G>A | 0 | 0 | 1 (0.6) | 1 (0.1) |
IVS8+27del9nt | 1 (0.2) | 0 | 0 | 1 (0.1) |
K18 -11C>T | 1 (0.2)a | 0 | 0 | 1 (0.1) |
K18 Δ65-72 | 1 (0.2) | 0 | 0 | 1 (0.1) |
K18 D89H | 0 | 1 (0.5) | 0 | 1 (0.1) |
# (%) patients with amino acid-altering variants | 46 (10.5) | 27 (13.6) | 13 (7.9) | 86 (10.8) |
# (%) patients with intronic variants | 10 (2.3) | 1 (0.5) | 4 (2.4) | 15 (1.9) |