From: Pharmacological counseling in hepatotoxicity induced by macitentan and selexipag: a case report
Gene | SNP | Nucleotide change | AF (%) | SNP effect | Patient genotype | Effects on metabolism/transport |
---|---|---|---|---|---|---|
CYP2C8 | rs11572103 (*2) | c.805A>T | 19 | Decreased enzyme activity | *2/*2 (T/T) | ↑↑ |
rs11572080 (*3) | c.416G>A | 12 | Decreased enzyme activity | *1/*2 (G/A) | ↑ | |
rs1058930 (*4) | c.792C>G | 7 | Decreased enzyme activity | *1/*4 (C/G) | ↑ | |
CYP2C9 | rs1799853 (*2) | c.430C>T | 10 | Decreased enzyme activity | *2/*2 (T/T) | ↑↑ |
rs1057910 (*3) | c.1075A>C | 5 | Decreased enzyme activity | *1/*3 (A/C) | ↑ | |
UGT1A9 | rs3832043 (*22) | (DT)9>10 | 40 | Increased enzyme activity | *1/*1 (DT)9/9 | = |
rs72551330 (*3) | c.98T>C | 5 | Decreased enzyme activity | *1/*1 (T/T) | = | |
SLCO1B1 | rs2306283 (*1b) | c. 492A>G | 50 | Reduced transport activity | *1/*1 (A/A) | = |
rs4149056 (*5) | 625T>C | 14 | Reduced transport activity | *1/*1 (T/T) | = |