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