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) |
160Â 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 | Â | Â | 15 (17.2) | 2 (8.0) | 54 (9.4) | 11 (12.5) | 4 (17.4) | 86 (10.8) |
# (%) patients with intronic variants | Â | Â | 2 (2.3) | 0 | 11 (1.9) | 1 (1.1) | 1 (4.3) | 15 (1.9) |