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Table 4 Distribution of keratin variants among DILI patients stratified by severity

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)
  1. aOne patient carries two K8/K18 variants (K8 I346V+IVS6+46A>T); bone patient carries two K8/K18 variants (K8 R341H+K18-11C>T); cone patient carries two K8/K18 variants (K8 A333A+G434S); done patient carries two K8/K18 variants (K8 G62C+R341H); DILI, drug-induced liver injury; Mod, moderate non-hospitalized; Mod hosp, moderate hospitalized