Skip to main content

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