From: Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury
Variant | Severity | |||||
---|---|---|---|---|---|---|
Fatal (5) | Severe (4) | Mod hosp (3) | Mod (2) | Mild (1) | Total | |
# (%) | # (%) | # (%) | # (%) | # (%) | # (%) | |
71 (8.9) | 144 (18.0) | 221 (27.6) | 176 (22.0) | 188 (23.5) | 800 (100) | |
K8 Y54H | 0 | 0 | 0 | 0 | 1 (0.5) | 1 (0.1) |
K8 G62C | 0 | 3 (2.1) | 2 (0.9) | 3 (1.7) | 3 (1.6)d | 11 (1.4) |
K8 I63V | 1 (1.4) | 2 (1.4) | 2 (0.9) | 1 (0.6) | 3 (1.6) | 9 (1.1) |
IVS1+30G>A | 0 | 0 | 1 (0.5) | 0 | 0 | 1 (0.1) |
K8 A333A | 2 (2.8) | 4 (2.8) | 5 (2.3) | 1 (0.6)c | 3 (1.6) | 15 (1.9) |
K8 R341H | 5 (7.0) | 5 (3.5) | 13 (5.9)b | 7 (4.0) | 10 (5.3)d | 40 (5.0) |
K8 I346V | 0 | 1 (0.7)a | 0 | 0 | 0 | 1 (0.1) |
K8 A351V | 0 | 0 | 0 | 0 | 1 (0.5) | 1 (0.1) |
K8 A358V | 0 | 1 (0.7) | 0 | 0 | 0 | 1 (0.1) |
K8 V380I | 0 | 1 (0.7) | 0 | 1 (0.6) | 1 (0.5) | 3 (0.4) |
K8 K393R | 1 (1.4) | 0 | 0 | 0 | 0 | 1 (0.1) |
IVS6+46A>T | 0 | 3 (2.1)a | 4 (1.8) | 1 (0.6) | 2 (1.1) | 10 (1.3) |
K8 G434S | 1 (1.4) | 4 (2.8) | 2 (0.9) | 2 (1.1)c | 1 (0.5) | 10 (1.3) |
K8 V461V | 0 | 0 | 0 | 1 (0.6) | 0 | 1 (0.1) |
K8 V480I | 1 (1.4) | 3 (2.1) | 2 (0.9) | 1 (0.6) | 0 | 7 (0.9) |
IVS8+8C>T | 0 | 1 (0.7) | 0 | 0 | 0 | 1 (0.1) |
IVS8+38G>A | 0 | 0 | 1 (0.5) | 0 | 0 | 1 (0.1) |
IVS8+27del9nt | 0 | 0 | 1 (0.5) | 0 | 0 | 1 (0.1) |
K18-11C>T | 0 | 0 | 1 (0.5)b | 0 | 0 | 1 (0.1) |
K18 Δ65-72 | 0 | 0 | 0 | 0 | 1 (0.5) | 1 (0.1) |
K18 D89H | 1 (1.4) | 0 | 0 | 0 | 0 | 1 (0.1) |
# (%) patients with amino acid-altering variants | 10 (14.1) | 20 (13.9) | 21 (9.5) | 15 (8.5) | 20 (10.6) | 86 (10.8) |
# (%) patients with intronic variants | 0 | 4 (2.8) | 8 (3.6) | 1 (0.6) | 2 (1.1) | 15 (1.9) |