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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)
  1. aOne patient carries two K8/K18 variants (K8 R341H+K18-11C>T); bone patient carries two K8/K18 variants (K8 G62C+R341H); cone patient carries two K8/K18 variants (K8 I346V+IVS6+46A>T); done patient carries two K8/K18 variants (K8 A333A+G434S); ethe causality score was not known in one patient. DILI, drug-induced liver injury