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Table 2 Distribution of keratin variants in DILI patients stratified by subject race/ethnicity

From: Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury

   

Race/ethnicity

  

AA

Asian

Caucasian

Hispanic

Other

Total

  

# (%)

# (%)

# (%)

# (%)

# (%)

# (%)

Nucleotide

Variant

dbSNP ID

87 (10.9)

25 (3.1)

577 (72.1)

88 (11.0)

23 (2.9)

800 (100)

160 T>C

K8 Y54H

rs57749775

0

0

0

1 (1.1)

0

1 (0.1)

184G>T

K8 G62C

rs11554495

0

0

10 (1.7)c

0

1 (4.3)

11 (1.4)

187A>G

K8 I63V

rs59536457

0

0

8 (1.4)

0

1 (4.3)

9 (1.1)

IVS1+30G>Ae

K8 Intr

-

0

0

1 (0.2)

0

0

1 (0.1)

999C>T

K8 A333A

rs7750

13 (14.9)a

0

0

2 (2.3)

0

15 (1.9)

1022G>A

K8 R341H

rs57422427

1 (1.1)b

1 (4.0)

27 (4.7)c

9 (10.2)

2 (8.7)

40 (5.0)

1036A>Ge

K8 I346V

-

0

0

1 (0.2)d

0

0

1 (0.1)

1052C>Te

K8 A351V

-

0

0

1 (0.2)

0

0

1 (0.1)

1073C>Te

K8 A358V

-

0

0

1 (0.2)

0

0

1 (0.1)

1138G>A

K8 V380I

rs56997521

0

0

3 (0.5)

0

0

3 (0.4)

1178A>Ge

K8 K393R

-

0

0

1 (0.2)

0

0

1 (0.1)

IVS6+46A>T

K8 Intr

rs189690662

0

0

9 (1.6)d

0

1 (4.3)

10 (1.3)

1300G>A

K8 G434S

rs58573614

10 (11.5)a

0

0

0

0

10 (1.3)

1383G>Te

K8 V461V

-

0

1 (4.0)

0

0

0

1 (0.1)

1438G>A

K8 V480I

rs61730606

4 (4.6)

0

3 (0.5)

0

0

7 (0.9)

IVS8+8C>T

K8 Intr

rs201942002

0

0

0

1 (1.1)

0

1 (0.1)

IVS8+38G>A

K8 Intr

rs267607663

1 (1.1)

0

0

0

0

1 (0.1)

IVS8+27del9nte

K8 Intr

-

0

0

1 (0.2)

0

0

1 (0.1)

K18-11C>T

K18 Intr

-

1 (1.1)b

0

0

0

0

1 (0.1)

K18 Δ65-72

K18 Deletion

rs267607417

0

0

0

1 (1.1)

0

1 (0.1)

265G>Ce

K18 D89H

-

0

1 (4.0)

0

0

0

1 (0.1)

# (%) patients with amino acid-altering variants

  

15 (17.2)

2 (8.0)

54 (9.4)

11 (12.5)

4 (17.4)

86 (10.8)

# (%) patients with intronic variants

  

2 (2.3)

0

11 (1.9)

1 (1.1)

1 (4.3)

15 (1.9)

  1. The table displays the number of patients of different races/ethnicities harboring the listed keratin variants. aOne patient carries two K8/K18 variants (K8 A333A+G434S); bone patient carries two K8/K18 variants (K8 R341H+K18-11C>T); cone patient carries two K8/K18 variants (K8 G62C+R341H); done patient carries two K8/K18 variants (K8 I346V+IVS6+46A>T); enovel variants, which were not previously described (includes five amino acid-altering variants). AA, African-American; DILI, drug-induced liver injury