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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